Table 3.
Variable sites in 72 individuals for DFFRY, DBY, and UTY1, defining 18 major haplotypes, not including polymorphic sites observed once
| Population |
DFFRY†
|
DBY†
|
UTY1†
|
|||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 2 | 2 | 3 | 5 | 5 | 6 | 8 | 9 | 1 | 1 | 2 | 2 | 2 | 2 | 2 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 3 | 3 | 3 | 3 | 3 | 3 | |||||||||||||||||||
| H | 1 | 5 | 2 | 4 | 9 | 3 | 0 | 4 | 4 | 4 | 9 | 0 | 6 | 6 | 7 | 8 | 1 | 1 | 6 | 7 | 0 | 9 | 3 | 3 | 3 | 3 | 3 | 1 | 1 | 2 | 2 | 3 | 3 | 3 | 3 | 3 | 3 | 3 | 6 | 9 | 2 | 6 | 6 | 6 | 6 | 6 | 7 | |||||
| a | 2 | 4 | 2 | 3 | 8 | 0 | 8 | 2 | 8 | 7 | 0 | 5 | 1 | 7 | 9 | 8 | 9 | 7 | 0 | 4 | 9 | 7 | 1 | 1 | 1 | 1 | 1 | 0 | 5 | 2 | 2 | 3 | 3 | 3 | 3 | 8 | 8 | 8 | 1 | 7 | 3 | 7 | 7 | 7 | 7 | 7 | 8 | |||||
| p | 7 | 4 | 9 | 7 | 1 | 7 | 7 | 9 | 4 | 8 | 3 | 0 | 5 | 7 | 9 | 6 | 4 | 1 | 1 | 1 | 1 | 5 | 9 | 5 | 1 | 4 | 2 | 2 | 2 | 2 | 2 | 1 | 8 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 5 | 1 | 5 | 8 | 8 | 9 | 9 | 9 | 4 | |
| l | 7 | + | 5 | + | + | 7 | - | 2 | 2 | - | - | + | 5 | 7 | 1 | - | + | - | - | - | - | + | - | - | - | + | + | + | + | + | + | 4 | - | + | + | + | + | + | + | + | - | - | + | - | 8 | + | + | - | - | - | + | |
| o | U | 7 | * | 1 | 9 | 4 | * | 1 | 1 | 9 | * | 3 | 4 | 2 | 2 | 2 | 2 | 1 | 3 | 5 | 1 | 3 | 3 | 4 | 8 | 1 | 1 | 4 | 3 | 3 | 1 | 5 | 6 | 6 | 1 | 2 | 7 | 8 | 6 | 5 | 7 | 2 | 2 | 3 | 1 | |||||||
| t | T | 3 | 8 | 6 | 0 | 0 | 1 | 8 | 5 | 2 | 2 | 4 | 2 | 2 | 2 | 3 | 8 | 9 | 6 | 1 | 0 | 1 | 6 | 6 | 8 | 7 | 2 | 2 | 6 | 2 | 8 | 8 | 0 | 3 | 6 | 8 | 9 | 2 | 6 | |||||||||||||
| y | R | 1 | 6 | 9 | 1 | 7 | 2 | 0 | 0 | 0 | 0 | 9 | 9 | 3 | 2 | 7 | 9 | 1 | 2 | 2 | 7 | 8 | 1 | 4 | 9 | 5 | ||||||||||||||||||||||||||
| p | 5 | 2 | 7 | 9 | 0 | 4 | 1 | 8 | 1 | 1 | 8 | |||||||||||||||||||||||||||||||||||||||||
| e | 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Orangutan | - | - | C | - | - | T | - | A | G | T | - | - | - | G | T | - | T | C | O | T | G | T | T | - | G | - | - | - | - | A | G | C | A | - | - | T | - | - | - | - | - | - | 5bp | - | T | G | T | G | - | - | - | |
| Gorilla | - | - | C | - | - | - | - | - | G | T | - | - | - | - | T | - | - | - | - | - | - | - | - | - | - | T | - | - | - | - | C | - | - | - | T | - | - | - | - | G | - | - | - | - | - | T | - | - | - | C | ||
| Chimpanzee | T | C | C | - | T | T | C | A | G | T | - | - | C | G | T | A | T | C | O | T | A | T | T | A | G | T | C | C | O | A | G | C | A | A | A | T | G | T | T | G | G | A | 5bp | A | T | G | T | G | T | A | C | |
| Human, ancestral | T | C | C | A | T | T | C | A | G | C | G | O | C | G | T | A | T | C | O | T | A | T | T | A | G | T | C | C | O | A | G | C | A | A | A | T | G | T | T | G | G | A | 5bp | A | T | G | T | G | T | A | C | |
| AF09 Khoisan | 1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | C | . | . | . | . | . | T | . | . | . | . | . | . | . | . | . | . |
| AF15 Falasha, Ethiopia | 1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | C | G | . |
| AF14 Nuba | 2 | . | . | . | . | . | C | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
| AF02 Biaka Pygmy | 3 | . | . | . | . | . | C | T | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| AF03 Biaka Pygmy | 3 | . | . | . | . | . | C | T | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . |
| AF05 Mbuti Zaire Pygmy | 3 | C | . | . | . | . | C | T | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| AF07 Lissongo | 3 | . | . | . | . | . | C | T | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| AF04 Mbuti Zaire Pygmy | 4 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| AS37 Bedouine | 4 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| AF01 Biaka Pygmy | 5 | . | T | . | . | C | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| AF06 Lissongo | 5 | . | T | . | . | C | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| AF16 Nuba‡ | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| AS06 Japanese | 6 | . | T | T | . | . | . | . | . | . | . | . | . | . | . | C | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| AS33 Hmong, Laos | 6 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | C | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| AS18 Sindhi | 7 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | C | . | . | . | . | . | . |
