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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 2006 Jan 11;78(3):487–497. doi: 10.1086/500307

The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event

Doron M Behar 1, Ene Metspalu 2, Toomas Kivisild 2, Alessandro Achilli 3, Yarin Hadid 1, Shay Tzur 1, Luisa Pereira 4, Antonio Amorim 4,5, Lluís Quintana-Murci 6, Kari Majamaa 7, Corinna Herrnstadt 8, Neil Howell 8, Oleg Balanovsky 2,9, Ildus Kutuev 2,10, Andrey Pshenichnov 2,9, David Gurwitz 11, Batsheva Bonne-Tamir 11, Antonio Torroni 3, Richard Villems 2, Karl Skorecki 1
PMCID: PMC1380291  PMID: 16404693

Abstract

Both the extent and location of the maternal ancestral deme from which the Ashkenazi Jewry arose remain obscure. Here, using complete sequences of the maternally inherited mitochondrial DNA (mtDNA), we show that close to one-half of Ashkenazi Jews, estimated at 8,000,000 people, can be traced back to only 4 women carrying distinct mtDNAs that are virtually absent in other populations, with the important exception of low frequencies among non-Ashkenazi Jews. We conclude that four founding mtDNAs, likely of Near Eastern ancestry, underwent major expansion(s) in Europe within the past millennium.

The founder effect was originally defined as “the establishment of a new population by a few original founders (in an extreme case, by a single fertilized female) which carry only a small fraction of the total genetic variation of the parental population” (Mayr 1963). Since then, DNA variation studies in human populations—particularly those employing the mtDNA and the male-specific portion of the Y chromosome (MSY)—have proven invaluable for generating models of the evolution of modern humans (Cavalli-Sforza and Feldman 2003). Recent progress in the analysis of complete mtDNA genomes, combined with the growing number of samples in existing databases, provides a sophisticated tool to dissect microevolutionary processes, such as founding events, in individual haplogroups (Hgs) and populations (Ingman et al. 2000; Achilli et al. 2004, 2005; Loogväli et al. 2004; Palanichamy et al. 2004; Macaulay et al. 2005; Thangaraj et al. 2005).

The term “Ashkenazi” refers to Jews of mainly central and eastern European ancestry, in contrast to those of Iberian (Sephardic), Near Eastern, or North African origin (Ostrer 2001). Most historical records indicate that the founding of the Ashkenazi Jewry took place in the Rhine Basin, followed by a dramatic expansion into eastern Europe. However, both the origin and size of the maternal ancestral deme remain obscure. Two features have made the Ashkenazi Jewish population an excellent candidate for genetic studies. First, its unique, well-documented overall demography is consistent with several founding events, repeated bottlenecks, and dramatic expansions, from an estimated number of ∼25,000 in 1300 a.d. to >8,500,000 around the turn of the 20th century (DellaPergola 2001; Ostrer 2001). Second, the unusual accumulation of >20 recessive disorders restricted to this population and the proposed possible explanations for this phenomenon have fueled a long-standing and lively debate between theories favoring heterozygote advantage and theories postulating drift of rare disease-causing alleles during the rapid population expansion that followed the founding event (Diamond 1994; Risch et al. 1995; Ostrer 2001). The published genetic data addressing the question of a founding event in the maternal history of Ashkenazi Jews (Torroni et al. 1996; Thomas et al. 2002; Behar et al. 2004) are partially discordant, with some studies detecting a strong founder event (Torroni et al. 1996; Behar et al. 2004) and others reaching the conclusion that there is little evidence for such an event (Thomas et al. 2002). In particular, our recent analysis of HVS-I sequences (Behar et al. 2004), extended herein to a larger fraction of the control-region (16024–00300) variation in Ashkenazi Jews, has yielded a broad range of Hgs well known to be prevalent and shared between Europe and the Near East and, therefore, not informative in determining the geographic origin of the population ancestral to contemporary Ashkenazi Jews (tables 1 and 2). Despite the presence of the entire range of west Eurasian Hgs in the Ashkenazi mtDNA pool, Hg frequencies clearly deviated from those reported elsewhere for west Eurasian populations. This deviation was due to a striking overrepresentation of Hgs K and N1b. However, since common Hgs cover large geographic areas and comprise numerous lineages that usually coalesced tens of thousands of years ago, monitoring their general frequencies does not effectively allow determination of the real number of ancestral maternal lineages that gave rise to the present-day diversity in a population. Therefore, although in previous studies the elevated frequencies of mtDNA Hgs K and N1b in Ashkenazi Jews suggested a maternal founding event (Torroni et al. 1996; Behar et al. 2004), the number of lineages within these Hgs, their putative origin, and their level of restriction to Ashkenazi Jews remain to be resolved. To this end, in the current study, using complete mtDNA sequence analysis, we identified the founding lineages of Ashkenazi Hgs K and N1b and contrasted their variation against a global set of mtDNAs belonging to the same Hgs. On the basis of these data, we infer the actual number, as well as the temporal and geographic origin, of these maternal founders.

Table 1.

Control-Region Sequences and Hg Affiliation of Ashkenazi mtDNAs[Note]

