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View Full Version : Mitochondrial DNA Polymorphism in Populations of Aboriginal Residents of the Far East



Ebizur
04-03-2021, 03:49 AM
cf. М. А. Gubina, L. А. Gyrgolkay, V. N. Babenko, et al., "Mitochondrial DNA Polymorphism in Populations of Aboriginal Residents of the Far East." GENETIKA, 2013, Vol. 49, № 7, p. 862876.

I do not recall having seen any commentary in English regarding this Russian paper that has been published eight years ago. It is helpful that the authors have clearly indicated the geographical origins of their samples.

Chukchi (Kanchalan & Ust-Belaya, Anadyrsky District, Chukotka Autonomous Okrug)
66/159 = 41.5% A total
43/159 = 27.0% A2a-16192
17/159 = 10.7% A2b1-16265
2/159 = 1.3% A2-16111
4/159 = 2.5% A+16093+16232

22/159 = 13.8% C total
9/159 = 5.7% C4b2a-16318T
1/159 = 0.6% C4b2-16124(x16318T)
1/159 = 0.6% C4b3-16291
10/159 = 6.3% C5-16288+16189+16261+16093
1/159 = 0.6% C5-16288+16189+16261

31/159 = 19.5% D total
4/159 = 2.5% pre-D? (Dx16362)
1/159 = 0.6% D4h(xD4h1-16174, D4h2-16278/16325, D4h3-16301/16342)
9/159 = 5.7% D2a'b-16129+16271
17/159 = 10.7% D4b total
1/159 = 0.6% D4b(xD4b1-16319)
16/159 = 10.1% D4b1-16319 total
1/159 = 0.6% D3
15/159 = 9.4% D4b1a2a1-16173(+16093)

2/159 = 1.3% F1b1b-16172 (definitely F1b-16232A-16249-16311)

36/159 = 22.6% G total
33/159 = 20.8% G1b-16017+16129
3/159 = 1.9% G1b-16017+16129+16093

1/159 = 0.6% H1q5-16188G

1/159 = 0.6% I1a-16172

Nanai (inhabitants of Khabarovsk Krai)
3/86 = 3.5% A total
2/86 = 2.3% A+16362+16248 (May comprise a clade with NQ6265(Tibetan) from Yang et al. as tabulated by Ian Logan.)
1/86 = 1.2% A+16362+16311+16196

8/86 = 9.3% C total
1/86 = 1.2% C1a-16325+16356+16298+16093
5/86 = 5.8% C4a total
1/86 = 1.2% C4a1-16093+16129
2/86 = 2.3% C4a1a4a-16150 (but 16093-)
1/86 = 1.2% C4a+16129+16319
1/86 = 1.2% C4a1b-16192 (but 16093-)
2/86 = 2.3% C5a 16261+ (but 16327-?)

24/86 = 27.9% D
3/86 = 3.5% D2c (D2xD2a'b-16271)
1/86 = 1.2% D4+16093+16232+16290 (D4o2a)
4/86 = D4b with no additional mutations
1/86 = 1.2% D4c+16311+16368 (probably D4c2a)
1/86 = 1.2% D4c+16287
4/86 = D4e+16291+16316 (probably D4e4)
1/86 = 1.2% D4e+16291 (probably D4e4)
1/86 = 1.2% D4e+16140+16274 (perhaps D4e5a; an Altai-Kizhi from Derenko's sample set has the same motif)
4/86 = D4h+16311 (probably D4h4a or D4h1c)
1/86 = 1.2% D4i with no additional mutations
3/86 = 3.5% D4j+16086 (probably D4j1a)

3/86 = 3.5% F total
1/86 = 1.2% F1a4a-16362(xF1a4a1-16294)
2/86 = 2.3% F1a1-16162+16172

5/86 = 5.8% G-16093+16207 (perhaps G1b1-A16207G, but this haplotype was not reported to exhibit the expected mutation at 16017.)

11/86 = 12.8% M
3/86 = 3.5% M8a2'3-16184
2/86 = 2.3% M10 (most likely M10a1a)
1/86 = 1.2% M7c1a2-16294
5/86 = 5.8% M other

15/86 = 17.4% Y
7/86 Y1a+16189
1/86 Y1a+16189+16304 (probably Y1a1a)
1/86 Y1a+16189+16304 (-16266) (probably Y1a1a)
1/86 Y1a+16189+16382
1/86 Y1a+16189+16316
2/86 Y1a+16189+16228A
2/86 Y1a+16189+16228A+16242+7933

10/86 = 11.6% H total
5/86 H-CRS 7028-
1/86 H+16162 (H1a)
1/86 H+16162+16209 (H1a1)
1/86 H+16211
1/86 H+16278
1/86 H+16311
1/86 = 1.2% I+16145+16391 (most likely I2a(xI2a3-A16074G))
2/86 = 2.3% pre-V
1/86 = 1.2% K
1/86 = 1.2% HV2а (most likely HV2a1+16247)
2/86 = 2.3% U5