| AS38 Bedouine | 7 | . | T | . | . | . | . | . | C | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | C | . | . | . | . | . | . |
| AS07 Japanese | 8 | . | T | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . | . | . |
| OC02 New Guinean | 8 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | A | . | . | . | . | . |
| OC07 Australian Aborigine | 8 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | A | . | . | . | . | . |
| AS28, AS30, AM06§ | 9 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | G | . | . | . | . |
| AS02 and others¶ | 10 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| AM02 Surul | 10 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| AM04 Mayan | 10 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | C | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| AS11 Brushaski | 10 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | C | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| AS12 Pathan | 10 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| AS15 Brahui | 10 | . | T | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | 4bp | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| EU03 and others‖ | 11 | . | T | . | C | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| AS16, AS25** | 12 | . | T | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| OC01 New Guinean | 13 | . | T | . | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| OC03, OC04 Melanessian | 13 | . | T | . | . | . | . | . | . | . | . | O | . | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| AS14, AS29, AS35, EU08‡‡ | 14 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| AS40 Yemenite | 15 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | T |
| EU02 Italian | 15 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | T |
| AS01 and others†† | 16 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | O | G | . | . | . | . | . | . | . |
| AS09 Han Chinese | 16 | . | T | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | C | . | . | . | G | O | G | . | . | . | . | . | . | . |
| EU04 and others§§ | 17 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | C | . | . | . | . | . | . | . | . | . | . | . | C | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| EU13 Italian‡ | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | . | . | . | . | C | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| AS10, AS24¶¶ | 18 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | C | . | . | . | T | . | . | . | . | . | . | . | C | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
| AS39 Arab, Central Asia | 18 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | C | . | . | . | T | . | . | . | . | C | . | . | C | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . |
AF, Africa; AS, Asia; EU, Europe; AM, America; OC, Oceania; -, sequence not available.
Nonsynonymous substitution.
Variant nucleotide positions are defined with respect to the cDNA sequences in GenBank for DFFRY (AF000986), DBY (AF000985), and UTY1 (AF000996).
Screened for UTY1 only.
AS28, Japanese; AS30, Hazara; AM06, Navajo Indian.
AS02, Cambodian; AS17, Sindhi; AS23, Druze; AS32, Tamil; AS34, 36, Bedouine; EU12, Ashkenazi; AM01, Karitiana; AM03, Colombian Indian.
EU03, German; EU05, 06, Basque; EU09, Finn; OC06, Australian Aborigine; AM05, Muskogee.
AS16, Sindhi; AS25, Makrani.
AS14, Baloochi; AS29, Hazara; AS35; Sepharadim; EU08, Ashkenazi.
AS01, Cambodian; AS03, Atayal; AS04, Ami; AS05, 27; Japanese; AS08, 26, Han Chinese; AS13, Pathan.
EU04, Italian; EU07, Basque; EU10, Finn; EU11, Georgia; AS31, Haraza; OC05, Australian Aborigine.
AS10, Brushaski; AS24, Makrani.