Serial Number Geographic Origin of Maternal Lineage HVS-I (16024-16383) Middle (16384-00056) HVS-II (00057-00300) Hg
1 France 111 223 290 299 319 362 CRS 64 73 146 153 197 235 263 A
2 Latvia 080 183C 189 356 360 CRS 183 263 H
3 Lithuania 080 183C 189 356 360 CRS 183 263 H
4 Netherlands A 080 183C 189 356 360 CRS 183 263 H
5 Poland 080 183C 189 356 360 CRS 183 263 H
6 Romania 080 183C 189 356 360 CRS 183 263 H
7 Lithuania 114 519 263 H
8 Russia 114 519 263 H
9 Poland 114 126 519 263 H
10 Austria/Hungary 114 344 519 263 H
11 Byelorussia 114 344 519 263 H
12 Poland 114 344 519 263 H
13 Poland 114 344 CRS 263 H
14 Russia 114 344 519 263 H
15 France 126 261 519 263 H
16 Ukraine 126 261 519 263 H
17 Lithuania 129 519 146 263 H
18 Poland 129 519 146 263 H
19 Poland 129 519 146 263 H
20 Romania 129 519 146 263 H
21 Romania 129 519 146 263 H
22 Russia 129 519 146 263 H
23 Ukraine 129 519 146 182 263 H
24 Ukraine 129 519 146 263 H
25 Germany 167 274 304 CRS 73 263 H
26 Russia 167 274 304 CRS 73 263 H
27 Romania 167 304 311 CRS 263 H
28 Austria/Hungary 172 192 456 519 152 204 207 263 H
29 Austria/Hungary 172 192 456 519 NA H
30 Poland 172 192 456 519 207 263 H
31 Poland 172 192 456 519 207 263 H
32 Romania 172 192 456 519 152 207 263 H
33 Romania 172 192 456 519 207 263 H
34 Russia 172 192 519 152 207 263 H
35 Russia 172 192 456 519 263 H
36 Ukraine 172 192 456 519 152 207 263 H
37 Ukraine 172 192 519 152 207 263 H
38 Germany 183C 189 519 263 H
39 Russia 184 265T 399 263 H
40 Netherlands A 188 519 146 263 H
41 Austria/Hungary 189 304 CRS 263 H
42 Poland 189 304 CRS 263 H
43 Czech Republic 189 356 519 152 263 H
44 France 189 356 519 152 263 H
45 Poland 189 356 519 152 263 H
46 Ukraine 189 356 519 152 263 H
47 Latvia 189 356 362 519 263 H
48 Romania 189 356 362 519 152 263 H
49 Romania 193 CRS 73 263 H
50 France 213 216 CRS 263 H
51 France 213 216 CRS 263 H
52 Lithuania 213 216 CRS 263 H
53 Lithuania 213 216 CRS 263 H
54 Netherlands A 222 299 519 146 263 H
55 Romania 222 299 519 146 263 H
56 Romania 222 299 519 146 263 H
57 France 248 519 263 H
58 Poland 248 519 263 H
59 Poland 248 519 263 H
60 Romania 248 519 263 H
61 Ukraine 248 519 263 H
62 Ukraine 248 519 263 H
63 Romania 299 519 150 263 H
64 Austria/Hungary 304 CRS 263 H
65 Austria/Hungary 304 CRS 263 H
66 Poland 304 CRS 263 H
67 Russia 304 CRS 263 H
68 Ukraine 304 CRS 263 H
69 Ukraine 304 CRS 263 H
70 Ukraine 304 CRS NA H
71 France 311 362 482 239 263 H
72 Poland 311 362 482 239 263 H
73 Ukraine 311 362 519 239 263 H
74 Austria/Hungary 362 482 239 263 H
75 Czech Republic 362 482 239 263 H
76 Poland 362 482 239 263 H
77 Poland 362 482 239 263 H
78 Russia 362 482 239 263 H
79 Ukraine 362 482 239 263 H
80 Ukraine 362 482 239 263 H
81 Austria/Hungary CRS 519 263 H
82 Austria/Hungary CRS 519 263 H
83 Byelorussia CRS 519 152 263 H
84 Byelorussia CRS 519 263 H
85 Czech Republic CRS 519 152 263 H
86 France CRS 519 NA H
87 Germany CRS 519 263 H
88 Germany CRS 519 NA H
89 Latvia CRS 519 263 H
90 Latvia CRS 519 263 H
91 Lithuania CRS 519 263 H
92 Lithuania CRS 519 263 H
93 Lithuania CRS 519 263 H
94 Netherlands A CRS 519 263 H
95 Netherlands A CRS 519 263 267 H
96 Poland CRS 527 55 57 263 H
97 Poland CRS 519 249 263 H
98 Poland CRS 519 263 H
99 Poland CRS 519 263 H
100 Poland CRS 519 263 H
101 Poland CRS 519 263 H
102 Romania CRS 527 55 57 263 H
103 Romania CRS 519 152 263 H
104 Romania CRS CRS 262 263 H
105 Romania CRS CRS 262 263 H
106 Romania CRS CRS 262 263 H
107 Romania CRS 519 263 H
108 Romania CRS 519 263 H
109 Romania CRS 519 263 H
110 Romania CRS 519 263 H
111 Romania CRS 519 263 H
112 Romania CRS 519 263 H
113 Romania CRS 519 263 H
114 Russia CRS 519 263 H
115 Russia CRS 519 263 H
116 Ukraine CRS CRS 195 263 H
117 Ukraine CRS 519 263 H
118 Ukraine CRS 519 263 H
119 Ukraine CRS 519 263 H
120 Ukraine CRS 519 263 H
121 Poland 184 CRS 263 HV*
122 Russia 184 355 357 CRS 200 263 HV*
123 Romania 264 CRS 146 263 HV*
124 Lithuania CRS CRS 263 HV*
125 Poland CRS CRS 263 HV*
126 Poland CRS CRS 263 HV*
127 Poland CRS CRS 263 HV*
128 Poland CRS CRS 263 HV*
129 Romania CRS CRS 263 HV*
130 Romania CRS CRS 263 HV*
131 Poland 067 182C 183C 189 519 152 263 HV1
132 Czech Republic 067 183C 189 519 152 263 HV1
133 Lithuania 067 183C 189 519 152 263 HV1
134 Lithuania 067 183C 189 519 152 263 HV1
135 Poland 067 183C 189 519 152 263 HV1
136 Poland 067 183C 189 519 152 263 HV1
137 Poland 067 183C 189 519 152 263 HV1
138 Poland 067 183C 189 519 152 263 HV1
139 Poland 067 183C 189 519 152 263 HV1
140 Poland 067 183C 189 519 152 263 HV1
141 Poland 067 183C 189 519 152 263 HV1
142 Romania 067 183C 189 519 152 263 HV1
143 Romania 067 183C 189 519 152 263 HV1
144 Romania 067 183C 189 519 152 263 HV1
145 Russia 067 183C 189 519 152 263 HV1
146 Russia 067 183C 189 519 152 263 HV1
147 Russia 067 183C 189 519 152 263 HV1
148 Russia 067 183C 189 519 152 263 HV1
149 Ukraine 067 183C 189 519 152 263 HV1
150 Ukraine 067 183C 189 519 152 263 HV1
151 Byelorussia 067 183C 189 215T 519 152 263 HV1
152 Russia 067 355 CRS 150 263 HV1
153 Russia 067 355 CRS 150 263 HV1
154 Ukraine 067 355 CRS 150 263 HV1
155 Austria/Hungary 129 223 264 270 311 319 362 391 519 73 199 204 250 263 I
156 Czech Republic 129 223 264 270 311 319 362 391 519 73 199 204 250 263 I
157 Poland 129 223 264 270 311 319 362 391 519 73 199 204 250 263 I
158 Poland 129 223 264 270 311 319 362 391 519 73 199 204 250 263 I
159 Poland 129 223 264 270 311 319 362 391 519 73 199 204 250 263 I
160 Poland 069 092 126 213 261 CRS 73 185 228 263 295 J1*
161 Germany 069 092 126 261 CRS 73 185 228 263 295 J1*
162 Germany 069 092 126 261 CRS 73 185 228 263 295 J1*
163 Poland 069 092 126 261 CRS 73 185 189 228 263 295 J1*
164 Poland 069 092 126 261 CRS 73 185 228 263 295 J1*
165 Poland 069 092 126 261 CRS 73 185 228 263 295 J1*
166 Poland 069 092 126 261 CRS 73 185 228 263 295 J1*
167 Poland 069 092 126 261 CRS 73 185 228 263 295 J1*
168 Poland 069 092 126 261 CRS 73 185 228 263 295 J1*
169 Russia 069 092 126 261 CRS 73 185 228 263 295 J1*
170 Russia 069 092 126 261 CRS 73 185 228 263 295 J1*
171 Ukraine 069 092 126 261 CRS 73 185 228 263 295 J1*
172 Poland 069 093 126 189 311 CRS 73 228 263 295 J1*
173 Romania 069 093 126 189 311 CRS 73 228 263 295 J1*
174 Romania 069 093 126 223 261 274 355 CRS 73 185 195 228 263 295 J1*
175 Poland 069 093 126 261 274 355 CRS 73 185 195 204 228 263 295 J1*
176 Poland 069 093 126 261 274 355 CRS 73 185 195 228 263 295 J1*
177 Poland 069 093 126 261 274 355 CRS 73 185 195 228 263 295 J1*
178 Poland 069 093 126 261 274 355 CRS 73 185 195 228 263 295 J1*
179 Romania 069 093 126 261 274 355 CRS 73 185 195 228 263 295 J1*
180 Romania 069 093 126 261 274 355 CRS 73 185 195 228 263 295 J1*
181 France 069 126 CRS 64 73 152 185 188 228 263 295 J1*
182 Poland 069 126 145 172 261 CRS 73 242 263 295 J1*
183 Poland 069 126 145 172 261 CRS 73 242 263 295 J1*
184 Poland 069 126 145 172 261 CRS NA J1*
185 Romania 069 126 145 172 261 CRS 73 242 263 295 J1*
186 Romania 069 126 145 172 261 CRS 73 242 263 295 J1*
187 Romania 069 126 145 172 261 CRS 73 242 263 295 J1*
188 Romania 069 126 145 172 261 CRS 73 242 263 295 J1*
189 Russia 069 126 145 172 261 CRS 73 242 263 295 J1*
190 Russia 069 126 145 172 261 CRS 73 242 263 295 J1*
191 Ukraine 069 126 145 172 261 CRS 73 242 263 295 J1*
192 Romania 069 126 145 184 222 224 261 274 CRS 73 263 295 J1*
193 Germany 069 126 235 311 390 73 185 228 263 295 J1*
194 Russia 069 126 235 311 390 73 185 228 263 295 J1*
195 France 069 126 256 263 CRS 73 185 228 263 295 J1*
196 Byelorussia 069 126 261 CRS 73 185 228 263 295 J1*
197 Romania 069 126 261 CRS 73 185 189 204 228 263 295 J1*
198 Russia 069 126 261 CRS 73 185 204 228 263 295 J1*
199 Poland 069 126 261 274 355 CRS 73 185 195 228 263 295 J1*
200 Russia 069 126 261 274 355 CRS 73 185 195 228 263 295 J1*
201 Russia 069 126 261 274 355 CRS 73 185 195 228 263 295 J1*
202 Russia 069 126 261 274 355 CRS NA J1*
203 Poland 069 126 145 222 261 CRS 73 152 263 295 J1a
204 Poland 069 126 193 265T CRS 73 150 152 263 295 J2b
205 Russia 069 126 193 278 519 73 150 152 263 295 J2b
206 Russia 069 126 193 362 CRS 73 150 152 263 295 J2b
207 Lithuania 093 223 224 234 311 519 73 114 263 K1
208 Poland 093 223 224 234 311 519 73 114 263 K1
209 Poland 093 223 224 234 311 519 73 114 263 K1
210 Poland 093 223 224 234 311 355 519 73 114 263 K1
211 Austria/Hungary 093 224 311 519 524 73 152 195 263 K1
212 Austria/Hungary 093 224 311 519 524 73 195 263 K1
213 Austria/Hungary 093 224 311 519 524 73 195 263 K1
214 Byelorussia 093 224 311 519 524 73 195 263 K1
215 Czech Republic 093 224 311 519 524 73 195 263 K1
216 France 093 224 311 519 524 73 195 263 K1
217 France 093 224 311 519 524 73 195 263 K1
218 France 093 224 311 519 524 73 195 263 K1
219 Germany 093 224 311 519 524 73 195 263 K1
220 Germany 093 224 311 519 524 73 195 263 K1
221 Lithuania 093 224 311 519 524 73 195 263 K1
222 Netherlands A 093 224 311 519 524 73 152 195 263 K1
223 Netherlands A 093 224 311 519 524 73 195 263 K1
224 Netherlands A 093 224 311 519 524 73 195 263 K1
225 Poland 093 224 311 519 524 73 152 195 263 K1
226 Poland 093 224 311 519 524 73 152 195 263 K1
227 Poland 093 224 311 519 524 73 195 215 263 K1
228 Poland 093 224 311 519 524 73 195 263 K1
229 Poland 093 224 311 519 524 73 195 263 K1
230 Poland 093 224 311 519 524 73 195 263 K1
231 Poland 093 224 311 519 524 73 195 263 K1
232 Romania 093 224 311 519 524 73 152 195 263 K1
233 Romania 093 224 311 519 524 73 152 195 263 K1
234 Romania 093 224 311 519 524 73 152 195 263 K1
235 Romania 093 224 311 519 524 73 195 263 K1
236 Romania 093 224 311 519 524 73 195 263 K1
237 Romania 093 224 311 519 524 73 195 263 K1
238 Romania 093 224 311 519 524 73 195 263 K1
239 Romania 093 224 311 519 524 73 195 263 K1
240 Romania 093 224 311 519 524 73 195 263 K1
241 Russia 093 224 311 519 524 73 195 263 K1
242 Russia 093 224 311 519 524 73 195 263 K1
243 Switzerland 093 224 311 519 524 73 195 263 K1
244 Ukraine 093 224 311 519 524 73 195 263 K1
245 Ukraine 093 224 311 519 524 73 195 263 K1
246 Ukraine 093 224 311 519 524 73 195 263 K1
247 Netherlands A 147 224 234 311 519 73 114 263 K1
248 Romania 168 224 311 519 73 150 263 K1
249 Netherlands A 183C 189 223 224 234 311 519 73 114 263 K1
250 Poland 189 223 224 234 311 519 73 114 263 K1
251 Lithuania 214 223 224 234 311 519 73 114 263 K1
252 Germany 216 223 224 234 311 519 73 114 263 K1
253 Romania 223 224 234 263 311 519 73 263 K1
254 Austria/Hungary 223 224 234 311 519 73 114 263 K1
255 Austria/Hungary 223 224 234 311 519 NA K1
256 Czech Republic 223 224 234 311 519 73 114 263 K1
257 Czech Republic 223 224 234 311 519 73 114 263 K1
258 France 223 224 234 311 519 73 114 150 263 K1
259 France 223 224 234 311 519 73 114 263 K1
260 France 223 224 234 311 519 73 114 263 K1
261 France 223 224 234 311 519 73 114 263 K1
262 France 223 224 234 311 519 73 263 K1
263 France 223 224 234 311 519 73 263 K1
264 Germany 223 224 234 311 519 73 114 263 K1
265 Germany 223 224 234 311 519 73 114 263 K1
266 Germany 223 224 234 311 519 73 263 K1
267 Germany 223 224 234 311 519 73 263 K1
268 Germany 223 224 234 311 519 73 263 K1
269 Germany 223 224 234 311 519 NA K1
270 Latvia 223 224 234 311 519 73 114 263 K1
271 Latvia 223 224 234 311 519 73 263 K1
272 Moldavia 223 224 234 311 519 73 114 263 K1
273 Netherlands A 223 224 234 311 519 73 263 K1
274 Netherlands A 223 224 234 311 519 73 263 K1
275 Poland 223 224 234 311 519 64 73 114 263 K1
276 Poland 223 224 234 311 519 73 114 263 K1
277 Poland 223 224 234 311 519 73 114 263 K1
278 Poland 223 224 234 311 519 73 114 263 K1
279 Poland 223 224 234 311 519 73 114 263 K1
280 Poland 223 224 234 311 519 73 114 263 K1
281 Poland 223 224 234 311 519 73 114 263 K1
282 Poland 223 224 234 311 519 73 114 263 K1
283 Poland 223 224 234 311 519 73 114 263 K1
284 Poland 223 224 234 311 519 73 114 263 K1
285 Poland 223 224 234 311 519 73 114 263 K1
286 Poland 223 224 234 311 519 73 114 263 K1
287 Poland 223 224 234 311 519 73 114 263 K1
288 Poland 223 224 234 311 519 73 114 263 K1
289 Poland 223 224 234 311 519 73 114 263 K1
290 Poland 223 224 234 311 519 73 114 263 K1
291 Poland 223 224 234 311 519 73 114 263 K1
292 Poland 223 224 234 311 519 73 114 263 K1
293 Poland 223 224 234 311 519 73 114 263 K1
294 Poland 223 224 234 311 519 73 114 263 K1
295 Poland 223 224 234 311 519 73 114 263 K1
296 Poland 223 224 234 311 519 73 114 263 K1
297 Poland 223 224 234 311 519 73 114 263 K1
298 Poland 223 224 234 311 519 73 114 263 K1
299 Poland 223 224 234 311 519 73 114 263 K1
300 Poland 223 224 234 311 519 73 263 K1
301 Poland 223 224 234 311 519 NA K1
302 Poland 223 224 234 311 519 NA K1
303 Romania 223 224 234 311 519 73 114 263 K1
304 Romania 223 224 234 311 519 73 114 263 K1
305 Romania 223 224 234 311 519 73 114 263 K1
306 Romania 223 224 234 311 519 73 114 263 K1
307 Romania 223 224 234 311 519 73 114 263 K1
308 Romania 223 224 234 311 519 73 114 263 K1
309 Romania 223 224 234 311 519 73 114 263 K1
310 Romania 223 224 234 311 519 73 114 263 K1
311 Romania 223 224 234 311 519 73 114 263 K1
312 Romania 223 224 234 311 519 73 195 263 K1
313 Russia 223 224 234 311 519 73 114 263 K1
314 Ukraine 223 224 234 311 519 73 114 263 K1
315 Ukraine 223 224 234 311 519 73 114 263 K1
316 France 224 234 283T 300 311 519 73 114 195 263 K1
317 Russia 224 234 293 311 519 73 114 263 K1
318 Austria/Hungary 224 234 311 519 73 114 263 K1
319 Austria/Hungary 224 234 311 519 73 114 263 K1
320 France 224 234 311 519 73 114 263 K1
321 France 224 234 311 519 73 114 263 K1
322 France 224 234 311 519 73 114 263 K1
323 France 224 234 311 519 73 114 263 K1
324 France 224 234 311 519 73 114 263 K1
325 France 224 234 311 519 73 114 263 K1
326 France 224 234 311 519 73 114 263 K1
327 France 224 234 311 519 73 114 263 K1
328 Germany 224 234 311 519 73 114 195 263 K1
329 Germany 224 234 311 519 73 114 263 K1
330 Germany 224 234 311 519 73 114 263 K1
331 Germany 224 234 311 519 73 114 263 K1
332 Germany 224 234 311 519 73 114 263 K1
333 Germany 224 234 311 519 73 195 263 K1
334 Lithuania 224 234 311 519 73 114 263 K1
335 Lithuania 224 234 311 519 73 114 263 K1
336 Netherlands A 224 234 311 519 73 114 195 263 K1
337 Netherlands A 224 234 311 519 73 114 263 K1
338 Netherlands A 224 234 311 519 73 114 263 K1
339 Poland 224 234 311 519 73 114 263 K1
340 Poland 224 234 311 519 73 114 263 K1
341 Poland 224 234 311 519 73 114 263 K1
342 Poland 224 234 311 519 73 114 263 K1
343 Poland 224 234 311 519 73 114 263 K1
344 Poland 224 234 311 519 73 114 263 K1
345 Poland 224 234 311 519 73 114 263 K1
346 Poland 224 234 311 519 73 114 263 K1
347 Poland 224 234 311 519 73 114 263 K1
348 Poland 224 234 311 519 73 114 263 K1
349 Poland 224 234 311 519 73 263 K1
350 Poland 224 234 311 519 73 263 K1
351 Romania 224 234 311 519 73 114 263 K1
352 Romania 224 234 311 519 73 114 263 K1
353 Romania 224 234 311 519 73 114 263 K1
354 Romania 224 234 311 519 73 263 K1
355 Russia 224 234 311 519 73 114 263 K1
356 Russia 224 234 311 519 73 114 263 K1
357 Switzerland 224 234 311 519 73 114 263 K1
358 Ukraine 224 234 311 519 73 114 263 K1
359 Ukraine 224 234 311 519 73 114 263 K1
360 Ukraine 224 234 311 519 73 114 263 K1
361 Poland 224 256 311 519 73 150 263 K1
362 Lithuania 224 311 519 524 73 195 263 K1
363 Lithuania 224 311 519 524 73 195 263 K1
364 Poland 224 311 519 524 73 195 263 K1
365 Ukraine 224 311 519 524 73 195 263 K1
366 Ukraine 224 311 519 524 73 195 263 K1
367 Poland 224 260 311 519 73 146 152 263 K2
368 Poland 224 261 311 519 73 146 152 263 K2
369 Austria/Hungary 224 311 519 73 146 152 263 K2
370 Byelorussia 224 311 519 73 150 152 194 263 K2
371 Czech Republic 224 311 519 73 146 152 263 K2
372 France 224 311 519 73 146 152 263 K2
373 France 224 311 519 73 146 152 263 K2
374 Latvia 224 311 519 73 146 152 263 K2
375 Lithuania 224 311 519 73 146 152 263 K2
376 Poland 224 311 519 73 146 152 263 K2
377 Poland 224 311 519 73 146 152 263 K2
378 Poland 224 311 519 73 146 152 263 K2
379 Poland 224 311 519 73 146 152 263 K2
380 Poland 224 311 519 73 146 152 263 K2
381 Poland 224 311 519 73 146 152 263 K2
382 Poland 224 311 519 73 146 152 263 K2
383 Poland 224 311 519 73 146 152 263 K2
384 Poland 224 311 519 73 146 152 263 K2
385 Poland 224 311 519 73 146 152 263 292 K2
386 Romania 224 311 519 73 146 152 263 K2
387 Romania 224 311 519 73 146 152 263 K2
388 Romania 224 311 519 73 146 152 263 K2
389 Romania 224 311 519 73 146 152 263 K2
390 Russia 224 311 519 73 146 152 263 K2
391 Russia 224 311 519 73 146 152 263 K2
392 Russia 224 311 519 73 146 152 263 K2
393 France 189 192 223 278 294 309 390 73 146 152 195 263 L2a1
394 Germany 189 192 223 278 294 309 390 73 146 152 195 263 L2a1
395 Poland 189 192 223 278 294 309 390 73 146 152 195 263 L2a1
396 Poland 189 192 223 278 294 309 390 73 146 152 195 263 L2a1
397 Poland 189 192 223 278 294 309 390 73 146 152 195 263 L2a1
398 Poland 189 192 223 278 294 309 390 73 146 152 195 263 L2a1
399 Poland 189 192 223 278 294 309 390 73 146 152 195 263 L2a1
400 Romania 189 192 223 278 294 309 390 73 146 152 195 263 L2a1
401 Romania 189 192 223 278 294 309 390 73 146 152 195 263 L2a1
402 Russia 189 192 223 278 294 309 390 73 146 152 195 263 L2a1
403 Byelorussia 111 223 235 362 519 73 263 M*
404 Poland 111 223 235 362 519 73 263 M*
405 Poland 111 223 235 362 519 73 263 M*
406 Romania 111 223 235 362 519 73 263 M*
407 Romania 129 223 230 233 304 344 519 73 199 263 M*
408 France 051A/G 129 183C 189 223 249 289 311 359 519 73 195 263 M1
409 France 129 183C 189 223 249 289 311 359 519 73 195 263 M1
410 France 129 183C 189 223 249 289 311 359 519 73 195 263 M1
411 Lithuania 129 183C 189 223 249 289 311 359 519 73 195 263 M1
412 Netherlands A 129 183C 189 223 249 289 311 359 519 73 195 263 M1
413 Poland 129 183C 189 223 249 289 311 359 456 519 73 195 263 M1
414 Romania 145 176A 188A 223 390 519 73 152 263 N1b
415 Austria/Hungary 145 176A 223 390 519 73 152 263 N1b
416 Austria/Hungary 145 176A 223 390 519 73 152 263 N1b
417 Austria/Hungary 145 176A 223 390 519 73 152 263 N1b
418 Austria/Hungary 145 176A 223 390 519 73 152 263 N1b
419 Byelorussia 145 176A 223 390 519 73 152 263 N1b
420 Czech Republic 145 176A 223 390 519 73 152 263 N1b
421 Czech Republic 145 176A 223 390 519 73 152 263 N1b
422 Estonia 145 176A 223 390 519 73 152 263 N1b
423 France 145 176A 223 390 519 73 152 263 N1b
424 France 145 176A 223 390 519 73 152 263 N1b
425 France 145 176A 223 390 519 73 152 263 N1b
426 France 145 176A 223 390 519 73 152 263 N1b
427 France 145 176A 223 390 519 73 152 263 N1b
428 France 145 176A 223 390 519 73 152 263 N1b
429 France 145 176A 223 390 519 73 152 263 N1b
430 France 145 176A 223 390 519 73 152 263 N1b
431 Germany 145 176A 223 390 519 73 152 263 N1b
432 Germany 145 176A 223 390 519 73 152 263 N1b
433 Germany 145 176A 223 390 519 NA N1b
434 Lithuania 145 176A 223 390 519 73 102 152 263 N1b
435 Lithuania 145 176A 223 390 519 73 152 263 N1b
436 Lithuania 145 176A 223 390 519 73 152 263 N1b
437 Lithuania 145 176A 223 390 519 73 152 263 N1b
438 Lithuania 145 176A 223 390 519 73 152 263 N1b
439 Netherlands A 145 176A 223 390 519 73 152 263 N1b
440 Netherlands A 145 176A 223 390 519 73 152 263 N1b
441 Poland 145 176A 223 390 519 73 152 214 263 N1b
442 Poland 145 176A 223 390 519 73 152 263 N1b
443 Poland 145 176A 223 390 519 73 152 263 N1b
444 Poland 145 176A 223 390 519 73 152 263 N1b
445 Poland 145 176A 223 390 519 73 152 263 N1b
446 Poland 145 176A 223 390 519 73 152 263 N1b
447 Poland 145 176A 223 390 519 73 152 263 N1b
448 Poland 145 176A 223 390 519 73 152 263 N1b
449 Poland 145 176A 223 390 519 73 152 263 N1b
450 Poland 145 176A 223 390 519 73 152 263 N1b
451 Romania 145 176A 223 390 519 73 152 263 N1b
452 Romania 145 176A 223 390 519 73 152 263 N1b
453 Romania 145 176A 223 390 519 73 152 263 N1b
454 Romania 145 176A 223 390 519 73 152 263 N1b
455 Romania 145 176A 223 390 519 73 152 263 N1b
456 Romania 145 176A 223 390 519 73 152 263 N1b
457 Romania 145 176A 223 390 519 73 152 263 N1b
458 Romania 145 176A 223 390 519 73 152 263 N1b
459 Romania 145 176A 223 390 519 73 152 263 N1b
460 Russia 145 176A 223 390 519 73 152 263 N1b
461 Russia 145 176A 223 390 519 73 152 263 N1b
462 Russia 145 176A 223 390 519 73 152 263 N1b
463 Russia 145 176A 223 390 519 73 152 263 N1b
464 Russia 145 176A 223 390 519 73 152 263 N1b
465 Ukraine 145 176A 223 390 519 73 152 263 N1b
466 Ukraine 145 176A 223 390 519 73 152 263 N1b
467 Ukraine 145 176A 223 390 519 73 152 263 N1b
468 Ukraine 145 176A 223 390 519 73 152 263 N1b
469 Switzerland 145 176A 223 368 390 519 152 263 N1b
470 Germany 145 176G 223 519 NA N1b
471 Romania 145 223 265 519 73 189 195 204 207 263 N1c
472 Russia 129 223 257A 261 CRS 73 146 150 263 N9a
473 Lithuania 126 179A 362 CRS 57.1C 64 150 263 (pre-HV)1
474 Russia 126 179A 362 CRS NA (pre-HV)1
475 Romania 126 288 362 519 57.1C 64 263 (pre-HV)1
476 Ukraine 126 304 362 CRS 56.1T 56.2C 64 152 263 (pre-HV)1
477 France 126 362 CRS 57.1C 64 150 263 (pre-HV)1
478 Germany 126 362 CRS 57.1C 64 150 263 (pre-HV)1
479 Germany 126 362 519 57.1C 64 263 (pre-HV)1
480 Lithuania 126 362 CRS 57.1C 64 150 263 (pre-HV)1
481 Lithuania 126 362 CRS 57.1C 64 150 263 (pre-HV)1
482 Poland 126 362 CRS 57.1C 64 150 186 263 (pre-HV)1
483 Poland 126 362 519 64 263 (pre-HV)1
484 Russia 126 362 CRS 57.1C 64 150 263 (pre-HV)1
485 Russia 126 362 519 57.1C 64 263 (pre-HV)1
486 Russia 126 362 519 57.1C 64 263 (pre-HV)1
487 Ukraine 126 362 519 57.1C 64 263 (pre-HV)1
488 Russia 217 234 336 456 65 72 73 152 195 200 263 (pre-HV)2
489 Poland 298 CRS 72 195 263 pre-V*
490 Ukraine 298 CRS 72 195 263 pre-V*
491 Czech Republic 126 163 186 189 294 519 73 146 152 195 263 T1
492 France 126 163 186 189 294 519 73 263 T1
493 France 126 163 186 189 294 519 73 263 T1
494 Poland 126 163 186 189 294 519 73 152 195 263 T1
495 Ukraine 126 163 186 189 294 519 73 152 195 263 T1
496 Poland 126 163 189 194C 195 243 294 320 519 73 263 T1
497 Russia 126 163 294 519 73 263 T1
498 Russia 093 126 294 296 304 519 41 73 114 263 T2
499 Netherlands A 093 126 294 296 324 519 73 263 T2
500 Romania 093 126 294 296 324 519 73 263 T2
501 Romania 093 126 294 296 324 519 73 263 T2
502 Russia 093 126 294 296 324 519 73 263 T2
503 France 126 129 294 296 304 519 NA T2
504 Poland 126 129 294 296 304 519 73 263 T2
505 Russia 126 129 294 296 304 519 73 263 T2
506 Poland 126 153 294 519 41 73 150 263 T2
507 Poland 126 153 294 519 41 73 150 263 T2
508 Ukraine 126 153 294 519 73 150 263 T2
509 Romania 126 189 294 296 519 73 263 T2
510 Austria/Hungary 126 192 294 296 519 73 216 263 T2
511 Russia 126 241 294 304 519 73 263 T2
512 Russia 126 292 294 296 519 73 152 263 T2
513 Czech Republic 126 294 295 519 73 195 198 263 T2
514 Austria/Hungary 126 294 296 519 73 195 263 T2
515 Germany 126 294 296 304 519 NA T2
516 Poland 126 294 296 304 519 73 152 263 T2
517 Ukraine 126 294 296 304 519 73 207 263 264 T2
518 Czech Republic 126 294 296 324 519 73 146 263 T2
519 Poland 104 111 249 327 519 73 146 263 285 U1b
520 Poland 104 111 249 327 519 73 146 263 285 U1b
521 Ukraine 104 111 249 327 519 73 146 263 285 U1b
522 Ukraine 104 111 249 327 519 73 146 263 285 U1b
523 Poland 051 129C 183C 189 362 519 73 152 217 263 U2e
524 Poland 051 129C 183C 189 362 519 73 152 217 263 U2e
525 Poland 343 390 519 73 150 263 U3a
526 Romania 343 390 519 73 150 257 263 U3a
527 Latvia 265 356 362 519 73 195 247 263 U4
528 Poland 356 519 73 195 263 U4
529 Romania 168 192 256 270 CRS 73 263 U5a1
530 Ukraine 168 192 256 270 526 73 263 U5a1
531 Poland 192 256 265C 270 526 73 263 U5a1
532 Romania 192 256 265C 270 526 73 263 290.1A U5a1
533 Poland 189 192 256 270 304 399 73 263 U5a1a
534 Austria/Hungary 256 270 291 399 73 263 U5a1a
535 Austria/Hungary 093 183C 189 270 CRS 73 150 263 271.1T U5b
536 Romania 093 183C 189 270 CRS 73 150 263 271.1T U5b
537 Russia 093 183C 189 270 CRS 73 150 263 271.1T U5b
538 Russia 093 183C 189 270 CRS 73 150 263 271.1T U5b
539 Ukraine 093 183C 189 270 CRS 73 150 263 271.1T U5b
540 Russia 183C 189 270 304 465 73 150 152 263 U5b
541 Byelorussia 189 270 CRS 73 150 152 194 263 U5b
542 Poland 172 219 278 CRS 73 150 152 263 U6a
543 Russia 051 172 183C 189 219 278 311 360 CRS 73 263 U6a1
544 France 291 304 318T 519 73 151 152 263 U7
545 Germany 291 304 318T 519 73 151 152 263 U7
546 Poland 291 304 318T 519 73 151 152 263 U7
547 Poland 291 304 318T 519 73 151 152 263 U7
548 Poland 291 304 318T 519 73 151 152 263 U7
549 Romania 291 304 318T 519 73 151 152 263 U7
550 Ukraine 291 304 318T 519 64 73 151 152 263 U7
551 Ukraine 291 304 318T 519 73 151 152 263 U7
552 France 182C 183C 189 234 284 304 311 324 519 73 195 263 U8b
553 Poland 114 173 CRS 72 93 263 V
554 Austria/Hungary 153 298 CRS 72 89 93 195 263 V
555 Czech Republic 153 298 CRS 72 89 93 195 263 V
556 Lithuania 153 298 CRS 72 89 93 195 263 V
557 Poland 153 298 CRS 72 89 93 195 263 V
558 Poland 153 298 CRS 72 89 93 195 263 V
559 Poland 153 298 CRS 72 93 263 V
560 Ukraine 153 298 CRS 72 89 93 195 263 V
561 Ukraine 153 298 CRS 72 89 93 195 263 V
562 Ukraine 153 298 CRS 72 89 93 195 263 V
563 Lithuania 153 298 325 CRS 72 89 93 195 263 V
564 Germany 173 CRS 72 93 263 V
565 Romania 218 239 298 CRS 72 194 263 V
566 Austria/Hungary 298 CRS 72 263 V
567 Netherlands A 298 CRS 72 263 V
568 Poland 298 519 72 263 V
569 Ukraine 298 CRS 72 263 V
570 Poland 223 291 292 519 73 189 195 204 207 263 W
571 Romania 223 291 292 519 73 189 195 204 207 263 W
572 Russia 223 291 292 519 73 189 195 204 207 263 W
573 Poland 223 292 519 73 194 195 199 204 207 263 W
574 Poland 223 292 519 73 194 195 199 204 207 263 W
575 Poland 223 292 519 73 194 195 199 204 207 263 W
576 Russia 223 292 519 73 194 195 199 204 207 263 W
577 Russia 223 292 519 73 194 195 199 204 207 263 W
578 Austria/Hungary 183C 185 189 223 266 274 278 390 73 146 152 195 263 X1
579 Poland 183C 189 223 278 357 519 73 153 195 203 225 263 X2
580 Netherlands A 108 189 223 278 519 73 153 195 225 226 263 X2b
581 France 182C 183C 189 223 278 519 73 146 153 195 198 225 226 263 X2b
582 Romania 183C 189 223 278 519 73 146 153 195 198 225 226 263 X2b
583 Romania 183C 189 223 278 519 73 146 153 195 198 225 226 263 X2b
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Note.— NA = not available. Nucleotide positions are noted only for transversions.