Nivkh (from the village of Nogliki, Nogliksky District, Sakhalin Oblast)
3/17 = 17.6% D total
1/17 = 5.9% D4j4a+16148 (Also observed in a Nivkh from Val, a Buryat from South Siberia, and an Evenk or Even from Okhotsk. Without the mutation at the 16148 locus, D4j4a has been observed in an Ulchi and in an Okhotsk Evenk.)
1/17 = 5.9% D4e+16129+16274+16291+16311 (probably D4e5b)
1/17 = 5.9% D4e+16129+16274+16291 (probably D4e5b)
3/17 = 17.6% G total
2/17 = 11.8% G1b1-16207
1/17 = 5.9% G1b1a-16244
8/17 = 47.1% Y total
2/17 = 11.8% Y1a+16189+16316
1/17 = 5.9% Y1a+16189+16316+16380
1/17 = 5.9% Y1a+16189+16183C+16192+16292 (but missing 16266)
1/17 = 5.9% Y1a+16189+16140 (Same motif observed in HM776711(Ulchi) and HM776713(Ulchi) from the Ulchi sample of Volodko et al.)
1/17 = 5.9% Y1a+16189
1/17 = 5.9% Y1a+16189+16311 (but missing 16266)
1/17 = 5.9% Y1a+16189 (but missing 16266)
2/17 = 11.8% H total
1/17 = 5.9% H-CRS-7028
1/17 = 5.9% H+16051+16129+16189+16362
1/17 = 5.9% U5

Koryak (residents of Ossora village, Karaginsky District, Koryak Autonomous Okrug)
16/69 = 23.2% C total
13/69 = 18.8% C4b2a-16318T
1/69 = 1.4% C4b2-16124(x16318T)
1/69 = 1.4% C4a+16129
1/69 = 1.4% C5a 16261+ (but 16327-?)
2/69 = 2.9% D total
1/69 = 1.4% D4b1a2a1-16173(+16093)
1/69 = 1.4% D4b1b'd-16287
30/69 = 43.5% G
5/69 = 7.2% G1b1-16207
3/69 = 4.3% G1b-16017+16129+16093
1/69 = 1.4% G1b-16017+16129+16311
1/69 = 1.4% G1b-16017+16129+16311+16185
1/69 = 1.4% G1b-16017+16129+16293
19/69 = 27.5% G1b-16017+16129
15/69 = 21.7% Z1a
1/69 = 1.4% J
4/69 = 5.8% U5 total
1/69 = 1.4% U5a+16145
1/69 = 1.4% U5+16256 (typically associated with U5a)+16304 (typically associated with U5b3)
1/69 = 1.4% U5+16256 (typically associated with U5a), but missing 16192
1/69 = 1.4% U5*
1/69 = 1.4% U7b

Asiatic Eskimos (villages of Lorino, Chukotsky District, Chukotka Autonomous Okrug and New Chaplino and Sireniki, Providensky District, Chukotka Autonomous Okrug)
34/40 = 85.0% A total
26/40 = 65.0% A2a-16192
6/40 = 15.0% A2b1-16265
2/40 = 5.0% A2-16111
6/40 = 15.0% D total
4/40 = 10.0% D2a'b-16129+16271
1/40 = 2.5% D4b1a2a1-16173+16093
1/40 = 2.5% D4b1a2a1-16173+16093+16234

Canadian Eskimos (village of Igloolik, Canada)
44/44 = 100.0% A total
2/44 = 4.5% A2a1-16261
2/44 = 4.5% A2a3-16311
1/44 = 2.3% A2a-16192
17/44 = 38.6% A2b1-16265
1/44 = 2.3% A2b1-16265 (but missing 16319)
1/44 = 2.3% A2b1-16265+16212
2/44 = 4.5% A2-16111
1/44 = 2.3% A+16362+16265+16093+16173
2/44 = 4.5% A+16362+16093+16173
1/44 = 2.3% A+16362+16265+16192+16261
3/44 = 6.8% A+16362+16265+16192
1/44 = 2.3% A+16362+16265+16209
1/44 = 2.3% A+16362+16265+16278
9/44 = 20.5% A?(2b1?) +16265 +16319 +16362 (but missing A-16290 and A2-16111)

