Table 1.
Nucleotide sequences change of mtDNA control region from aggregate cells
| Donor no. (age, y/sex) and polymorphism | Affected genes |
|---|---|
| Donor no. 1 (48/F) | |
| 73A > G | HV2, 7S |
| 150C > T | HV2, 7S, OH |
| 263A > G | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 16192C > T* | HV1, 7S |
| 16270C > T | HV1, 7S |
| Donor no. 2 (44/M) | |
| 73A > G | HV2, 7S |
| 146T > C | HV2, 7S, OH |
| 152T > C | HV2, 7S, OH |
| 195T > C | HV2, OH |
| 263A > G | HV2, OH |
| 8CT6C,* 9CT6C* | HV2, OH, CSB2 |
| 514-515delCA | NA |
| 16223C > T | HV1, 7S |
| 16278C > T | HV1, 7S |
| 16294C > T | HV1, 7S |
| 16390G > A | 7S |
| Donor no. 3 (36/M) | |
| 93A > G | HV2, 7S |
| 95A > C | HV2, 7S |
| 185G > A | HV2, 7S, OH |
| 189A > G | HV2, 7S, OH |
| 236T > C | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 247G > A | HV2, OH, TFB1 |
| 263A > G | HV2, OH |
| 514-515delCA | NA |
| 16093T > C | HV1 |
| 16129G > A | HV1, 7S |
| 16148C > T | HV1, 7S |
| 16168C > T | HV1, 7S, TAS |
| 16172T > C | HV1, 7S, TAS |
| 16187C > T* | HV1, 7S |
| 16188C > G* | HV1, 7S |
| 16189T > C* | HV1, 7S |
| 16223C > T | HV1, 7S |
| 16230A > G | HV1, 7S |
| 16278C > T | HV1, 7S |
| 16293A > G | HV1, 7S |
| 16311T > C | HV1, 7S |
| 16320C > T | HV1, 7S |
| Donor no. 4 (55/M) | |
| 73A > G | HV2, 7S |
| 263A > G | HV2, OH |
| 7CT6C* | HV2, OH, CSB2 |
| 514-515delCA | NA |
| 16126T > C | HV1, 7S |
| 16294C > T | HV1, 7S |
| 16296C > T | HV1, 7S |
| 16519T > C | 7S |
| Donor no. 5 (35/F) | |
| 73A > G | HV2, 7S |
| 150C > T | HV2, 7S, OH |
| 263A > G | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 517A > G† | NA |
| 16270C > T | HV1, 7S |
| 16292C > T | HV1, 7S |
| 16362T > C | HV1, 7S |
HV1 indicates hypervariable segment 1; HV2, hypervariable segment 2; 7S, 7S DNA; OH, H-strand origin; CSB2, conserved sequence block II; TAS, termination-association sequence; TFB1, mitochondrial transcription factor 1 binding site; NA, not applicable.
*
Homopolymeric C tracts at nucleotides 303 to 315 (for example, 7CT6C defined CCCCCCCTCCCCCC) and 16184 to 16193 in HV2 and HV1, respectively
†
New mtDNA polymorphisms (not listed in MitoMap database)