Table 2.

Control-Region Haplotypes of Ashkenazi Hg K mtDNAs[Note]

Haplotypes
HVS-I (16024–16569)a HVS-II ( 0–00300)a AuJ BrJ CzJ FrJ GeJ LaJ LiJ MoJ NeJ PoJ RoJ RuJ SwJ UkJ Total Final Hg Designationb
16093 16223 16224 16234 163111 16519 73 114 263 1 2 3 K1a1b1a
16093 16223 16224 16234 16311 16355 16519 73 114 263 1 1 K1a1b1a
16147 16224 16234 16311 16519 73 114 263 1 1 K1a1b1a
16183C 16189 16223 16224 16234 16311 16519 73 114 263 1 1 K1a1b1a
16189 16223 16224 16234 16311 16519 73 114 263 1 1 K1a1b1a
16214 16223 16224 16234 16311 16519 73 114 263 1 1 K1a1b1a
16216 16223 16224 16234 16311 16519 73 114 263 1 1 K1a1b1a
16223 16224 16234 16263 16311 16519 73 263 1 1 K1a1b1a
16223 16224 16234 16311 16519 64 73 114 263 1 1 K1a1b1a
16223 16224 16234 16311 16519 73 114 150 263 1 1 K1a1b1a
16223 16224 16234 16311 16519 73 114 263 1 2 3 2 1 1 24 9 1 2 46 K1a1b1a
16223 16224 16234 16311 16519 73 195 263 1 1 K1a1b1a
16223 16224 16234 16311 16519 73 263 2 3 1 2 1 9 K1a1b1a
16224 16234 16283T 16300 16311 16519 114 195 263 1 1 K1a1b1a
16224 16234 16293 16311 16519 73 114 263 1 1 K1a1b1a
16224 16234 16311 16519 73 114 195 263 1 1 2 K1a1b1a
16224 16234 16311 16519 73 114 263 2 8 4 2 2 10 3 2 1 3 37 K1a1b1a
16224 16234 16311 16519 73 195 263 1 1 K1a1b1a
16224 16234 16311 16519 73 263 2 1 3 K1a1b1a
16093 16224 16311 16519 73 152 195 263 1 1 3 3 8 K1a9
16224 16234 16311 16519 73 195 263 2 1 1 3 2 1 2 4 6 2 1 3 28 K1a9
16224 16311 16519 73 195 263 2 1 2 5 K1a9
16224 16260 16311 16519 73 146 152 263 1 1 K2a2a
16224 16261 16311 16519 73 146 152 263 1 1 K2a2a
16224 16311 16519 73 146 152 263 1 1 2 1 1 9 4 3 22 K2a2a
16224 16311 16519 73 146 152 263 292 1 1 K2a2a
16168 16224 16311 16519 73 150 263 1 1 K1a4
16224 16256 16311 16519 73 150 263 1 1 K1a4
16224 16311 16519 73 150 152 194 263 1 1 K2a
Total 7 2 4 20 14 3 8 1 10 63 29 9 2 10 182
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Note.— Population sample labels: Austria/Hungary (AuJ); Byelorussia (BrJ); Czech Republic (CzJ); France (FrJ); Germany (GeJ); Latvia (LaJ); Lithuania (LiJ); Moldavia (MoJ); Netherlands (NeJ); Poland (PoJ); Romania (RoJ); Russia (RuJ); Switzerland (SwJ); Ukraine (UkJ).

a

Control regions HVS-I and HVS-II were extended to simplify the table.

b

See table 7.

We initially generated a maximum parsimony tree of 121 complete mtDNA sequences belonging to Hg K. The tree encompassed 28 novel and 93 previously reported mtDNAs (fig. 1 and table 3). The sequencing procedure and phylogeny construction were performed as described in appendix A. Of the 28 novel samples, 13 were from Ashkenazi Jews, and 15 were selected from non-Ashkenazi Jews and non-Jewish Near Eastern populations. Samples for complete mtDNA sequencing were chosen to include the widest possible range of Hg K internal variation, on the basis of sequence analysis of the mtDNA control region. Figure 1 shows that Hg K splits at its root into two primary branches, K1 and K2. All 789 Hg K mtDNAs reported herein (table 4) were designated as either “K1” or “K2” (89% and 11%, respectively), revealing no additional branching at the root of K. Subhaplogroup (subHg) K2 is subdivided into two subsequent major branches labeled “K2a” and “K2b,” whereas K1 splits into three branches—K1a, K1b, and K1c—that are defined by positions 497, 5913, and 498del, respectively. All but one of the K1 mtDNAs reported in this study belong to one of these three branches. SubHg K1a encompassed most subbranches and is also the dominant branch in our sample set, encompassing 80% of all Hg K mtDNAs. The 13 Ashkenazi complete mtDNAs clustered into three distinct branches in the phylogeny: K1a1b1a, K1a9, and K2a2a (fig. 1).

Figure 1.

Figure 1

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Most parsimonious tree of complete Hg K mtDNA sequences. The tree is rooted in Hg U* and includes 121 mtDNAs, of which 28 are novel and 93 were reported elsewhere (12 sequences from Finnila et al. [2001], 1 from Maca-Meyer et al. [2001], 47 from Herrnstadt et al. [2002] [including the control-region information that was not reported], 1 from Mishmar et al. [2003], 28 from Coble et al. [2004], 2 from Palanichamy et al. [2004], and 2 from Achilli et al. [2005]). The genotyping information from Finnila et al. (2001) included herein corrects several inaccuracies that were reported elsewhere for the control-region phylogeny. Mutations are shown on the branches and are transitions unless the base change is explicitly indicated. Deletions are indicated by a “D” following the deleted nucleotide position. Insertions are indicated by a dot followed by the number and type of inserted nucleotide(s). Underlined nucleotide positions occur at least twice in the tree. An asterisk (*) at the end of a nucleotide position denotes a reversion. The information of the reported samples is presented in table 3. Samples in blue are from Ashkenazi Jews. Nucleotide positions in red were assayed in the entire set of 789 mtDNAs belonging to K. To resolve three possible reticulations, reversions at nucleotide 7082 in sample A01 and nucleotides 10398 and 11485 in sample H510 and a homoplasy at nucleotide 7927 for subHg K1a1a and K1a8 were assumed. The tree was drawn by hand from networks constructed using program Network 4.1.0.0. We applied the reduced-median algorithm (ρ=2) followed by the median-joining algorithm (ε=2), as described at the Fluxus Engineering Web site. The control-region positions were twofold down-weighted, with respect to coding-region positions. The hypervariable nucleotides 16182 and 16183 in HVS-I and the indels at nucleotides 309, 315, and 524 in HVS-II were excluded. Coding-region mutations at nucleotides 750, 1438, 1811, 2706, 4769, 7028, 8860, 11467, 11719, and 12308 are not shown unless reverted. Ethnic designation of the sequences was available for the sequences reported by Finnila et al. (2001), Maca-Meyer et al. (2001), Palanichamy et al. (2004), and Achilli et al. (2005), and for the novel samples reported herein (table 3).

Table 3.

Source and Ethnic Origin of the 121 Complete mtDNA Sequences

Samplea Source Population
D5939 Present article Algerian Jew
D1123 Present article Ashkenazi Jew
D1139 Present article Ashkenazi Jew
D1282 Present article Ashkenazi Jew
D1369 Present article Ashkenazi Jew
D1606 Present article Ashkenazi Jew
D1829 Present article Ashkenazi Jew
D4207 Present article Ashkenazi Jew
D4232 Present article Ashkenazi Jew
D4262 Present article Ashkenazi Jew
D4481 Present article Ashkenazi Jew
D4777 Present article Ashkenazi Jew
D5551 Present article Ashkenazi Jew
D5677 Present article Ashkenazi Jew
D5077 Present article Cherkes
D1311 Present article Druze
D1320 Present article Druze
D1626 Present article Druze
D1701 Present article Druze
D1520 Present article Moroccan Jew
D5908 Present article Moroccan Jew
D5257 Present article Palestinian
D1435 Present article Yemenite Jew
D1656 Present article Yemenite Jew
D4757 Present article Yemenite Jew
E1089 Present article Lebanese
E1221 Present article Saudi
E1365 Present article Syrian
A Achilli et al. 2005 Italian
H Herrnstadt et al. 2002 Unknown
F Finnila et al. 2001 Finnish
K Coble et al. 2004 Unknown
Ma Maca-Meyer et al. 2001 Iberian
Mi Mishmar et al. 2003 Unknown
P Palanichamy et al. 2004 Indian
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a

Serial numbers of mtDNAs from the literature were not changed.

Table 4.

Hg K Database[Note]