Yukaghir (village of Nelemnoye, Verkhnekolymsky District, Republic of Sakha)
9/66 = 13.6% B total
6/66 B4a4+16294
2/66 B4a4+16294+16182+16183
1/66 B4a4+16294+16223
41/66 = 62.1% C total
1/66 = 1.5% C+16129+16282 (but missing 16298 for M8)
1/66 = 1.5% C4a+16093+16129 (probably C4a1, but missing 16298 for M8)
1/66 = 1.5% C4a+16129
6/66 = 9.1% C4a+16357+16344+16171 (C4a2a1)
1/66 = 1.5% C4b+16291+16144+16311 (probably C4b3)
1/66 = 1.5% C4b+16291+16144 (probably C4b3)
1/66 = 1.5% C4b+16291+16282 (probably C4b3, but missing 16298 for M8)
8/66 = 12.1% C4b+16291 (probably C4b3)
9/66 = 13.6% C4b+16291+16311
8/66 = 12.1% C4b
1/66 = 1.5% C5+16261+16093+16189 (probably C5a2b)
1/66 = 1.5% C5a+16189
1/66 = 1.5% C5+16327 (probably C5(xC5a), but labeled as C5a in the paper's Table 2)
1/66 = 1.5% C5b+16148 (C5b1)
8/66 = 12.1% D total
1/66 = 1.5% D4+16093+16232+16290 (D4o2a)
1/66 = 1.5% D4+16232 (i.e. possibly D4o2a, but missing 16093 for D4o2 and 16290 for D4o)
1/66 = 1.5% D4b1a2a1-16173
2/66 = 3.0% D4e+16291 (probably D4e4 or D4e5)
1/66 = 1.5% D5a2a+16092
1/66 = 1.5% D5a2a+16092 but missing 16172 for D5a2 (D5a+16266+16092)
1/66 = 1.5% D5a+16266
3/66 = 4.5% F
1/66 = 1.5% Z1a? (but missing 16185 for Z)
2/66 = 3.0% H total
1/66 = 1.5% H-CRS 7028-
1/66 = 1.5% H+16189+16356 (H1b)
1/66 = 1.5% J+16230
1/66 = 1.5% W ? (+16145 +16295 +16304 but missing 16292)

Evenk (inhabitants of Tyndinsky District, Amur Oblast)
20/38 = 52.6% C total
9/38 = 23.7% C4a1-16093+16129
1/38 = 2.6% C4a1a4a-16150 (but missing 16093)
2/38 = 5.3% C4a2a1-16171
7/38 = 18.4% C4b
1/38 = 2.6% C5a-16261 (but missing 16327)
11/38 = 28.9% D total
2/38 = 5.3% D4b
1/38 = 2.6% D4c2a+16145
1/38 = 2.6% D4e+16291 (probably D4e4 or D4e5)
3/38 = 7.9% D4j+16263 (probably D4j4a)
1/38 = 2.6% D4j+16263+16148 (probably D4j4a+16148)
1/38 = 2.6% D4l+16274 (probably D4l2a2)
2/38 = 5.3% D5a2a+16092
2/38 = 5.3% M total
1/38 = 2.6% M7a2a3
1/38 = 2.6% M+16288+16344+16362 (perhaps some sort of pre-M61)
1/38 = 2.6% Z1a
1/38 = 2.6% H1a3
2/38 = 5.3% I (probably I5a-16148, but 16391 for N1a1b is missing)
1/38 = 2.6% J

Some comments:

*Western Eurasian mtDNA in this study's samples:
17/86 = 19.8% Nanai from Khabarovsk Krai
3/17 = 17.6% Nivkh from Nogliki
4/38 = 10.5% Evenk from Tyndinsky District
6/69 = 8.7% Koryak from Ossora
4/66 = 6.1% Yukaghir from Nelemnoye
2/159 = 1.3% Chukchi from Kanchalan and Ust-Belaya
0/40 Eskimo from Lorino, New Chaplino, and Sireniki, Russia
0/44 Eskimo from Igloolik, Canada

Jin et al. (2010) found Western Eurasian mtDNA (haplogroups H, T2, and U2e) in 13.7% (7/51) of a sample of Udegey who live along the tributaries of the Bikin River.

*This study's sample of Nivkh from Nogliki has 3/17 = 17.6% Western Eurasian mtDNA. It is also notable that their haplogroup D mtDNA is entirely different from the haplogroup D mtDNA of another sample of Nivkh from northern Sakhalin. (Nogliki is located within the northern half of Sakhalin Island, but it is about a third of the way south along the east coast of the island rather than being near the northern tip.) Duggan et al. (2013) tested a sample of "Nivkh ... collected in northern Sakhalin" (n=38) and found that 10 of them (26.3%) belonged to mtDNA haplogroup D4m2; these have all been classified as D4m2a by YFull.

*The second most common mtDNA haplogroup among the Yukaghir of Nelemnoye is a subclade of haplogroup B, which previously has been claimed not to exist among Palaeo-Siberians. However, the subclade of haplogroup B found among the Yukaghir, B4a4a, also has been observed among Yakut (e.g. 2/49 = 4.1% Vilyuy Yakut, 1/32 = 3.1% Northeast Yakut, and 1/88 = 1.1% Central Yakut of Duggan et al. 2013). Furthermore, B4a4a is a subclade of B4a, whereas American B2 is a subclade of B4b, so their MRCA is B4 (TMRCA 42947.5 [SD 5430.6] years according to Behar et al. 2012). Yakut-Yukaghir B4a4a may have fairly deep roots in Yakutia: YFull currently estimates the TMRCA of B4a4 to be 14100 (95% CI 10000 <-> 19400) ybp.