Serial Number Laboratory Religiona Country/Ethnic Groupb HVS-I (16024–16383) Middle (16384–00056) HVS-II (00057–00310) Hg
1 Haifa Jewish Algeria 16224 16311 16320 16519 73 146 152 263 K1c
2 Haifa Jewish Morocco 16224 16301C/T 16311 16320 16519 73 146 152 263 K1c
3 Haifa Jewish Morocco 16224 16311 16320 16519 73 146 152 183 263 K1c
4 Haifa Jewish Morocco 16224 16311 16320 16519 73 146 263 K1c
5 Haifa Jewish Morocco 16224 16294 16311 16320 16519 73 146 152 263 K1c
6 Haifa Jewish Morocco 16224 16311 16320 16519 73 146 152 263 K1c
7 Haifa Jewish Morocco 16111 16224 16311 16320 16519 73 146 152 263 K1c
8 Haifa NJ Palestinians 16224 16266 16311 16519 73 94 263 K1b
9 Haifa NJ Palestinians 16224 16266 16311 16519 73 94 263 K1b
10 Haifa Jewish Yemen 16093 16224 16311 16399 16519 73 263 K1b
11 Haifa NJ Bedouins 16224 16311 16519 73 247 263 K1a*
12 Haifa NJ Druze 16224 16311 16519 16527 73 263 K1a*
13 Haifa NJ Druze 16224 16311 16519 16527 73 263 K1a*
14 Haifa NJ Druze 16224 16311 16519 16527 73 263 K1a*
15 Haifa NJ Druze 16224 16311 16519 16527 73 263 K1a*
16 Haifa NJ Druze 16224 16311 16519 16527 73 263 K1a*
17 Haifa NJ Druze 16224 16311 16519 16527 73 263 K1a*
18 Haifa NJ Druze 16224 16311 16519 16527 73 263 K1a*
19 Haifa NJ Druze 16224 16311 16519 16527 73 263 K1a*
20 Haifa NJ Druze 16224 16311 16519 16527 73 263 K1a*
21 Haifa NJ Druze 16224 16311 16519 16527 73 263 K1a*
22 Haifa NJ Druze 16224 16311 16519 16527 73 263 K1a*
23 Haifa NJ Druze 16224 16311 16519 16527 73 263 K1a*
24 Haifa NJ Druze 16093 16224 16311 16362 16519 73 263 K1a*
25 Haifa NJ Druze 16093 16224 16311 16362 16519 73 263 K1a*
26 Haifa NJ Druze 16093 16224 16311 16362 16519 73 263 K1a*
27 Haifa NJ Druze 16093 16224 16311 16362 16519 73 263 K1a*
28 Haifa NJ Druze 16093 16224 16311 16362 16519 73 263 K1a*
29 Haifa NJ Druze 16093 16224 16311 16362 16519 73 263 K1a*
30 Haifa NJ Druze 16224 16311 16362 16519 73 263 K1a*
31 Haifa NJ Druze 16093 16224 16311 16519 73 263 K1a*
32 Haifa NJ Druze 16167 16216 16224 16311 16368 16519 73 146 195 263 K1a*
33 Haifa Jewish Kurdistan 16114 16129 16224 16311 16519 73 263 K1a*
34 Haifa Jewish Morocco 16171 16224 16311 16519 73 263 K1a*
35 Haifa Jewish Morocco 16224 16311 16519 73 195 263 K1a*
36 Haifa Jewish Morocco 16224 16311 16519 73 195 263 K1a*
37 Haifa Jewish Morocco 16093 16224 16304 16311 16519 73 195 263 K1a*
38 Haifa Jewish Morocco 16224 16311 16318 16519 73 263 K1a*
39 Haifa NJ Palestinians 16224 16242 16311 16519 73 150 152 263 K1a*
40 Haifa NJ Palestinians 16093 16224 16311 16519 73 263 K1a*
41 Haifa Jewish Syria 16129 16224 16311 16519 73 263 K1a*
42 Haifa Jewish Syria 16129 16224 16311 16519 73 263 K1a*
43 Haifa Jewish Yemen 16224 16234 16311 16519 73 263 K1a*
44 Haifa Jewish Yemen 16129 16224 16311 16519 73 143 150 263 K1a*
45 Haifa Jewish Yemen 16224 16311 16519 73 247 257 263 K1a*
46 Haifa Jewish Morocco 16224 16311 16519 73 146 195 263 K1a2
47 Haifa Jewish Morocco 16224 16311 16519 … K1a2
48 Haifa Jewish Austria/ Hungary 16224 16234 16311 16519 73 114 263 K1a1b1a
49 Haifa Jewish Austria/ Hungary 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
50 Haifa Jewish Austria/ Hungary 16224 16234 16311 16519 73 114 263 K1a1b1a
51 Haifa Jewish Bulgaria 16224 16234 16311 16390G/A 16519 73 114 263 K1a1b1a
52 Haifa Jewish Bulgaria 16224 16234 16311 16519 73 114 263 K1a1b1a
53 Haifa Jewish Bulgaria 16224 16234 16311 16519 73 114 263 K1a1b1a
54 Haifa Jewish Bulgaria 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
55 Haifa Jewish Bulgaria 16224 16234 16311 16519 73 114 263 K1a1b1a
56 Haifa Jewish Bulgaria 16224 16234 16311 16519 73 114 263 K1a1b1a
57 Haifa Jewish Czech Republic 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
58 Haifa Jewish Czech Republic 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
59 Haifa Jewish France 16223 16224 16234 16311 16519 73 114 150 263 K1a1b1a
60 Haifa Jewish France 16224 16234 16311 16519 73 114 263 K1a1b1a
61 Haifa Jewish France 16224 16234 16311 16519 73 114 263 K1a1b1a
62 Haifa Jewish France 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
63 Haifa Jewish France 16224 16234 16311 16519 73 114 263 K1a1b1a
64 Haifa Jewish France 16224 16234 16311 16519 73 114 263 K1a1b1a
65 Haifa Jewish France 16224 16234 16311 16519 73 114 263 K1a1b1a
66 Haifa Jewish France 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
67 Haifa Jewish France 16223 16224 16234 16311 16519 73 263 K1a1b1a
68 Haifa Jewish France 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
69 Haifa Jewish France 16224 16234 16311 16519 73 114 263 K1a1b1a
70 Haifa Jewish France 16224 16234 16311 16519 73 114 263 K1a1b1a
71 Haifa Jewish France 16223 16224 16234 16311 16519 73 263 K1a1b1a
72 Haifa Jewish France 16224 16234 16311 16519 73 114 263 K1a1b1a
73 Haifa Jewish France 16224 16234 16283T 16300 16311 16519 73 114 195 263 K1a1b1a
74 Haifa Jewish Germany 16216 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
75 Haifa Jewish Germany 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
76 Haifa Jewish Germany 16224 16234 16311 16519 73 114 263 K1a1b1a
77 Haifa Jewish Germany 16224 16234 16311 16519 73 114 263 K1a1b1a
78 Haifa Jewish Germany 16224 16234 16311 16519 73 114 195 263 K1a1b1a
79 Haifa Jewish Germany 16223 16224 16234 16311 16519 73 263 K1a1b1a
80 Haifa Jewish Germany 16224 16234 16311 16519 73 114 263 K1a1b1a
81 Haifa Jewish Germany 16223 16224 16234 16311 16519 73 263 K1a1b1a
82 Haifa Jewish Germany 16224 16234 16311 16519 73 114 263 K1a1b1a
83 Haifa Jewish Germany 16224 16234 16311 16519 73 195 263 K1a1b1a
84 Haifa Jewish Germany 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
85 Haifa Jewish Germany 16223 16224 16234 16311 16519 73 263 K1a1b1a
86 Haifa Jewish Italy 16224 16234 16311 16519 73 114 263 K1a1b1a
87 Haifa Jewish Italy 16224 16234 16311 16519 73 114 263 K1a1b1a
88 Haifa Jewish Latvia 16223 16224 16234 16311 16519 73 263 K1a1b1a
89 Haifa Jewish Latvia 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
90 Haifa Jewish Lithuania 16214 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
91 Haifa Jewish Lithuania 16093 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
92 Haifa Jewish Lithuania 16224 16234 16311 16519 73 114 263 K1a1b1a
93 Haifa Jewish Lithuania 16224 16234 16311 16519 73 114 263 K1a1b1a
94 Haifa Jewish Moldavia 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
95 Haifa Jewish Netherlands 16224 16234 16311 16519 73 114 263 K1a1b1a
96 Haifa Jewish Netherlands 16223 16224 16234 16311 16519 73 263 K1a1b1a
97 Haifa Jewish Netherlands 16147 16224 16234 16311 16519 73 114 263 K1a1b1a
98 Haifa Jewish Netherlands 16223 16224 16234 16311 16519 73 263 K1a1b1a
99 Haifa Jewish Netherlands 16224 16234 16311 16519 73 114 195 263 K1a1b1a
100 Haifa Jewish Netherlands 16183C 16189 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
101 Haifa Jewish Netherlands 16224 16234 16311 16519 73 114 263 K1a1b1a
102 Haifa Jewish Poland 16093 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
103 Haifa Jewish Poland 16093 16223 16224 16234 16311 355 16519 73 114 263 K1a1b1a
104 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
105 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
106 Haifa Jewish Poland 16224 16234 16311 16519 73 114 263 K1a1b1a
107 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
108 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
109 Haifa Jewish Poland 16224 16234 16311 16519 73 114 263 K1a1b1a
110 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
111 Haifa Jewish Poland 16223 16224 16234 16311 16519 64 73 114 263 K1a1b1a
112 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
113 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
114 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
115 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
116 Haifa Jewish Poland 16189 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
117 Haifa Jewish Poland 16224 16234 16311 16519 73 114 263 K1a1b1a
118 Haifa Jewish Poland 16224 16234 16311 16519 73 263 K1a1b1a
119 Haifa Jewish Poland 16224 16234 16311 16519 73 114 263 K1a1b1a
120 Haifa Jewish Poland 16224 16234 16311 16519 73 114 263 K1a1b1a
121 Haifa Jewish Poland 16224 16234 16311 16519 73 114 263 K1a1b1a
122 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 263 K1a1b1a
123 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
124 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
125 Haifa Jewish Poland 16224 16234 16311 16519 73 114 263 K1a1b1a
126 Haifa Jewish Poland 16224 16234 16311 16519 73 114 263 K1a1b1a
127 Haifa Jewish Poland 16224 16234 16311 16519 73 114 263 K1a1b1a
128 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
129 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
130 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
131 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
132 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
133 Haifa Jewish Poland 16224 16234 16311 16519 73 263 K1a1b1a
134 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
135 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
136 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
137 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
138 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
139 Haifa Jewish Poland 16224 16234 16311 16519 73 114 263 K1a1b1a
140 Haifa Jewish Poland 16093 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
141 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
142 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
143 Haifa Jewish Poland 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
144 Haifa Jewish Romania 16224 16234 16311 16519 73 263 K1a1b1a
145 Haifa Jewish Romania 16224 16234 16311 16519 73 114 263 K1a1b1a
146 Haifa Jewish Romania 16224 16234 16311 16519 73 114 263 K1a1b1a
147 Haifa Jewish Romania 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
148 Haifa Jewish Romania 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
149 Haifa Jewish Romania 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
150 Haifa Jewish Romania 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
151 Haifa Jewish Romania 16223 16224 16234 16263 16311 16519 73 263 K1a1b1a
152 Haifa Jewish Romania 16223 16224 16234 16311 16519 73 195 263 K1a1b1a
153 Haifa Jewish Romania 16224 16234 16311 16519 73 114 263 K1a1b1a
154 Haifa Jewish Romania 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
155 Haifa Jewish Romania 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
156 Haifa Jewish Romania 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
157 Haifa Jewish Romania 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
158 Haifa Jewish Romania 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
159 Haifa Jewish Russia 16224 16234 16293 16311 16519 73 114 263 K1a1b1a
160 Haifa Jewish Russia 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
161 Haifa Jewish Russia 16224 16234 16311 16519 73 114 263 K1a1b1a
162 Haifa Jewish Russia 16224 16234 16311 16519 73 114 263 K1a1b1a
163 Haifa Jewish Switzerland 16224 16234 16311 16519 73 114 263 K1a1b1a
164 Haifa Jewish Turkey 16224 16234 16311 16519 73 114 263 K1a1b1a
165 Haifa Jewish Ukraine 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
166 Haifa Jewish Ukraine 16223 16224 16234 16311 16519 73 114 263 K1a1b1a
167 Haifa Jewish Ukraine 16224 16234 16311 16519 73 114 263 K1a1b1a
168 Haifa Jewish Ukraine 16224 16234 16311 16519 73 114 263 K1a1b1a
169 Haifa Jewish Ukraine 16224 16234 16311 16519 73 114 263 K1a1b1a
170 Haifa Jewish Morocco 16224 16311 16519 73 263 K1a3
171 Haifa Jewish Morocco 16093 16224 16311 16519 73 263 K1a3
172 Haifa Jewish Morocco 16093 16224 16311 16519 73 263 K1a3
173 Haifa Jewish Morocco 16093 16224 16311 16519 73 263 K1a3
174 Haifa Jewish Morocco 16093 16224 16311 16519 73 263 K1a3
175 Haifa Jewish Morocco 16093 16224 16311 16519 73 263 K1a3
176 Haifa NJ Bedouins 16124 16224 16311 16343 16519 121C 146 263 280G K1a4
177 Haifa NJ Cherkess 16093 16224 16234 16311 16519 73 152 263 K1a4
178 Haifa NJ Cherkess 16093 16224 16234 16311 16519 73 152 263 K1a4
179 Haifa NJ Druze 16224 16311 16519 73 263 280G K1a4
180 Haifa NJ Druze 16224 16311 16519 73 263 280G K1a4
181 Haifa Jewish Libya 16129 16224 16239 16311 16390 16519 73 263 K1a4
182 Haifa Jewish Morocco 16224 16256 16311 16519 73 150 263 K1a4
183 Haifa NJ Palestinians 16224 16311 16519 73 263 279 K1a4
184 Haifa NJ Palestinians 16224 16311 16519 73 263 279 K1a4
185 Haifa NJ Palestinians 16093 16224 16311 16519 73 146 263 K1a4
186 Haifa NJ Palestinians 16124 16224 16311 16343 16519 121C 146 263 280G K1a4
187 Haifa Jewish Poland 16224 16256 16311 16519 73 150 263 K1a4
188 Haifa Jewish Romania 16168 16224 16311 16519 73 150 263 K1a4
189 Haifa Jewish Tunisia 16168 16224 16311 16519 73 263 K1a4
190 Haifa Jewish Turkey 16129 16224 16239 16311 16390 16519 73 263 K1a4
191 Haifa Jewish Turkey 16129 168 16189 16224 16311 16519 73 263 K1a4
192 Haifa Jewish Turkey 16168 16189 16224 16311 16519 73 263 K1a4
193 Haifa Jewish Turkey 16224 16256 16311 16519 73 150 263 K1a4
194 Haifa Jewish Austria/Hungary 16093 16224 16311 16519 16524 73 195 263 K1a9
195 Haifa Jewish Austria/Hungary 16093 16224 16311 16519 16524 73 195 263 K1a9
196 Haifa Jewish Austria/Hungary 16093 16224 16311 16519 16524 73 152 195 263 K1a9
197 Haifa Jewish Bulgaria 16093 16224 16311 16519 16524 73 195 263 K1a9
198 Haifa Jewish Bulgaria 16093 16224 16311 16519 16524 73 195 263 K1a9
199 Haifa Jewish Byelorussia 16093 16224 16311 16519 16524 73 195 263 K1a9
200 Haifa Jewish Czech Republic 16093 16224 16311 16519 16524 73 195 263 K1a9
201 Haifa Jewish Former Yugoslavia 16093 16224 16311 16519 16524 73 195 263 K1a9
202 Haifa Jewish France 16093 16224 16311 16519 16524 73 195 263 K1a9
203 Haifa Jewish France 16093 16224 16311 16519 16524 73 195 263 K1a9
204 Haifa Jewish France 16093 16224 16311 16519 16524 73 195 263 K1a9
205 Haifa Jewish Germany 16093 16224 16311 16519 16524 73 195 263 K1a9
206 Haifa Jewish Germany 16093 16224 16311 16519 16524 73 195 263 K1a9
207 Haifa Jewish Iraq 16093 16224 16311 16519 16524 63 64 73 152 195 263 K1a9
208 Haifa Jewish Lithuania 16224 16311 16519 16524 73 195 263 K1a9
209 Haifa Jewish Lithuania 16093 16224 16311 16519 16524 73 195 263 K1a9
210 Haifa Jewish Lithuania 16224 16311 16519 16524 73 195 263 K1a9
211 Haifa Jewish Netherlands 16093 16224 16311 16519 16524 73 195 263 K1a9
212 Haifa Jewish Netherlands 16093 16224 16311 16519 16524 73 195 263 K1a9
213 Haifa Jewish Netherlands 16093 16224 16311 16519 16524 73 152 195 263 K1a9
214 Haifa Jewish Poland 16093 16224 16311 16519 16524 73 195 263 K1a9
215 Haifa Jewish Poland 16224 16311 16519 16524 73 195 263 K1a9
216 Haifa Jewish Poland 16093 16224 16311 16519 16524 73 195 263 K1a9
217 Haifa Jewish Poland 16093 16224 16311 16519 16524 73 195 263 K1a9
218 Haifa Jewish Poland 16093 16224 16311 16519 16524 73 152 195 263 K1a9
219 Haifa Jewish Poland 16093 16224 16311 16519 16524 73 195 263 K1a9
220 Haifa Jewish Poland 16093 16224 16311 16519 16524 73 195 215 263 K1a9
221 Haifa Jewish Poland 16093 16224 16311 16519 16524 73 152 195 263 K1a9
222 Haifa Jewish Romania 16093 16224 16311 16519 16524 73 152 195 263 K1a9
223 Haifa Jewish Romania 16093 16224 16311 16519 16524 73 195 263 K1a9
224 Haifa Jewish Romania 16093 16224 16311 16519 16524 73 152 195 263 K1a9
225 Haifa Jewish Romania 16093 16224 16311 16519 16524 73 195 263 K1a9
226 Haifa Jewish Romania 16093 16224 16311 16519 16524 73 152 195 263 K1a9
227 Haifa Jewish Romania 16093 16224 16311 16519 16524 73 195 263 K1a9
228 Haifa Jewish Romania 16093 16224 16311 16519 16524 73 195 263 K1a9
229 Haifa Jewish Romania 16093 16224 16311 16519 16524 73 195 263 K1a9
230 Haifa Jewish Romania 16093 16224 16311 16519 16524 73 195 263 K1a9
231 Haifa Jewish Russia 16093 16224 16311 16519 16524 73 195 263 K1a9
232 Haifa Jewish Russia 16093 16224 16311 16519 16524 73 195 263 K1a9
233 Haifa Jewish Switzerland 16093 16224 16311 16519 16524 73 195 263 K1a9
234 Haifa Jewish Syria 16093 16224 16311 16519 16524 73 195 263 K1a9
235 Haifa Jewish Turkey 16093 16224 16311 16519 16524 73 195 263 K1a9
236 Haifa Jewish Ukraine 16093 16224 16311 16519 16524 73 195 263 K1a9
237 Haifa Jewish Ukraine 16224 16311 16519 16524 73 195 263 K1a9
238 Haifa Jewish Ukraine 16224 16311 16519 16524 73 195 263 K1a9
239 Haifa Jewish Ukraine 16093 16224 16311 16519 16524 73 195 263 K1a9
240 Haifa Jewish Ukraine 16093 16224 16311 16519 16524 73 195 263 K1a9
241 Haifa Jewish Yemen 16192 16210 16224 16311 16519 73 146 263 K2
242 Haifa Jewish Yemen 16192 16210 16224 16311 16519 73 146 263 K2
243 Haifa Jewish Algeria 16224 16519 16527 73 146 152 263 K2a
244 Haifa Jewish Algeria 16224 16519 73 146 152 263 K2a
245 Haifa Jewish Bulgaria 16192 16224 16311 16519 73 146 263 K2a
246 Haifa Jewish Byelorussia 16224 16311 16519 73 150 152 194 263 K2a
247 Haifa Jewish Iraq 16192 16224 16311 16519 73 146 263 K2a
248 Haifa Jewish Morocco 16224 16519 73 146 152 263 K2a
249 Haifa Jewish Morocco 16224 16519 73 146 152 263 K2a
250 Haifa Jewish Morocco 16224 16519 73 146 152 263 K2a
251 Haifa Jewish Turkey 16192 16224 16311 16519 73 146 263 K2a
252 Haifa Jewish Austria/Hungary 16224 16311 16519 73 146 152 263 K2a2a
253 Haifa Jewish Azerbaijan 16224 16311 16519 73 146 152 263 K2a2a
254 Haifa Jewish Bulgaria 16224 16311 16519 73 146 152 263 K2a2a
255 Haifa Jewish Czech Republic 16224 16311 16519 73 146 152 263 K2a2a
256 Haifa Jewish France 16224 16311 16519 73 146 152 263 K2a2a
257 Haifa Jewish France 16224 16311 16519 73 146 152 263 K2a2a
258 Haifa Jewish Georgia 16224 16311 16519 73 146 152 263 K2a2a
259 Haifa Jewish Latvia 16224 16311 16519 73 146 152 263 K2a2a
260 Haifa Jewish Lithuania 16224 16311 16519 73 146 152 263 K2a2a
261 Haifa Jewish Poland 16224 16311 16519 73 146 152 263 K2a2a
262 Haifa Jewish Poland 16224 16260 16311 16519 73 146 152 263 K2a2a
263 Haifa Jewish Poland 16224 16311 16519 73 146 152 263 K2a2a
264 Haifa Jewish Poland 16224 16311 16519 73 146 152 263 292 K2a2a
265 Haifa Jewish Poland 16224 16261 16311 16519 73 146 152 263 K2a2a
266 Haifa Jewish Poland 16224 16311 16519 73 146 152 263 K2a2a
267 Haifa Jewish Poland 16224 16311 16519 73 146 152 263 K2a2a
268 Haifa Jewish Poland 16224 16311 16519 73 146 152 263 K2a2a
269 Haifa Jewish Poland 16224 16311 16519 73 146 152 263 K2a2a
270 Haifa Jewish Poland 16224 16311 16519 73 146 152 263 K2a2a
271 Haifa Jewish Poland 16224 16311 16519 73 146 152 263 K2a2a
272 Haifa Jewish Poland 16224 16311 16519 73 146 152 263 K2a2a
273 Haifa Jewish Romania 16224 16311 16519 73 146 152 263 K2a2a
274 Haifa Jewish Romania 16224 16311 16519 73 146 152 263 K2a2a
275 Haifa Jewish Romania 16224 16311 16519 73 146 152 263 K2a2a
276 Haifa Jewish Romania 16224 16311 16519 73 146 152 263 K2a2a
277 Haifa Jewish Russia 16224 16311 16519 73 146 152 263 K2a2a
278 Haifa Jewish Russia 16224 16311 16519 73 146 152 263 K2a2a
279 Haifa Jewish Russia 16224 16311 16519 73 146 152 263 K2a2a
280 Paris NJ Gilakis, Iran 16224 16311 16519 73 152 263 K1
281 Paris NJ Baluchis 16224 16311 16319 16463 16519 73 152 199 263 K1b
282 Paris NJ Hunza, Pakistan 16224 16311 16320 16519 73 89 146 195 263 K1b
283 Paris NJ Hunza, Pakistan 16224 16311 16320 16519 73 146 195 263 K1b
284 Paris NJ Persians 16224 16311 16519 73 94 263 K1b
285 Paris NJ Shugnans, Tajikistan 16093 16224 16311 16319 16463 16519 73 152 199 263 K1b
286 Paris NJ Shugnans, Tajikistan 16093 16224 16311 16319 16463 16519 73 152 199 263 K1b
287 Paris NJ Shugnans, Tajikistan 16224 16311 16320 16519 73 146 195 263 K1b
288 Paris NJ Karakalpaks, Uzbekistan 16093 16224 16311 16519 73 195 263 K1a*
289 Paris NJ Kazakhs, Uzbekistan 16224 16311 16519 73 146 152 263 K1a*
290 Paris NJ Kurds, Iran 16129 16224 16311 16519 73 263 K1a*
291 Paris NJ Kurds, Iran 16093 16224 16311 16519 73 150 152 199 263 K1a*
292 Paris NJ Kurds, Turkmenistan 16224 16311 … … K1a*
293 Paris NJ Persians 16224 16311 16519 73 150 152 200 263 K1a*
294 Paris NJ Persians 16111 16224 16311 16488 16519 73 263 K1a*
295 Paris NJ Shugnans, Tajikistan 16172 16224 16301 16311 16519 73 204 207 263 K1a*
296 Paris NJ Turkmenians 16129 16224 16311 16519 73 152 263 K1a*
297 Paris NJ Turks, Iran 16093 16224 16295 16311 16519 73 152 263 K1a*
298 Paris NJ Turks, Iran 16224 16269 16311 16519 73 263 K1a*
299 Paris NJ Uzbeks 16224 16235 16311 16519 73 199 263 K1a*
300 Paris NJ Lurs, Iran 16093 16176 16213 16224 16311 16519 73 150 263 K1a2
301 Paris NJ Uzbeks 16224 16235 16311 16519 73 199 263 K1a2
302 Paris NJ Kurds, Turkmenistan 16093 16209 16224 16311 … … K1a1
303 Paris NJ Kurds, Turkmenistan 16093 16209 16224 16311 16519 73 263 K1a1
304 Paris NJ Kurds, Turkmenistan 16093 16209 16224 16311 16519 73 263 K1a1
305 Paris NJ Turkmenians 16093 16126 16224 16311 16519 73 263 K1a3
306 Paris NJ Turkmenians 16093 16126 16224 16311 16519 73 263 K1a3
307 Paris NJ Turkmenians 16093 16224 16519 73 263 K1a4
308 Paris NJ Pathans 16093 16224 16311 16519 73 146 152 263 K2a
309 Pavia NJ Italians, Central 16224 16311 16519 73 146 152 194 263 K1c
310 Pavia NJ Italians, Central 16075 16224 16311 16519 73 146 152 263 K1c
311 Pavia NJ Italians, South 16224 16311 16362 16519 73 146 152 263 K1c
312 Pavia NJ Italians, South 16224 16311 16362 16519 73 146 152 263 K1c
313 Pavia NJ Italians, Central 16093 16224 16311 16399 16519 73 263 280G K1b
314 Pavia NJ Italians, North 16224 16311 16519 73 146 195 263 K1b
315 Pavia NJ Italians, North 16126 16224 16311 16519 73 146 195 K1b
316 Pavia NJ Italians, Central 16224 16311 16519 73 263 K1a*
317 Pavia NJ Italians, Central 16224 16311 16519 73 263 K1a*
318 Pavia NJ Italians, Central 16224 16311 16519 73 146 263 K1a*
319 Pavia NJ Italians, Central 16224 16311 16519 73 263 K1a*
320 Pavia NJ Italians, Central 16224 16311 16519 73 263 K1a*
321 Pavia NJ Italians, Central 16224 16311 16519 73 263 K1a*
322 Pavia NJ Italians, Central 16224 16311 16519 73 K1a*
323 Pavia NJ Italians, Central 16224 16311 16362 16519 73 263 K1a*
324 Pavia NJ Italians, Central 16224 16311 16362 16519 73 195 263 K1a*
325 Pavia NJ Italians, Central 16224 16300 16311 16519 73 263 K1a*
326 Pavia NJ Italians, Central 16224 16300 16311 16519 73 263 K1a*
327 Pavia NJ Italians, Central 16224 16300 16311 16519 73 263 K1a*
328 Pavia NJ Italians, Central 16224 16278 16311 16519 73 195 263 K1a*
329 Pavia NJ Italians, Central 16224 16278 16311 16519 73 195 263 K1a*
330 Pavia NJ Italians, Central 16224 16263 16311 16519 73 K1a*
331 Pavia NJ Italians, Central 16224 16246 16311 16519 73 152 263 K1a*
332 Pavia NJ Italians, Central 16224 16246 16311 16519 73 152 263 K1a*
333 Pavia NJ Italians, Central 16224 16246 16311 16519 73 152 263 K1a*
334 Pavia NJ Italians, Central 16223 16224 16311 16519 73 K1a*
335 Pavia NJ Italians, Central 16187 16224 16311 16519 73 152 263 K1a*
336 Pavia NJ Italians, Central 16182C 16183C 16189 16222 16224 16311 16519 73 146 K1a*
337 Pavia NJ Italians, Central 16182C 16183C 16189 16222 16224 16311 16519 73 146 K1a*
338 Pavia NJ Italians, Central 16093 16189 16224 16311 16519 73 195 K1a*
339 Pavia NJ Italians, Central 16093 16172 16224 16311 16354 16519 73 204 263 K1a*
340 Pavia NJ Italians, Central 16093 16172 16224 16311 16354 16519 73 199 204 263 K1a*
341 Pavia NJ Italians, Central 16037 16093 16224 16311 16519 73 195 207 263 K1a*
342 Pavia NJ Italians, Central 16037 16093 16224 16311 16519 73 195 207 263 K1a*
343 Pavia NJ Italians, Central 16037 16093 16224 16311 16519 73 195 207 257 263 K1a*
344 Pavia NJ Italians, Central 16037 16093 16224 16311 16519 73 195 207 257 263 K1a*
345 Pavia NJ Italians, Central 16037 16093 16224 16311 16519 73 195 207 257 263 K1a*
346 Pavia NJ Italians, Central 16037 16093 16224 16311 16519 73 195 207 257 263 K1a*
347 Pavia NJ Italians, North 16224 16311 16519 73 263 K1a*
348 Pavia NJ Italians, North 16224 16311 16519 73 195 K1a*
349 Pavia NJ Italians, North 16224 16311 16519 73 189 263 K1a*
350 Pavia NJ Italians, North 16224 16311 16519 73 146 K1a*
351 Pavia NJ Italians, North 16218 16224 16234 16311 16519 73 263 K1a*
352 Pavia NJ Italians, North 16218 16224 16234 16311 16519 73 152 263 K1a*
353 Pavia NJ Italians, North 16218 16224 16234 16311 16519 73 K1a*
354 Pavia NJ Italians, North 16214 16224 16297A 16311 16354 16497 16519 73 152 K1a*
355 Pavia NJ Italians, South 16224 16311 16519 73 263 K1a*
356 Pavia NJ Italians, South 16168 16224 16311 16519 73 200 236 263 K1a*
357 Pavia NJ Italians, South 16093 16224 16311 16519 73 153 K1a*
358 Pavia NJ Italians, South 16093 16224 16311 16519 73 150 K1a*
359 Pavia NJ Italians, South 16093 16129 16224 16311 16519 73 150 263 K1a*
360 Pavia NJ Italians, South 16093 16129 16224 16311 16519 73 150 263 K1a*
361 Pavia NJ Italians, Central 16129 16145 16224 16311 16519 73 263 K1a2
362 Pavia NJ Italians, North 16224 16311 16519 73 K1a2
363 Pavia NJ Italians, North 16145 16224 16311 16519 73 146 152 263 K1a2
364 Pavia NJ Italians, North 16145 16224 16311 16519 73 146 152 263 K1a2
365 Pavia NJ Italians, North 16093 16220C 16224 16311 16519 73 K1a2
366 Pavia NJ Italians, South 16129 16145 16224 16311 16519 73 263 K1a2
367 Pavia NJ Italians, Central 16224 16311 16519 73 94 263 K1a1
368 Pavia NJ Italians, Central 16224 16311 16519 73 263 264 K1a1
369 Pavia NJ Italians, Central 16224 16311 16519 73 263 264 K1a1
370 Pavia NJ Italians, Central 16224 16311 16519 73 K1a1
371 Pavia NJ Italians, Central 16224 16311 16519 73 K1a1
372 Pavia NJ Italians, Central 16181 16224 16311 16519 73 146 152 263 K1a1
373 Pavia NJ Italians, Central 16093 16224 16311 16519 73 152 K1a1
374 Pavia NJ Italians, Central 16093 16224 16311 16519 73 114 K1a1
375 Pavia NJ Italians, Central 16093 16224 16311 16519 73 K1a1
376 Pavia NJ Italians, Central 16093 16224 16311 16519 73 K1a1
377 Pavia NJ Italians, North 16093 16224 16311 16519 73 K1a1
378 Pavia NJ Italians, South 16224 16311 16519 73 94 263 K1a1
379 Pavia NJ Italians, South 16224 16311 16519 73 94 263 K1a1
380 Pavia NJ Italians, South 16224 16311 16519 73 94 263 K1a1
381 Pavia NJ Italians, South 16224 16311 16519 73 94 152 263 K1a1
382 Pavia NJ Italians, South 16224 16311 16519 73 94 K1a1
383 Pavia NJ Italians, Central 16224 16311 16519 73 199 263 K1a4
384 Pavia NJ Italians, Central 16224 16311 16362 16519 73 K1a4
385 Pavia NJ Italians, Central 16074 16224 16311 16519 73 K1a4
386 Pavia NJ Italians, North 16224 16519 73 152 K1a4
387 Pavia NJ Italians, North 16224 16519 73 152 K1a4
388 Pavia NJ Italians, North 16224 16304 16311 16519 73 150 231d K1a4
389 Pavia NJ Italians, North 16224 16311 16519 73 K1a4
390 Pavia NJ Italians, North 16224 16311 16519 152 263 K1a4
391 Pavia NJ Italians, North 16224 16287 16311 16519 73 K1a4
392 Pavia NJ Italians, South 16168 16224 16311 CRS 73 K1a4
393 Pavia NJ Italians, South 16093 16224 16311 16319 16362 16368 16519 73 263 K1a4
394 Pavia NJ Italians, North 16037 16224 16234 16311 16519 73 146 150 K2
395 Pavia NJ Italians, North 16224 16256 16311 16519 73 146 K2
396 Pavia NJ Italians, Central 16224 16311 16519 73 146 152 263 K2a
397 Pavia NJ Italians, Central 16224 16311 16519 73 146 152 263 K2a
398 Pavia NJ Italians, North 16224 16311 16519 73 146 152 263 K2a
399 Pavia NJ Italians, North 16224 16311 16519 73 146 152 263 K2a
400 Pavia NJ Italians, North 16224 16311 16519 73 146 152 263 K2a
401 Pavia NJ Italians, North 16224 16311 16519 73 146 152 K2a
402 Pavia NJ Italians, North 16224 16311 16519 73 146 152 K2a
403 Pavia NJ Italians, North 16224 16311 16519 73 146 152 K2a
404 Pavia NJ Italians, North 16224 16311 16519 73 146 152 K2a
405 Porto NJ Portuguese 16224 16311 … 73 146 152 263 K1c
406 Porto NJ Portuguese 16224 16278 16311 … 73 146 152 263 K1c
407 Porto NJ Portuguese 16224 16311 … 73 146 152 263 K1c
408 Porto NJ Portuguese 16311 … 73 146 150 152 263 K1c
409 Porto NJ Portuguese 16224 16311 … 73 195 263 K1a*
410 Porto NJ Portuguese 16093 16224 16311 … 73 150 195 263 K1a*
411 Porto NJ Portuguese 16093 16224 16311 … 73 146 195 263 K1a*
412 Porto NJ Portuguese 16224 16311 … 73 150 263 K1a*
413 Porto NJ Portuguese 16114C/A 16224 16311 … 73 195 263 K1a*
414 Porto NJ Portuguese 16224 16311 … 73 195 263 K1a*
415 Porto NJ Portuguese 16093 16224 16311 … 73 195 263 K1a*
416 Porto NJ Portuguese 16093 16224 16311 … 73 195 263 K1a*
417 Porto NJ Portuguese 16224 16311 … 73 263 K1a2
418 Porto NJ Portuguese 16093 16224 16311 … 73 195 249del 263 K1a1
419 Porto NJ Portuguese 16093 16224 16311 … 73 152 263 K1a1b1
420 Porto NJ Portuguese 16093 16224 16311 … 73 114 152 263 K1a1b1
421 Porto NJ Portuguese 16093 16223 16224 16311 … 73 152 263 K1a1b1
422 Porto NJ Portuguese 16093 16224 16311 … 73 263 316 K1a1b1
423 Porto NJ Portuguese 16093 16224 16290 16311 … 73 263 K1a3
424 Porto NJ Portuguese 16093 16224 16311 … 73 195 263 K1a3
425 Porto NJ Portuguese 16093 16224 16311 … 73 263 K1a3
426 Porto NJ Portuguese 16224 16311 … 73 263 K1a4
427 Porto NJ Portuguese 16224 16311 … 73 263 K1a4
428 Porto NJ Portuguese 16224 16311 … 73 263 K1a4
429 Porto NJ Portuguese 16224 16311 … 73 263 K1a4
430 Porto NJ Portuguese 16093 16224 16311 … 73 263 K1a4
431 Porto NJ Portuguese 16224 16311 … 73 263 K1a4
432 Porto NJ Portuguese 16224 16304 16311 … 73 263 K1a4
433 Tartu NJ Estonians 16189 16224 16311 … … K1a*
434 Tartu NJ Slovakians 16093 16224 16311 … … K1a*
435 Tartu NJ Slovakians 16093 16224 16311 … … K1a*
436 Tartu NJ Slovakians 16093 16224 16301 16311 … … K1a*
437 Tartu NJ Slovakians 16093 16224 16301 16311 … … K1a*
438 Tartu NJ Slovakians 16093 16224 16234 16311 … … K1a*
439 Tartu NJ Byelorussians 16224 16311 … … K1c
440 Tartu NJ Croatians 16224 16311 … … K1c
441 Tartu NJ Estonians 16224 16311 … … K1c
442 Tartu NJ Estonians 16224 16311 … … K1c
443 Tartu NJ French 16224 16311 … … K1c
444 Tartu NJ Iranians 16179 16224 16311 … … K1c
445 Tartu NJ Italians, Siena 16224 16311 … … K1c
446 Tartu NJ Latvians 16224 16311 … … K1c
447 Tartu NJ Latvians 16224 16311 … … K1c
448 Tartu NJ Latvians 16224 16311 … … K1c
449 Tartu NJ Latvians 16224 16311 … … K1c
450 Tartu NJ Russians, Belgorod 16224 16311 16368 … … K1c
451 Tartu NJ Russians, Cossacks 16224 16311 16362 16368 … … K1c
452 Tartu NJ Russians, Smolensk 16224 16311 … … K1c
453 Tartu NJ Slovakians 16224 16311 … … K1c
454 Tartu NJ Slovakians 16224 16311 16343 … … K1c
455 Tartu NJ Slovakians 16224 16311 16343 … … K1c
456 Tartu NJ Slovakians 16224 16311 … … K1c
457 Tartu NJ Slovakians 16224 16311 … … K1c
458 Tartu NJ Slovakians 16224 16311 16320 … … K1c
459 Tartu NJ Slovakians 16224 16311 16320 … … K1c
460 Tartu NJ Slovakians 16224 16311 16368 … … K1c
461 Tartu NJ Slovakians 16224 16311 16368 … … K1c
462 Tartu NJ Ukrainians, Belgorod 16224 16311 … … K1c
463 Tartu NJ Ukrainians, Hmelnitsk 16224 16311 … … K1c
464 Tartu NJ Ukrainians, Hmelnitsk 16224 16311 16368 … … K1c
465 Tartu NJ Ukrainians, Hmelnitsk 16311 16368 … … K1c
466 Tartu NJ Albanians 16168 16224 16311 … … K1b
467 Tartu NJ Albanians 16224 16311 … … K1b
468 Tartu NJ Armenians 16167 16209 16224 16311 16319 … … K1b
469 Tartu NJ Armenians 16167 16209 16224 16311 16319 … … K1b
470 Tartu NJ Armenians 16167 16209 16224 16311 16319 … … K1b
471 Tartu NJ Croatians 16224 16311 … … K1b
472 Tartu NJ Estonians 16093 16224 16311 … … K1b
473 Tartu NJ Estonians 16184 16224 16311 … … K1b
474 Tartu NJ Estonians 16224 16311 … … K1b
475 Tartu NJ Estonians 16224 16311 … … K1b
476 Tartu NJ French 16215 16224 16311 16319 … … K1b
477 Tartu NJ French 16224 16311 … … K1b
478 Tartu NJ French 16224 16311 … … K1b
479 Tartu NJ Hungarians 16224 16311 … … K1b
480 Tartu NJ Iranians 16213 16224 16311 … … K1b
481 Tartu NJ Iranians 16213 16224 16311 … … K1b
482 Tartu NJ Iranians 16213 16224 16311 … … K1b
483 Tartu NJ Iranians 16224 16311 … … K1b
484 Tartu NJ Iranians 16224 16311 … … K1b
485 Tartu NJ Moroccans 16224 16311 … … K1b
486 Tartu NJ Moroccans 16224 16311 … … K1b
487 Tartu NJ Moroccans 16176 16224 16311 16344 … … K1b
488 Tartu NJ Russians, Belgorod 16224 16311 16319 … … K1b
489 Tartu NJ Saudi Arabians 16213 16224 16311 … … K1b
490 Tartu NJ Slovakians 16224 16311 … … K1b
491 Tartu NJ Slovakians 16224 16304 16311 … … K1b
492 Tartu NJ Slovakians 16224 16304 16311 … … K1b
493 Tartu NJ Slovakians 16224 16304 16311 … … K1b
494 Tartu NJ Tunisians 16126 16224 16311 … … K1b
495 Tartu NJ Ukrainians, Lviv 16224 16311 … … K1b
496 Tartu NJ Albanians 16129 16224 16301 16311 … … K1a*
497 Tartu NJ Albanians 16129 16224 16301 16311 … … K1a*
498 Tartu NJ Albanians 16129 16224 16301 16311 … … K1a*
499 Tartu NJ Albanians 16224 16311 … … K1a*
500 Tartu NJ Algerians 16189 16224 16311 … … K1a*
501 Tartu NJ Armenians 16224 16311 … … K1a*
502 Tartu NJ Armenians 16224 16311 … … K1a*
503 Tartu NJ Armenians 16224 16311 … … K1a*
504 Tartu NJ Armenians 16037 16224 16311 … … K1a*
505 Tartu NJ Armenians 16093 16224 16260 16311 … … K1a*
506 Tartu NJ Armenians 16093 16224 16260 16311 … … K1a*
507 Tartu NJ Armenians 16093 16189 16224 16264 16311 … … K1a*
508 Tartu NJ Avars, NC 16224 16311 … … K1a*
509 Tartu NJ Avars, NC 16224 16260 16311 … … K1a*
510 Tartu NJ Avars, NC 16224 16260 16311 … … K1a*
511 Tartu NJ Avars, NC 16224 16260 16311 … … K1a*
512 Tartu NJ Avars, NC 16224 16260 16311 … … K1a*
513 Tartu NJ Avars, NC 16224 16260 16311 … … K1a*
514 Tartu NJ Avars, NC 16224 16260 16311 … … K1a*
515 Tartu NJ Avars, NC 16224 16260 16311 … … K1a*
516 Tartu NJ Byelorussians 16093 16189 16224 16311 … … K1a*
517 Tartu NJ Cretans 16093 16189 16224 16304 16311 … … K1a*
518 Tartu NJ Cretans 16224 16260 16311 … … K1a*
519 Tartu NJ Cretans 16224 16311 … … K1a*
520 Tartu NJ Croatians 16224 16311 16325 … … K1a*
521 Tartu NJ Croatians 16093 16224 16311 16325 … … K1a*
522 Tartu NJ Croatians 16093 16224 16311 16325 … … K1a*
523 Tartu NJ Croatians 16093 16224 16311 … … K1a*
524 Tartu NJ Croatians 16093 16224 16311 … … K1a*
525 Tartu NJ Croatians 16129 16224 16301 16311 … … K1a*
526 Tartu NJ Croatians 16224 16311 … … K1a*
527 Tartu NJ Croatians 16224 16311 … … K1a*
528 Tartu NJ French 16224 16245 16311 … … K1a*
529 Tartu NJ French 16093 16224 16311 … … K1a*
530 Tartu NJ French 16189 16224 16311 … … K1a*
531 Tartu NJ French 16224 16311 … … K1a*
532 Tartu NJ Georgians 16224 16311 … … K1a*
533 Tartu NJ Georgians 16224 16311 … … K1a*
534 Tartu NJ Georgians 16093 16224 16278 16311 … … K1a*
535 Tartu NJ Georgians 16189 16224 16311 … … K1a*
536 Tartu NJ Georgians 16093 16187 16224 16311 … … K1a*
537 Tartu NJ Georgians 16093 16224 16311 … … K1a*
538 Tartu NJ Greeks 16224 16311 … … K1a*
539 Tartu NJ Greeks 16224 16311 … … K1a*
540 Tartu NJ Greeks 16224 16311 … … K1a*
541 Tartu NJ Greeks 16129 16224 16311 … … K1a*
542 Tartu NJ Iranians 16224 16311 16356 … … K1a*
543 Tartu NJ Iranians 16224 16239 16311 … … K1a*
544 Tartu NJ Iranians 16093 16224 … … K1a*
545 Tartu NJ Iranians 16224 16234 16311 16362 … … K1a*
546 Tartu NJ Iranians 16224 16311 … … K1a*
547 Tartu NJ Iranians 16224 16311 … … K1a*
548 Tartu NJ Iranians 16224 16311 … … K1a*
549 Tartu NJ Iranians 16224 16311 … … K1a*
550 Tartu NJ Iranians 16224 16311 … … K1a*
551 Tartu NJ Iranians 16224 16311 16362 … … K1a*
552 Tartu NJ Italians, Siena 16037 16224 16311 … … K1a*
553 Tartu NJ Italians, Siena 16093 16187 16224 16311 … … K1a*
554 Tartu NJ Italians, Siena 16093 16224 16292 16311 … … K1a*
555 Tartu NJ Italians, Siena 16093 16224 16311 … … K1a*
556 Tartu NJ Jordanians 16126 16224 16225 16311 … … K1a*
557 Tartu NJ Jordanians 16093 16224 16311 … … K1a*
558 Tartu NJ Jordanians 16093 16224 16311 … … K1a*
559 Tartu NJ Jordanians 16093 16224 16311 … … K1a*
560 Tartu NJ Kabardins, NC 16093 16224 16311 … … K1a*
561 Tartu NJ Kabyles 16162 16224 16311 … … K1a*
562 Tartu NJ Kumyks 16189 16222 16224 16311 … … K1a*
563 Tartu NJ Kumyks 16189 16222 16224 16311 … … K1a*
564 Tartu NJ Kumyks 16093 16158 16224 16311 16320 … … K1a*
565 Tartu NJ Kuwaitis 16126 16224 16225 16311 … … K1a*
566 Tartu NJ Kuwaitis 16189 16224 16311 … … K1a*
567 Tartu NJ Kuwaitis 16093 16224 16311 … … K1a*
568 Tartu NJ Kuwaitis 16192 16224 16311 … … K1a*
569 Tartu NJ Kuwaitis 16093 16224 16311 … … K1a*
570 Tartu NJ Lebanese 16224 16311 … … K1a*
571 Tartu NJ Lebanese 16144 16224 16311 … … K1a*
572 Tartu NJ Lebanese 16093 16224 16311 … … K1a*
573 Tartu NJ Lebanese 16224 16311 … … K1a*
574 Tartu NJ Lezgines, NC 16189 16224 16311 … … K1a*
575 Tartu NJ Lezgines, NC 16224 16304 16311 … … K1a*
576 Tartu NJ Libyans 16093 16224 16311 … … K1a*
577 Tartu NJ Libyans 16093 16224 16311 … … K1a*
578 Tartu NJ Moroccans 16093 16224 16311 … … K1a*
579 Tartu NJ Moroccans 16224 16311 … … K1a*
580 Tartu NJ Moroccans 16093 16224 16311 … … K1a*
581 Tartu NJ Moroccans 16224 16311 … … K1a*
582 Tartu NJ Moroccans 16224 16311 … … K1a*
583 Tartu NJ Moroccans 16048 16093 16224 16311 … … K1a*
584 Tartu NJ Moroccans 16224 16311 16362 … … K1a*
585 Tartu NJ Moroccans 16093 16224 16311 … … K1a*
586 Tartu NJ Moroccans 16093 16224 16311 … … K1a*
587 Tartu NJ Ossetes 16222A 16224 16234 16311 … … K1a*
588 Tartu NJ Ossetes 16093 16176 16192 16224 16311 … … K1a*
589 Tartu NJ Russians, Belgorod 16224 16311 … … K1a*
590 Tartu NJ Russians, Pinega 16093 16184 16224 16311 … … K1a*
591 Tartu NJ Russians, Pinega 16093 16224 16311 … … K1a*
592 Tartu NJ Russians, Pinega 16093 16224 16261 16311 … … K1a*
593 Tartu NJ Russians, Pinega 16093 16224 16311 … … K1a*
594 Tartu NJ Saudi Arabians 16176 16224 16311 … … K1a*
595 Tartu NJ Saudi Arabians 16093 16224 16260 16311 … … K1a*
596 Tartu NJ Saudi Arabians 16224 16311 … … K1a*
597 Tartu NJ Saudi Arabians 16093 16224 16311 … … K1a*
598 Tartu NJ Slovakians 16093 16224 16301 16311 … … K1a*
599 Tartu NJ Slovakians 16093 16224 16311 … … K1a*
600 Tartu NJ Syrians 16224 16311 … … K1a*
601 Tartu NJ Syrians 16093 16172 16224 16311 … … K1a*
602 Tartu NJ Syrians 16224 16311 … … K1a*
603 Tartu NJ Syrians 16224 16260 16311 … … K1a*
604 Tartu NJ Syrians 16224 16311 … … K1a*
605 Tartu NJ Syrians 16224 16311 … … K1a*
606 Tartu NJ Syrians 16224 16311 … … K1a*
607 Tartu NJ Tabasarans, NC 16093 16224 16278 16311 … … K1a*
608 Tartu NJ Tunisians 16224 16252C 16311 … … K1a*
609 Tartu NJ Tunisians 16093 16224 16311 … … K1a*
610 Tartu NJ Tunisians 16093 16224 16239 16311 … … K1a*
611 Tartu NJ Turks 16129 16224 16311 … … K1a*
612 Tartu NJ Turks 16129 16224 16311 … … K1a*
613 Tartu NJ Turks 16093 16224 16311 … … K1a*
614 Tartu NJ Turks 16093 16224 16311 … … K1a*
615 Tartu NJ Turks 16224 16311 … … K1a*
616 Tartu NJ Turks 16224 16311 … … K1a*
617 Tartu NJ Turks 16224 16260 16311 … … K1a*
618 Tartu NJ Turks 16224 16260 16311 … … K1a*
619 Tartu NJ Turks 16224 16311 … … K1a*
620 Tartu NJ Turks 16224 16311 … … K1a*
621 Tartu NJ Turks 16224 16311 … … K1a*
622 Tartu NJ Turks 16086 16114 16224 16311 … … K1a*
623 Tartu NJ Turks 16093 16224 16260 16311 … … K1a*
624 Tartu NJ Ukrainians, Belgorod 16093 16224 16258C 16311 … … K1a*
625 Tartu NJ Ukrainians, Hmelnitsk 16111 16129 16224 16311 … … K1a*
626 Tartu NJ Croatians 16093 16224 16311 … … K1a2
627 Tartu NJ Georgians 16093 16189 16224 16311 … … K1a2
628 Tartu NJ Greeks 16093 16224 16311 … … K1a2
629 Tartu NJ Moroccans 16224 16287 16311 … … K1a2
630 Tartu NJ Moroccans 16224 16287 16311 … … K1a2
631 Tartu NJ Russians, Pinega 16093 16224 16261 16311 … … K1a2
632 Tartu NJ Russians, Pinega 16093 16224 16261 16311 … … K1a2
633 Tartu NJ Turks 16224 16311 … … K1a2
634 Tartu NJ Albanians 16224 16311 … … K1a1
635 Tartu NJ Armenians 16224 16311 … … K1a1
636 Tartu NJ Armenians 16224 16311 … … K1a1
637 Tartu NJ Armenians 16224 16311 … … K1a1
638 Tartu NJ Armenians 16093 16224 16311 … … K1a1
639 Tartu NJ Byelorussians 16093 16224 16311 16380 … … K1a1
640 Tartu NJ Cretans 16093 16224 16311 … … K1a1
641 Tartu NJ Cretans 16093 16224 16311 … … K1a1
642 Tartu NJ Cretans 16093 16224 16311 16365 … … K1a1
643 Tartu NJ Croatians 16222 16224 16261 16311 … … K1a1
644 Tartu NJ Croatians 16093 16224 16311 … … K1a1
645 Tartu NJ Croatians 16093 16224 16311 … … K1a1
646 Tartu NJ French 16224 16311 … … K1a1
647 Tartu NJ French 16224 16240 16311 … … K1a1
648 Tartu NJ Georgians 16224 16290 16311 … … K1a1
649 Tartu NJ Greeks 16224 16311 … … K1a1
650 Tartu NJ Hungarians 16093 16224 16311 … … K1a1
651 Tartu NJ Iranians 16224 16240 16311 … … K1a1
652 Tartu NJ Iranians 16093 16224 16304 16311 … … K1a1
653 Tartu NJ Iranians 16093 16145 16224 16311 … … K1a1
654 Tartu NJ Iranians 16221 16224 16311 … … K1a1
655 Tartu NJ Italians, Siena 16224 16311 … … K1a1
656 Tartu NJ Jordanians 16224 16311 … … K1a1
657 Tartu NJ Jordanians 16093 16104A 16224 16311 … … K1a1
658 Tartu NJ Kuwaitis 16093 16224 16311 … … K1a1
659 Tartu NJ Lebanese 16224 16311 … … K1a1
660 Tartu NJ Lebanese 16224 16311 … … K1a1
661 Tartu NJ Russians, Cossacks 16093 16224 16311 … … K1a1
662 Tartu NJ Tunisians 16224 16311 … … K1a1
663 Tartu NJ Turks 16224 16311 16318 … … K1a1
664 Tartu NJ Turks 16070 16224 16311 16365 … … K1a1
665 Tartu NJ French 16224 16311 … … K1a1b1
666 Tartu NJ Italians, Siena 16093 16224 16311 … … K1a1b1
667 Tartu NJ Italians, Siena 16093 16224 16311 … … K1a1b1
668 Tartu NJ Kabyles 16093 16224 16311 … … K1a1b1
669 Tartu NJ Moroccans 16093 16224 16311 … … K1a1b1
670 Tartu NJ Slovakians 16093 16224 16311 … … K1a1b1
671 Tartu NJ Tunisians 16224 16311 … … K1a1b1
672 Tartu NJ Ukrainians, Hmelnitsk 16172 16223 16224 16234 16311 … … K1a1b1a
673 Tartu NJ Algerians 16224 16311 … … K1a3
674 Tartu NJ French 16224 16311 … … K1a3
675 Tartu NJ Georgians 16189 16224 16311 … … K1a3
676 Tartu NJ Iranians 16037 16224 16278 16311 … … K1a3
677 Tartu NJ Iranians 16093 16145 16209 16224 16311 … … K1a3
678 Tartu NJ Kuwaitis 16224 16311 … … K1a3
679 Tartu NJ Libyans 16224 16311 … … K1a3
680 Tartu NJ Nogais, NC 16167 16224 16311 16359 … … K1a3
681 Tartu NJ Saudi Arabians 16224 16261 16311 16362 … … K1a3
682 Tartu NJ Slovenians 16093 16167 16224 16311 … … K1a3
683 Tartu NJ Tunisians 16224 16311 … … K1a3
684 Tartu NJ Tunisians 16224 16311 … … K1a3
685 Tartu NJ Tunisians 16093 16224 16311 … … K1a3
686 Tartu NJ Tunisians 16224 16311 … … K1a3
687 Tartu NJ Tunisians 16224 16311 … … K1a3
688 Tartu NJ Ukranians, Hmelnitsk 16093 16224 16311 … … K1a3
689 Tartu NJ Adyghes, NC 16224 16246T 16311 … … K1a4
690 Tartu NJ Cretans 16168 16224 16311 … … K1a4
691 Tartu NJ Cretans 16168 16224 16311 … … K1a4
692 Tartu NJ Cretans 16224 16311 … … K1a4
693 Tartu NJ Croatians 16093 16224 16286 16311 … … K1a4
694 Tartu NJ Croatians 16224 16304 16311 … … K1a4
695 Tartu NJ Estonians 16224 16245 16311 … … K1a4
696 Tartu NJ Estonians 16224 16246T 16265 … … K1a4
697 Tartu NJ Estonians 16224 16311 16320 … … K1a4
698 Tartu NJ Estonians 16224 16311 16320 … … K1a4
699 Tartu NJ Georgians 16093 16224 … … K1a4
700 Tartu NJ Georgians 16093 16224 16311 … … K1a4
701 Tartu NJ Georgians 16093 16224 16311 … … K1a4
702 Tartu NJ Georgians 16093 16224 16311 … … K1a4
703 Tartu NJ Georgians 16093 16224 16311 16362 … … K1a4
704 Tartu NJ Greeks 16186 16192 16224 16311 16354 … … K1a4
705 Tartu NJ Greeks 16224 16256 16311 … … K1a4
706 Tartu NJ Greeks 16093 16186 16224 16311 16354 … … K1a4
707 Tartu NJ Hungarians 16169 16224 16246T 16311 … … K1a4
708 Tartu NJ Iranians 16186 16224 16311 … … K1a4
709 Tartu NJ Iranians 16224 16311 … … K1a4
710 Tartu NJ Iranians 16186 16189 16224 16311 … … K1a4
711 Tartu NJ Iranians 16186 16189 16224 16311 … … K1a4
712 Tartu NJ Iranians 16224 16311 … … K1a4
713 Tartu NJ Iranians 16093 16146 16189 16224 16311 … … K1a4
714 Tartu NJ Iranians 16093 16186 16224 16311 … … K1a4
715 Tartu NJ Iranians 16093 16224 16311 … … K1a4
716 Tartu NJ Italians, Siena 16074 16224 16311 … … K1a4
717 Tartu NJ Italians, Siena 16074 16224 16311 … … K1a4
718 Tartu NJ Jordanians 16224 16290 16311 16355 … … K1a4
719 Tartu NJ Jordanians 16224 16311 … … K1a4
720 Tartu NJ Karachais, NC 16093 16224 16311 … … K1a4
721 Tartu NJ Karachais, NC 16093 16224 16311 … … K1a4
722 Tartu NJ Karachais, NC 16093 16224 16311 … … K1a4
723 Tartu NJ Lebanese 16172 16224 16256 16311 … … K1a4
724 Tartu NJ Lebanese 16224 16256 16311 … … K1a4
725 Tartu NJ Lezgines , NC 16174 16224 16246T 16311 … … K1a4
726 Tartu NJ Lezgines , NC 16093 16224 16246T 16311 … … K1a4
727 Tartu NJ Moroccans 16224 16311 … … K1a4
728 Tartu NJ Moroccans 16220 16224 16278 16311 … … K1a4
729 Tartu NJ Moroccans 16224 16286 16311 … … K1a4
730 Tartu NJ Nogais, NC 16093 16224 16311 … … K1a4
731 Tartu NJ Nogais, NC 16093 16224 16311 … … K1a4
732 Tartu NJ Russians, Belgorod 16093 16193 16224 16311 … … K1a4
733 Tartu NJ Slovakians 16093 16201 16224 16278 16311 … … K1a4
734 Tartu NJ Slovenians 16169 16224 16246T 16311 … … K1a4
735 Tartu NJ Syrians 16074 16224 16311 … … K1a4
736 Tartu NJ Syrians 16093 16224 16301 16311 … … K1a4
737 Tartu NJ Tabasarans, NC 16201 16224 16311 … … K1a4
738 Tartu NJ Tunisians 16224 16311 … … K1a4
739 Tartu NJ Tunisians 16224 16311 … … K1a4
740 Tartu NJ Tunisians 16224 16311 … … K1a4
741 Tartu NJ Turks 16168 16224 16234 16311 … … K1a4
742 Tartu NJ Turks 16224 16311 … … K1a4
743 Tartu NJ Turks 16224 16311 … … K1a4
744 Tartu NJ Turks 16093 16224 16311 … … K1a4
745 Tartu NJ Turks 16093 16224 16311 … … K1a4
746 Tartu NJ Turks 16093 16224 16311 … … K1a4
747 Tartu NJ Ukrainians, Belgorod 16224 16311 16354 … … K1a4
748 Tartu NJ Ukrainians, Lviv 16093 16189 16224 16278 16311 … … K1a4
749 Tartu NJ Lebanese 16093 16224 16234 16311 … … K1a8
750 Tartu NJ Saudi Arabians 16224 16234 16311 … … K1a8
751 Tartu NJ Syrians 16224 16234 16311 … … K1a8
752 Tartu NJ Hungarians 16093 16224 16311 … … K1a9
753 Tartu NJ Albanians 16224 16311 … … K2
754 Tartu NJ Croatians 16224 16311 … … K2
755 Tartu NJ Croatians 16224 16311 … … K2
756 Tartu NJ French 16224 16270 16311 … … K2
757 Tartu NJ Hungarians 16168 16224 16256 16311 16344 … … K2
758 Tartu NJ Kabyles 16086 16203 16224 16311 16362 … … K2
759 Tartu NJ Kabyles 16224 16311 16362 … … K2
760 Tartu NJ Kalmyks, NC 16224 16311 … … K2
761 Tartu NJ Moroccans 16189 16224 16311 … … K2
762 Tartu NJ Moroccans 16189 16224 16311 … … K2
763 Tartu NJ Russians, Cossacks 16224 16311 … … K2
764 Tartu NJ Russians, Kostroma 16224 16290 16311 … … K2
765 Tartu NJ Russians, Kostroma 16224 16311 … … K2
766 Tartu NJ Tunisians 16189 16224 16311 … … K2
767 Tartu NJ Abazins, NC 16224 16311 … … K2a
768 Tartu NJ Abazins, NC 16224 16311 … … K2a
769 Tartu NJ Abazins, NC 16224 16311 … … K2a
770 Tartu NJ Byelorussians 16224 16311 … … K2a
771 Tartu NJ French 16224 16311 … … K2a
772 Tartu NJ French 16224 16311 … … K2a
773 Tartu NJ French 16224 16311 … … K2a
774 Tartu NJ French 16224 16311 … … K2a
775 Tartu NJ French 16069 16224 16311 … … K2a
776 Tartu NJ Iranians 16111 16172 16189 16311 … … K2a
777 Tartu NJ Kabardins, NC 16224 16311 … … K2a
778 Tartu NJ Kabardins, NC 16224 16311 … … K2a
779 Tartu NJ Kabardins, NC 16224 16311 … … K2a
780 Tartu NJ Kabardins, NC 16224 16311 … … K2a
781 Tartu NJ Lezgines, NC 16224 16311 … … K2a
782 Tartu NJ Nogais, NC 16224 16311 … … K2a
783 Tartu NJ Nogais, NC 16224 16311 … … K2a
784 Tartu NJ Nogais, NC 16224 16311 … … K2a
785 Tartu NJ Ossetes, NC 16093 16189 16224 16311 … … K2a
786 Tartu NJ Ossetes, NC 16093 16189 16224 16311 … … K2a
787 Tartu NJ Slovakians 16214 16224 16311 … … K2a
788 Tartu NJ Slovakians 16224 16311 16325 … … K2a
789 Tartu NJ Turks 16224 16311 … … K2a
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Note.— The control-region information reported from Haifa and Paris extends from 16024 to 00300. The control-region information reported from Tartu is consistent with HVS-I and spans from 16024 to 16400. The control-region information reported from Pavia extends from 16024 to at least 00200 and, in most cases, up to 00300. The control-region data from Porto extends from 16024 to 16365 and from 00072 to 00340. The hypervariable nucleotides 16182 and 16183 in HVS-I and the indels at nucleotides 309 and 315 in HVS-II were excluded from the analysis. See table 6.

a

NJ = non-Jewish.

b

NC = North Caucasus.

K1a1b1a is marked by two coding-region transitions, 10978 and 12954, and includes 14 of the 121 complete sequences. Seven of these are reported for the first time herein and are from Ashkenazi subjects, whereas the other seven were reported elsewhere as forming a specific cluster termed “K1a” (Herrnstadt et al. 2002). The ethnicities or religious affiliations of these seven subjects are not available, but they were all collected in the United States and shared the control-region mutations with the Ashkenazi samples. Since the majority of contemporary Ashkenazi Jews reside in the United States, it is possible that this cluster represents a sample set of Ashkenazi Jews, though we have no way to confirm or refute this.

K1a9 mtDNAs are marked only by the control-region transition 16524 but lack the diagnostic mutations of the other K1a2 through K1a8 subHgs (fig. 1). Six samples belong to this lineage—four of which, from Ashkenazi Jews, are reported herein for the first time. The other two mtDNAs were reported elsewhere, and the same considerations noted for subHg K1a1b1a, with respect to the ethnic or religious affiliation, also apply (Herrnstadt et al. 2002). K2a2a mtDNAs are marked by three coding-region transitions: 9254, 11348, and 11914. Three mtDNAs belong to this lineage, two of which are from Ashkenazi individuals and are reported herein for the first time. The third mtDNA was reported elsewhere in the same U.S. data set (Herrnstadt et al. 2002).

After the delineation of the Hg K topology and in a search for clues regarding the possible origin of the Ashkenazi lineages, 789 Hg K mtDNAs of a global set of 13,359 samples (tables 5 and 6) were hierarchically screened for polymorphisms relevant to include or exclude the samples from the three Ashkenazi K subbranches—K1a1b1a, K1a9, and K2a2a. The position of the three dominant Ashkenazi founding sequences within the phylogenetic tree of 789 Hg K genomes is illustrated in figure 2. Of the 182 Ashkenazi Hg K mtDNAs, 179 could be readily assigned to K1a1b1a, K1a9, or K2a2a (table 6), demonstrating that virtually all Hg K genomes present in the Ashkenazi Jews belong to these three distinct monophyletic clades and, in turn, comprise 30% of all Ashkenazi maternal lineages. Of 123 K1a1b1a mtDNAs (fig. 2 and table 6), 122 were from Jews—113 of Ashkenazi and 9 of Spanish-exile ancestry (6 Bulgarian, 2 Italian, and 1 Turkish). The only non-Jewish K1a1b1a mtDNA that shared the HVS-I haplotype 16223-16224-16234-16311 with the Ashkenazi Jews was found in a subject from Hmelnitski, a Ukrainian town with a major Jewish settlement until the Second World War. As for K1a9, 48 of the 789 K mtDNAs were members of this subHg (fig. 2 and table 6), and 47 were from Jews—41 Ashkenazi, 4 Spanish exile (2 Bulgarian, 1 former Yugoslavian, and 1 from Turkey), 1 from Iraq, and 1 from Syria. A subHg K1a9 mtDNA was found in one Hungarian of unidentified ethnic or religious affiliation. Finally, 28 (25 Ashkenazi Jews, 1 Bulgarian Jew, 1 Georgian Jew, and 1 Azerbaijani Jew) of the 789 K samples belonged to subHg K2a2a (fig. 2 and table 6). This subHg and its parental Hg were not found in any of 11,452 non-Jewish samples.

Table 5.

Description of the Populations

Ethnic Group N Hg K % Available Reporting Laboratory First Report
Jewish: 1,694 245 14 244
 Ashkenazi: 583 186 32 182
  Austria/Hungary 29 7 24 7 Haifa Behar et al. 2004
  Byelorussia 10 2 2 2 Haifa Behar et al. 2004
  Czech Republic 15 4 27 4 Haifa Behar et al. 2004
  Estonia 1 0 0 0 Haifa Behar et al. 2004
  France 49 20 41 20 Haifa Behar et al. 2004
  Germany 32 14 44 14 Haifa Behar et al. 2004
  Latvia 8 3 38 3 Haifa Behar et al. 2004
  Lithuania 30 8 27 8 Haifa Behar et al. 2004
  Moldavia 1 1 1 1 Haifa Behar et al. 2004
  Netherlands 21 10 48 10 Haifa Behar et al. 2004
  Poland 170 63 37 63 Haifa Behar et al. 2004
  Romania 97 29 3 29 Haifa Behar et al. 2004
  Russia 63 9 14 9 Haifa Behar et al. 2004
  Switzerland 3 2 67 2 Haifa Behar et al. 2004
  Ukraine 54 10 19 10 Haifa Behar et al. 2004
 Caucasian: 132 2 2 2
  Azerbaijan 58 1 2 1 Haifa Present article
  Georgia 74 1 1 1 Haifa Present article
 Ethiopian 29 0 0 0 Haifa Present article
 Indian: 79 0 0 0
  Bombay 34 0 0 0 Haifa Present article
  Malabar Coast 45 0 0 0 Haifa Present article
 Near and Middle Eastern: 251 7 3 6
  Afghanistan 1 0 0 0 Haifa
  Iran 82 0 0 0 Haifa Present article
  Iraq 135 3 2 2 Haifa Present article
  Kurdistan, Iraq 12 1 8 1 Haifa Present article
  Uzbekistan 17 0 0 0 Haifa Present article
  Syria 4 3 75 3 Haifa Present article
 North African: 288 28 1 28
  Algeria 20 3 15 3 Haifa Present article
  Libya 83 1 1 1 Haifa Present article
  Morocco 148 23 16 23 Haifa Present article
  Tunisia 37 1 3 1 Haifa Present article
 Spanish exile:a 213 20 9 20
  Bulgaria 71 10 14 10 Haifa Present article
  Italy 9 2 22 2 Haifa Present article
  Turkey 123 7 6 7 Haifa Present article
  Former Yugoslavia 1 1 1 1 Haifa Present article
  Miscellaneous 9 0 0 0 Haifa Present article
 Yemeni 119 6 5 6 Haifa Present article
Non-Jewish: 11,452 636 6 545
 Anatolian, Turkish 388 23 6 23 Tartu Present article
 Caucasian: 1,750 106 6 69
  Abazins 63 3 5 3 Tartu Present article
  Adyghes 159 11 7 1 Tartu Present article
  Armenians 193 16 8 14 Tartu Present article
  Avars 88 8 9 8 Tartu Present article
  Georgians 340 32 9 14 Tartu Present article
  Kabardins 66 10 15 4 Tartu Present article
  Kalmyks 120 1 1 1 Tartu Present article
  Karachais 106 4 4 4 Tartu Present article
  Kumyks 112 3 3 3 Tartu Present article
  Lezgines 41 5 12 5 Tartu Present article
  Nogais 206 6 3 6 Tartu Bermisheva et al. 2002
  Ossetes 201 4 2 4 Tartu Present article
  Tabassarans 52 3 5 2 Tartu Present article
 Central and southwest Asian: 411 20 5 20
  Baluchis 39 1 3 1 Paris Quintana-Murci et al. 2004
  Hunza 44 2 5 2 Paris Quintana-Murci et al. 2004
  Karakalpaks 57 1 2 1 Paris Present article
  Kazakhs 50 1 2 1 Paris This study
  Kurds, Turkmenistan 32 4 13 4 Paris Quintana-Murci et al. 2004
  Pathans 44 1 2 1 Paris Quintana-Murci et al. 2004
  Shugnans, Tajikistan 44 4 9 4 Paris Quintana-Murci et al. 2004
  Turkmenians 51 4 8 4 Paris Present article
  Uzbeks 50 2 4 2 Paris Present article
 European: 5,719 314 5 273
  Albanians 199 8 4 8 Tartu Present article
  Byelorussians 187 6 3 4 Tartu Present article
  Cretans 186 14 5 9 Tartu Present article
  Croatians 459 18 4 18 Tartu Present article
  Estonians 410 11 3 11 Tartu Present article
  French 142 18 13 18 Tartu Present article
  Greeks 87 10 11 9 Tartu Present article
  Hungarians 116 5 4 5 Tartu Present article
  Italians, North 328 32 1 30 Pavia Present article
  Italians, Central 875 50 6 50 Pavia Present article
  Italians, Siena 150 10 7 10 Tartu Present article
  Italians, South 236 16 7 16 Pavia Present article
  Latvians 192 4 2 4 Tartu Present article
  Portuguese 549 32 6 28 Porto Pereira et al. 2004
  Russians, Belgorod 148 5 3 4 Tartu Present article
  Russians, Cossacks 132 8 6 3 Tartu Present article
  Russians, Kostroma 79 4 5 2 Tartu Present article
  Russians, Pinega 144 15 1 6 Tartu Present article
  Russians, Smolensk 147 3 2 1 Tartu Present article
  Slovakians 512 24 5 24 Tartu Present article
  Slovenians 111 9 8 2 Tartu Present article
  Ukrainians, Belgorod 91 5 5 3 Tartu Present article
  Ukrainians, Hmelnitsk 137 8 6 6 Tartu Present article
  Ukrainians, Lviv 102 3 3 2 Tartu Present article
 Near and Middle Eastern: 1,844 116 6 116
  Bedouins 58 2 3 2 Haifa Present article
  Cherkess, Israel 8 2 25 2 Haifa Present article
  Druze 77 23 3 23 Haifa Present article
  Gilakis, Iran 37 1 3 1 Paris Quintana-Murci et al. 2004
  Iranians 436 31 7 31 Tartu Metspalu et al. 2004
  Jordanians 202 8 4 8 Tartu Present article
  Kurds, Iran 20 2 1 2 Paris Quintana-Murci et al. 2004
  Kuwaitis 202 7 3 7 Tartu Present article
  Lebanese 172 9 5 9 Tartu Present article
  Lurs, Iran 17 1 6 1 Paris Quintana-Murci et al. 2004
  Palestinians 110 8 7 8 Haifa Present article
  Persians 42 3 7 3 Paris Quintana-Murci et al. 2004
  Saudi Arabians 204 7 3 7 Tartu Present article
  Syrians 219 10 5 10 Tartu Present article
  Turks, Iran 40 2 5 2 Paris Quintana-Murci et al. 2004
 North African: 1,340 57 4 44
  Algerians 124 7 6 2 Tartu Present article
  Kabyles 65 4 6 4 Tartu Present article
  Libyans 105 6 6 3 Tartu Present article
  Moroccans 530 24 5 20 Tartu Present article
  Tunisians 516 16 3 15 Tartu Present article
Total 13,359 885 7 789
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a

The designation “Spanish exile” is applied to those Jewish communities that emanated from the Iberian Peninsula after the exile of Jews in 1492.

Table 6.

SubHg Affiliation of the 789 mtDNAs Belonging to K[Note]

Ethnic Group K1 K1c K1b K1a* K1a2 K1a1 K1a1b1 K1a1b1a K1a3 K1a4 K1a8 K1a9 K2 K2a K2a2a Total
Jewish: 7 1 11 2 122 6 9 47 2 9 28 244
 Ashkenazi: 113 2 41 1 25 182
  Austria/Hungary 3 3 1 7
  Byelorussia 1 1 2
  Czech Republic 2 1 1 4
  Estonia 0
  France 15 3 2 20
  Germany 12 2 14
  Latvia 2 1 3
  Lithuania 4 3 1 8
  Moldavia 1 1
  Netherlands 7 3 10
  Poland 42 1 8 12 63
  Romania 15 1 9 4 29
  Russia 4 2 3 9
  Switzerland 1 1 2
  Ukraine 5 5 10
 Caucasian: 2 2
  Azerbaijan 1 1
  Georgia 1 1
 Ethiopian 0
 Indian: 0
  Bombay 0
  Malabar coast 0
 Near and Middle Eastern: 3 2 1 6
  Afghanistan 0
  Iran 0
  Iraq 1 1 2
  Kurdistan 1 1
  Uzbekistan 0
  Syria 2 1 3
 North African: 7 5 2 6 3 5 28
  Algeria 1 2 3
  Libya 1 1
  Morocco 6 5 2 6 1 3 23
  Tunisia 1 1
 Spanish Exile: 9 4 4 2 1 20
  Bulgaria 6 2 1 1 10
  Italy 2 2
  Turkey 1 4 1 1 7
  Former Yugoslavia 1 1
  Miscellaneous 0
 Yemeni 1 3 2 6
Non-Jewish: 1 35 42 225 17 51 11 1 21 88 3 1 16 33 545
 Anatolian, Turkish 13 1 2 6 1 23
 Caucasian: 3 30 1 5 2 14 1 13 69
  Abazins 3 3
  Adyghes 1 1
  Armenians 3 7 4 14
  Avars 8 8
  Georgians 6 1 1 1 5 14
  Kabardins 1 3 4
  Kalmyks 1 1
  Karachais 3 1 4
  Kumyks 3 3
  Lezgines 2 2 1 5
  Nogais 1 2 3 6
  Ossetes 2 2 4
  Tabasarans 1 1 2
 Central and southwest Asian: 6 6 1 3 2 1 1 20
  Baluchis 1 1
  Hunza 2 2
  Karakalpaks 1 1
  Kazakhs 1 1
  Kurds, Turkmenistan 1 3 4
  Pathans 1 1
  Shugnans (Tajikistan) 3 1 4
  Turkmenians 1 2 1 4
  Uzbeks 1 1 2
 European: 34 20 96 11 31 8 1 6 38 1 10 17 273
  Albanians 2 4 1 1 8
  Byelorussians 1 1 1 1 4
  Cretans 3 3 3 9
  Croatians 1 1 8 1 3 2 2 18
  French 1 3 4 2 1 1 1 5 18
  Greeks 4 1 1 3 9
  Hungarians 1 1 1 1 1 5
  Italians, North 2 8 4 1 6 2 7 30
  Italians, Central 2 1 31 1 10 3 2 50
  Italians, Siena 1 4 1 2 2 10
  Italians, South 2 6 1 5 2 16
  Latvians 4 4
  Portuguese 4 8 1 1 4 3 7 28
  Russians, Belgorod 1 1 1 1 4
  Russians, Cossacks 1 1 1 3
  Russians, Kostroma 2 2
  Russians, Pinega 4 2 6
  Russians, Smolensk 1 1
  Slovakians 9 4 7 1 1 2 24
  Slovenians 1 1 2
  Ukrainians, Belgorod 1 1 1 3
  Ukrainians, Hmelnitsk 3 1 1 1 6
  Ukrainians, Lviv 1 1 2
  Estonians 2 4 1 4 11
 Near and Middle Eastern: 1 1 9 64 1 9 4 23 3 1 116
  Bedouins 1 1 2
  Cherkess 2 2
  Druze 21 2 23
  Gilakis, Iran 1 1
  Iranians 1 5 10 4 2 8 1 31
  Jordanians 4 2 2 8
  Kurds, Iran 2 2
  Kuwaitis 5 1 1 7
  Lebanese 4 2 2 1 9
  Lurs, Iran 1 1
  Palestinians 2 2 4 8
  Persians 1 2 3
  Saudi Arabians 1 4 1 1 7
  Syrians 7 2 1 10
  Turks, Iran 2 2
 North African: 4 16 2 1 3 7 6 5 44
  Algerians 1 1 2
  Kabyles 1 1 2 4
  Libyans 2 1 3
  Moroccans 3 9 2 1 3 2 20
  Tunisians 1 3 1 1 5 3 1 15
Total 1 42 43 236 19 51 11 123 27 97 3 48 18 42 28 789
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Note.— All K mtDNAs reported herein harbored the diagnostic marker G9055A, as confirmed by -9052HaeII. Diagnostic markers for the subclassification of K mtDNAs were selected on the basis of the complete mtDNA sequence data (fig. 2). Nucleotide positions 295, 497, 498, 1189, 4561, 7927, 8697, 8703, 8790, 9254, 9647, 9716, 10398, 11025, 11914, 13117, 11470, 11485, 15924, 10978, and 12954 were surveyed by direct sequencing, whereas nucleotides 1189, 5913, 9716, 10398, and 11914 were evaluated by either direct sequencing or RFLP survey (+1186RsaI, +5913HaeIII, +9714BsaI, +10398DdeI, and −11914TaiI or −11911HpyCH4IV, respectively).

Figure 2.

Figure 2

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The location of the three Ashkenazi lineages (light blue) belonging to Hg K in a global set of complete K sequences. For the network construction, first, a topology network encompassing the 91 branches found in the total set of 121 complete K sequences was drawn using the same principles described in figure 1. For simplicity, we used only one complete mtDNA sequence per node, and we indicate only the coding-region nucleotide positions that are relevant in the context of the three Ashkenazi lineages K1a1b1a, K1a9, and K2a2a, with the exception of positions 497, 498D, and 16524, which define K1a, K1c, and K1a9, respectively. Branch lengths were sometimes distorted to increase legibility. Then, the topology network was compared with a second phylogenetic tree of the entire set of 789 K mtDNAs analyzed hierarchically for the diagnostic mutations (red). All Jews of North African, Caucasian, Near Eastern, and Spanish-exile ancestry were aggregated into the category of “non-Ashkenazi Jews.” Likewise, all non-Jewish samples from Anatolia, the Caucasus, central and southwestern Asia, and the Near East were aggregated into the category of “West Asia.” Circle sizes are proportional to the haplotype frequency in the sample.

The same principles were followed to investigate the high incidence of Hg N1b in Ashkenazi Jews. Hg N1b is virtually absent in Europeans but appears at frequencies of ∼3% or higher in those from Levant, Arabia, and Egypt (Richards et al. 2003; Kivisild et al. 2004; unpublished results of Tartu and Haifa groups). This Hg is defined by the transversion C16176G, relative to the revised Cambridge Reference Sequence (rCRS) (Andrews et al. 1999), and is reported in all non-Jewish Near Eastern N1b mtDNAs. However, all but one of the Ashkenazi N1b mtDNAs were found to harbor a C→A transversion at nucleotide position 16176. To assess whether this was another Ashkenazi founding lineage, we followed the same approach applied to Hg K. We randomly chose two mtDNAs for complete sequencing and identified several shared mutations that were absent in a previously reported N1b complete sequence (Maca-Meyer et al. 2001) (fig. 3). We then examined nucleotide positions 11928 and 12092—sites of two of the private mutations—in 82 N1b mtDNAs that were available to us (table 7). Fifty-six of the 57 Ashkenazi Jews, the Spanish-exile Jews, and the Moroccan Jew, who shared 16176A, could be assigned to this same lineage. The single Ashkenazi and all other mtDNAs with 16176G did not harbor the mutations at 11928 and 12092. Curiously, the 16176A transversion probably occurred twice in the phylogeny of N1b. Indeed, we have found lineages with 16176A in Slavic-speaking populations both in the Balkans and in Ukraine, but these possessed HVS-I mutations different from those present among the Jews, and they did not harbor the mutations at 11928 and 12092; thus, they are clearly phylogenetically distinct from N1b genomes of the Ashkenazi Jews.

Figure 3.

Figure 3

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Most parsimonious tree of complete Hg N1b mtDNA sequences. The tree encompasses the two complete Ashkenazi N1b sequences and one previously published sequence (Maca-Meyer et al. 2001). The same considerations detailed in figure 1 are relevant here. Nucleotide positions 11928 and 12092 (bold) were examined in all N1b mtDNAs.

Table 7.

N1b Haplotypes in Jews and Near Eastern Non-Jews[Note]

Control Region AuJ BrJ CzJ EsJ FrJ GeJ LiJ NeJ PoJ RoJ RuJ SwJ UkJ GeoJ IrJ MorJ BuJ TuJ Bed Dru Pal 11928(A)a 12092(C)a
Jews: 4 1 2 1 8 4 5 2 10 10 5 1 4 1 3 1 4 2
 Ashkenazi: 4 1 2 1 8 4 5 2 10 10 5 1 4
  16145 16176A 16188A 16223 16390 16519 73 152 263 1 G T
  16145 16176A 16223 16368 16390 16519 152 263 1 G T
  16145 16176A 16223 16390 16519 73 102 152 263 1 G T
  16145 16176A 16223 16390 16519 73 152 214 263 1 G T
  16145 16176A 16223 16390 16519 73 152 263 4 1 2 1 8 2 4 2 9 9 5 4 G T
  16145 16176A 16223 16390 16519 NAb 1 G T
  16145 16176G 16223 16390 16519 NAb 1 A C
 Caucasus:
  16145 16176G 16223 16390 16519 73 152 263 1 A C
 Near and Middle East:
  16126 16145 16176G 16390 16519 73 152 195 263 3 A C
 North Africa:
  16145 16176A 16223 16390 16519 73 152 263 1 G T
 Spanish Exile:
  16145 16176A 16223 16390 16519 73 152 263 4 2 G T
 Near Eastern Non-Jews: 1 2 11
  16073G 16126 16145 16176G 16223 16390 16519 73 152 195 263 1 A C
  16126 16145 16176G 16183C 16189 16223 16390 16519 73 152 201 263 2 A C
  16145 16176G 16178 16183C 16189 16223 16390 16519 73 152 201 263 1 A C
  16145 16176G 16183C 16189 16223 16390 16519 73 152 201 263 7 A C
  16145 16176G 16223 16304 16390 16519 73 152 263 1 A C
  16145 16176G 16223 16309 16390 73 152 263 297 1 A C
  16145 16176G 16223 16390 16519 73 152 263 1 A C
Total 4 1 2 1 8 4 5 2 10 10 5 1 4 1 3 1 4 2 1 2 11
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Note.— Population sample labels: Austria/Hungary (AuJ); Byelorussia (BrJ); Czech Republic (CzJ); Estonia (EsJ); France (FrJ); Germany (GeJ); Lithuania (LiJ); Netherlands (NeJ); Poland (PoJ); Romania (RoJ); Russia (RuJ); Switzerland (SwJ); Ukraine (UkJ); Georgia (GeoJ); Iraq (IrJ); Morocco (MorJ); Bulgaria (BuJ); Turkey (TuJ); Bedouins (Bed); Druze (Dru); Palestinians (Pal). All N1b mtDNAs reported herein harbored the diagnostic marker T10238C, as confirmed by +10237HphI. The two diagnostic positions, 11928 and 12092, identified by the complete sequence analysis of the two N1b mtDNAs, were examined by direct sequencing in all Jewish, Druze, Palestinian, and Bedouin mtDNAs.

a

Letters in parentheses denote the rCRS nucleotide at that position.

b

Not available after nucleotide 16540.

In total, we have identified four Ashkenazi founding lineages, three within Hg K and one in Hg N1b, deriving from only four ancestral women and accounting for fully 40% of the mtDNAs of the current Ashkenazi population (∼8,000,000 people). The most dominant of these lineages, K1a1b1a, encompasses 62% of the Ashkenazi K mtDNAs, which translates into 19.4% of contemporary Ashkenazi Jews, or ∼1,700,000 people. The second most common lineage is within Hg N1b and corresponds to an additional 800,000 people. We compared the pattern of lineage distribution seen in Ashkenazi Jews with a global database of ∼30,000 mtDNAs, 13,359 of which are from populations in which Hg K and N1b are present (table 6), and we could not detect anything similar. For instance, in European populations, the closest the existing literature offers is the database of 192 complete Finnish mtDNA sequences (Finnila et al. 2001). Though these mtDNAs were nonrandomly selected from a larger control-region database of nearly 500 individuals living in a north-central region of Finland, a typical, frequently derived, phylogenetically recent lineage comprises merely 3%–4% of the total. In the study of Coble et al. (2004), the entire mtDNA sequences of 241 individuals matching 1 of the 18 most common control-region haplotypes in European Caucasian populations were determined. The frequency of these 18 haplotypes was found to account for only 20.8% of the European Caucasian mtDNAs—a very significant difference compared with the Ashkenazi Jews, for which four complete sequence haplotypes comprise 42% of the mtDNAs. Furthermore, even mtDNAs with the same control-region motif were rarely found to completely match at the coding-region level, with an average coding-region mismatch of 6.2 mutations observed within the 241 completely sequenced mtDNAs. This would correspond to an approximate average date of 15,000–16,000 years ago for the most recent common ancestor, under the same assumptions used to calculate the coalescence of the Ashkenazi lineages (see below). Therefore, in contrast to Thomas et al. (2002), we conclude that a significant founding event is, indeed, readily evident in the maternal history of Ashkenazi Jews. Thomas et al. (2002) based their analysis on a portion of the HVS-I region (nucleotide positions 16093–16383) from 78 subjects and, in contrast to Torroni et al. (1996) and Behar et al. (2004), reported that the most frequent sequence found in their Ashkenazi sample (their “modal haplotype”) is identical to the HVS-I sequence of the so-called rCRS, with a frequency not significantly different from that observed among their European host populations. However, it is now well established that the rCRS sequence in HVS-I can be found in several different Hgs—H, HV, pre-HV, U, and a paraphyletic group R*. Thus, although the inference by Thomas et al. (2002) soundly emanates from the results of their limited sample size and subfragment analysis, the conclusion reached is not borne out with the use of control-region analysis in a larger sample set. Moreover, even under the improbable assumption that all rCRS mtDNAs studied by Thomas et al. (2002) belonged to Hg H, additional genealogical resolution is not provided, since such a motif can be found in a diverse variety of subclades of Hg H, many of which diverged from a common ancestor >10,000 years ago (Finnila et al. 2001; Herrnstadt et al. 2002; Achilli et al. 2004; Loogväli et al. 2004; Pereira et al. 2005), a time frame uninformative for studying recent ancestries in general and the founding of the Ashkenazi population in particular. Complete sequencing of Ashkenazi mtDNA genomes with the rCRS sequence motif in their HVS-I region, as demonstrated for Hg K and N1b in the current study, would be a straightforward approach to reveal additional maternal founder lineages among such mtDNAs.

The coalescence time for each of the four lineages was calculated independently in two ways: from HVS-I and from the entire coding-region sequence (table 8). When we analyzed the coding-region data, we used only the information obtained from the novel complete mtDNA genomes in which Ashkenazi ancestry was firmly established (table 1). Historical records suggest the establishment of the Ashkenazi population during the 7th and 8th centuries in the Rhine valley by a few migrating families arriving from northern Italy (Ostrer 2001). The estimated number of Ashkenazi Jews in the 12th and 13th centuries is 25,000, a number sufficient to keep allelic frequencies largely in balance against random genetic drift within ∼30–40 generations. Therefore, the demographic history suggests that the crucial founder events are likely to have occurred sometime before the 12th century, whereas the expansion phase of Ashkenazi Jewry in Europe, with its ups and downs, has lasted more than a millennium. Our coalescence analysis is in agreement with this assumption, since the expansion time calculations for the four Ashkenazi lineages point to the past 20 centuries and are close to the historical founding period of the Ashkenazi population. It should be noted that, despite relatively large SDs, the coalescence time estimates for the four maternal founder Ashkenazi lineages are at least an order of magnitude lower than those obtained for the corresponding parental clades, which clearly signals a recent beginning of their expansion.

Table 8.

Coalescence Ages of the Four Major Ashkenazi mtDNA Lineages

Agea
 SDb
Hg and SubHg N ρ Years σ Years
HVS-I:
 K1a1b1a:
  16224 16234 16311 46 .09 1,755 .04 877
  16223 16224 16234 16311 67 .16 3,313 .07 1,506
 K1a9:
  16224 16311 5 0 0 .20 4,036
  16093 16224 16311 36 0 0 .03 561
 K2a2a:
  16224 16311 25 .08 1,614 .06 1,142
 N1b:
  16145 16176A 16223 56 .04 721 .03 510
Coding region:
 K1a1b1a:
  Entire branch 14 .36 1,835 .16 821
  Ashkenazi 7 .14 742 .14 742
 K1a9:
  Entire branch 6 .33 1,713 .24 1,211
  Ashkenazi 4 .50 2,569 .35 1,816
 K2a2a:
  Ashkenazi 2 0 0 .50 2,569
 N1b:
  Ashkenazi 2 0 0 .50 2,569
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a

Coalescence time was calculated by considering one transition between nucleotides 16090–16365 (HVS-I) equal to 20,180 years (Forster et al. 1996) and one base substitution between nucleotides 577–16023 (coding region) equal to 5,138 years (Mishmar et al. 2003).

b

SD of the ρ estimate (σ) was calculated as reported elsewhere (Saillard et al. 2000).

There are two fundamental questions with respect to the geographic origin of the Ashkenazi founding lineages. First, were these lineages a part of the mtDNA pool of a population ancestral to Ashkenazi Jews in the Near East, or were they established within the Ashkenazi Jews later in Europe, as a result of introgression from European or Eurasian groups? Second, where did these lineages expand? The observed global pattern of distribution renders very unlikely the possibility that the four aforementioned founder lineages entered the Ashkenazi mtDNA pool via gene flow from a European host population. For example, in databases of HVS-I sequences of British, Irish, German, French, or Italian subjects, these Ashkenazi sample founder lineage sequences were not observed (Baasner et al. 1998; Lutz et al. 1998; Pfeiffer et al. 2001). Furthermore, the non-Ashkenazi Jewish populations sharing the Ashkenazi mtDNA Hg K lineages turn out to be from Jewish communities that trace their origins to the expulsion from Spain in 1492. Either a shared ancestral origin of the two groups or, alternatively, a postexile admixture between neighboring Ashkenazi and Spanish-exile Jewish populations may explain the sharing of these maternal lineages. However, the very presence of the Ashkenazi founding lineages, albeit at low frequencies, in North African, Near Eastern, and Caucasian Jews, supports a common Levantine ancestry. The maternal subclade from which the Ashkenazi mtDNA lineage K2a2a arose was not found in any other of the populations reported herein (table 6). The Ashkenazi K1a9 and K1a1b1a lineages were not found in non-Jews, with the exception of the former in a single Hungarian and the latter in a single Ukrainian, both of unknown ethnicity. However, it is of interest that K1a1b1a sister lineages, which share with it a common ancestry at the internal nodal level of subclade K1a1b1 (fig. 2), can be found in Portugal, Italy, France, Morocco, and Tunisia (table 6). This reveals that this particular limb of the Hg K phylogenetic tree is of a wider Mediterranean presence and origin. Likewise, the distribution of Hg N1b in southwestern Asia and North Africa (Rando et al. 1998; Richards et al. 2000) supports a Near Eastern, rather than a European, origin for this Hg. It is noteworthy that our extensive sample set from the Caucasus (table 5) does not offer any hint that the four dominant Ashkenazi mtDNA lineages might have arrived from this region. However, it can be concluded that, irrespective of where exactly the mutations defining these Ashkenazi lineages arose, their expansion clearly took place during the time period of the sojourn of the Ashkenazi population in Europe.

It is important to note that, although our findings clarify the restricted nature of mtDNA lineage diversity carried by Ashkenazi Jewry and provide evidence of a founder event specifically for the matrilineal ancestry, some questions remain unsolved and could be the focus of future studies. First, our findings are not sufficient to answer questions about the extent and location of the ancestral deme from which Ashkenazi Jewry, as a population, arose. It is possible that, for the MSY and autosomal loci, different patterns might be observed. Second, our findings cannot provide a quantitative assessment of the Ashkenazi population bottleneck, because the fraction of the ancestral maternal deme represented by the four particular founding lineages that we have identified cannot be determined. Third, the effects on the nuclear genome of the maternal founding event, whose mtDNA population genetic imprint we have observed, is influenced by other parameters, such as admixture, recombination events, and paternal contribution, that have occurred through the generations. The quantitative contribution of each of these parameters is not known, and these are likely to result in a different pattern for the nuclear genome, compared with that of mtDNA. Nevertheless, the analysis of mtDNA sequence variation enables the detailed and quantitative elucidation of a maternal founder event, which cannot be inferred from analysis of other genomic regions.

In conclusion, the present study highlights the importance of a combined phylogenetic/phylogeographic strategy that includes complete mtDNA sequence analysis to accurately portray maternal founding events and to infer conclusions relevant to both shared ancestries and population-level effects that shaped the mtDNA gene pool in a given population. In the Ashkenazi Jews, this approach enabled us to reconstruct a detailed phylogenetic tree for the major Ashkenazi Hgs K and N1b, allowing the detection of a small set of only four individual female ancestors, likely from a Hebrew/Levantine mtDNA pool, whose descendants lived in Europe and carried forward their particular mtDNA variants to 3,500,000 individuals in a time frame of <2 millennia. This founding event(s), established here as a dominant mechanism in the genetic maternal history of the Ashkenazi Jews, is a vivid example of the founder effect originally described by Mayr (1963) 4 decades ago.

Acknowledgments

We thank the individuals who provided samples for this study, the National Laboratory for the Genetics of Israeli Populations, which also provided samples, and Vered Friedman and Guennady Yudkovsky for technical assistance. This research was supported in part by Israeli Science Foundation grants (to K.S.), the Annie Chutick Endowment and Technion (to K.S.), the Estonian Science Foundation (to E.M. and T.K.), European Union Framework Programme Genemill and Genera grants (to R.V.), the Consiglio Nazionale della Ricerche–Ministro dell'Istruzione dell'Univerita e della Ricerca (CNR-MIUR) Genomica Funzionale-Legge 449/97 (to A.T.), the Fondo Investimenti Ricerca di Base 2001 (to A.T.), the Progetti Ricerca Interesse Nazionale 2005 (to A.T.), the National Science Foundation (to N.H.), and Programa Operacional Ciência, Tecnologia e Inovação (to A. Amorim).

Appendix A: Methods

Sampling

A total of 583 Ashkenazi Jewish and 1,111 non-Ashkenazi Jewish samples were analyzed for mtDNA Hg-specific markers, identifying 186 and 63 samples, respectively, belonging to Hg K (HVS-I data for 565 of the Ashkenazi samples have been reported elsewhere [Behar et al. 2004]). Of the 186 samples found among Ashkenazi Jews and the 63 Hg K samples found among non-Ashkenazi Jews, 182 and 62, respectively, were available for further genotyping. Next, we identified Hg K samples in all population sample collections available from the laboratories in Haifa, Tartu, Pavia, Porto, and Paris, and we reported only populations in which Hg K samples were found and available for further genotyping. We evaluated a total of 11,452 samples from 67 populations and identified 636 Hg K samples, 545 of which were available for further genotyping. Table 5 details the total number of samples available from each population, the number of Hg K samples within each population, the number of Hg K samples from each population that were technically available for genotyping in this study, the reporting laboratory, and the first study in which the samples were reported (Bermisheva et al. 2002; Behar et al. 2004; Pereira et al. 2004; Quintana-Murci et al. 2004). We then examined the same data set of Jewish samples described above for the presence of Hg N1b samples and identified a total of 57 and 11 Hg N1b samples in Ashkenazi and non-Ashkenazi Jews, respectively. We also reported the results of 14 Hg N1b samples found in the same Druze, Palestinian, and Bedouin samples included in the sample set described above (table 5), and we compared the Ashkenazi N1b Hg mtDNAs with the unpublished database of 8,644 Caucasian, European, Near and Middle Eastern, and North African subjects included in this study and available in Tartu (table 5). All samples reported herein were derived from blood, buccal swab, or blood cell samples that were collected with informed consent, in accordance with procedures approved by institutional human subjects review committees in their respective locations. All subjects reported the birthplace of their mothers, grandmothers, and, in most cases, great-grandmothers.

Control-Region Sequencing

Sequences of the control region were determined from position 16024 to 00300, by use of the ABI Prism Dye Terminator cycle-sequencing protocols developed by Applied Biosystems (Perkin-Elmer). Control-region sequence data were used to define haplotypes within the Hgs. The control-region information reported from Haifa and Paris extends from 16024 to 00300. The control-region information reported from Tartu spans from 16024 to 16400, corresponding to HVS-I. The control-region information reported from Pavia extends from 16024 to at least 00200 and, in most cases, up to 00300. The control-region information reported from Porto extends from 16024 to 16365 and from 00072 to 00340. The hypervariable positions 16182 and 16183 in HVS-I and the indels at positions 00309 and 00315 in HVS-II were excluded from the analysis (tables 1 and 4).

Complete mtDNA Sequencing

DNA was amplified using 18 primers to yield nine overlapping fragments, as reported elsewhere (Taylor et al. 2001). After purification, the nine fragments were sequenced by means of 56 internal primers to obtain the complete mtDNA genome. Sequencing was performed on a 3100 DNA Analyzer (Applied Biosystems), and the resulting sequences were analyzed with the SEQUENCHER software. Mutations were scored relative to the rCRS (Andrews et al. 1999). The novel 28 Hg K and 2 N1b complete mtDNA sequences reported herein have been submitted to GenBank (accession numbers DQ301789–DQ301818). Quality control was assured as follows: first, each base pair was determined once with a forward and once with a reverse primer; second, any ambiguous base call was tested by additional and independent PCR and sequencing reactions; and third, all sequences were examined by two independent investigators.

Hg Labeling

All Hg K samples reported herein harbored the diagnostic marker G9055A, as confirmed by the RFLP reaction −9052HaeII. Diagnostic markers for genotyping subclades of Hg K were selected on the basis of the analyses of the complete mtDNA sequences. Positions 295, 497, 498, 1189, 4561, 7927, 8697, 8703, 8790, 9254, 9647, 9716, 10398, 11025, 11914, 13117, 11470, 11485, 15924, 10978, and 12954 were obtained by direct sequencing. Positions 1189, 5913, 9716, 10398, and 11914 were obtained by direct sequencing or by means of RFLPs +1186RsaI, +5913HaeIII, +9714BsaI, +10398DdeI, and −11914TaiI or −11911HpyCH4IV, respectively. All Hg N1b samples reported herein harbored the diagnostic marker T10238C, as confirmed by +10237HphI. Two diagnostic positions, 11928 and 12092, derived from the complete mtDNA sequences analysis of the two Hg N1b samples, were examined by direct sequencing in all Jewish, Druze, Palestinian, and Bedouin samples.

Nomenclature

We followed a consensus Hg nomenclature scheme (Richards et al. 1998). Numbers 1–16569 refer to the position of the mutation in the rCRS (Andrews et al. 1999). We use the term “lineage” to denote a cluster of related, evolving haplotypes within an Hg. Note that haplotypes and lineages can relate to HVS-I, to the control region, or to the complete mtDNA sequence data. Nomenclature within Hg K has been the subject of some ambiguity because of the recycling of the designation “K1a” (Herrnstadt et al. 2002; Palanichamy et al. 2004). We followed the definitions of both publications for “K1” and “K2.” We followed Palanichamy et al. (2004) for the definitions of “K1a,” “K1a1,” “K1a2,” “K1b,” “K1c,” and “K2a” and corrected in this article a few inaccuracies reported for the samples labeled “SF#153” and “CH#365.” Herrnstadt et al. (2002) used the designation of “K1a” for one subHg of K. To avoid confusion and because this lineage was found to be highly important in the current study, we specifically note that we assigned to this lineage the more detailed designation “K1a1b1a.”

Web Resources

Accession numbers and URLs for data presented herein are as follows:

  1. Fluxus Engineering Web site, http://www.fluxus-engineering.com/
  2. GenBank, http://www.ncbi.nlm.nih.gov/Genbank/ (for the complete mtDNA sequences [accession numbers DQ301789–DQ301818])

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