haplotype populations a b rflp hvs-i data d vuf fin est...
TRANSCRIPT
Appendix S1. Haplotypes of 479 haplogroup H mtDNAs of various geographical origins. Haplotype Populationsa
Hgb RFLPc,d HVS-I datad
VU
F Fi
n E
st
Slk
Fre
Blk
T
ur
NE
A
sia
ESl
av
Tot
al
H1* -3007Bsh1236I 39-300 1 1H1* -3007Bsh1236I 86 1 1 2H1* -3007Bsh1236I 93 1 1 1 3H1* -3007Bsh1236I 114-189 1 1H1* -3007Bsh1236I 129-189-362 1 1H1* -3007Bsh1236I 148 1 1H1* +73Alw44I,-3007Bsh1236I 172 1 1H1* -3007Bsh1236I 174 2 2H1* -3007Bsh1236I 174-311 2 2H1* -3007Bsh1236I 189 2 1 2 5H1* -3007Bsh1236I 189-320-291 1 1H1* -3007Bsh1236I,-13757AciI,
C13760T 189-344 1 1H1* -3007Bsh1236I 193 1 1 2H1* -3007Bsh1236I 218 1 1H1* -3007Bsh1236I 250 1 1H1* -3007Bsh1236I 257 1 1H1* -3007Bsh1236I 261 1 1H1* -3007Bsh1236I 270 1 1H1* -3007Bsh1236I 291 1 1H1* -3007Bsh1236I 294 1 1H1* -3007Bsh1236I 299 1 1H1* -3007Bsh1236I 301 1 1 2H1* -3007Bsh1236I 304 1 1H1* -3007Bsh1236I 311 2 1 3H1* -3007Bsh1236I 362 1 1H1* -3007Bsh1236I,-5003DdeI,
A5005G CRS 1 1H1* -3007Bsh1236I CRS 8 1 3 1 7 1 2 2 4 29H1a +73Alw44I,-3007Bsh1236I 51-75-162-172 2 2H1a +73Alw44I,-3007Bsh1236I 51-162 1 1H1a +73Alw44I,-3007Bsh1236I 162 4 2 3 2 1 12H1a +73Alw44I,-3007Bsh1236I 162-209 1 1 2H1a +73Alw44I,-3007Bsh1236I 162-266 3 3H1a +73Alw44I,-3007Bsh1236I 162-311 1 1H1b -3007Bsh1236I 80-189-356 1 1H1b -3007Bsh1236I 169-189-356 1 1H1b -3007Bsh1236I 129-189-355-
356-362 1 1
H1b -3007Bsh1236I 189-261-356 1 1H1b -3007Bsh1236I 189-356 3 2 1 1 7H1b -3007Bsh1236I 189-356-362 1 1H1f -3007Bsh1236I,
+4449MboI,+9066Eco32I93-189 5 1 6
Haplotype Populationsa
Hgb RFLPc,d HVS-I datad
VU
F Fi
n E
st
Slk
Fre
Blk
T
ur
NE
A
sia
ESl
av
Tot
al
H1f -3007Bsh1236I, +4449MboI,+9066Eco32I
93-183d-189 3 3
H1f -3007Bsh1236I, +4449MboI,+9066Eco32I
189 1 1
H2* +4769AluI 274 1 1H2* +4769AluI 291-235 1 1H2* +4769AluI 291 1 1H2* +4769AluI 311 1 1H2* +4769AluI CRS 1 1 1 3H2* +73Alw44I,+4769AluI CRS 1 1H2 G951A,-4769AluI,A4769G CRS 1 1H2a -951MboI, +4769AluI 93 1 1H2a -951MboI, +4769AluI CRS 1 1H2a1 -951MboI, +4769AluI 79-311-354 1 1H2a1 -951MboI, +4769AluI 93-193-354 1 1H2a1 -951MboI, +4769AluI 167-354 1 1H2a1 -951MboI, +4769AluI 178-354 1 1H2a1 -951MboI, +4769AluI 193-354 1 3 4H2a1 -951MboI, +4769AluI 291-354 1 1H2a1 -951MboI, +4769AluI 297-354 1 1H2a1 -951MboI, +4769AluI 304-354 1 1H2a1 -951MboI, +4769AluI 354 1 1 2 3 4 11H3 T6776C 92-243 1 1H3 T6776C 176-311 1 1H3 T6776C 192 1 1H3 T6776C 249 1 1H3 T6776C 298 1 1 2H3 T6776C 298-354 1 1H3 T6776C 301 1 1H3 T6776C 311 2 2 1 5H3 T6776C,G9380A 311 1 1H3 T6776C CRS 1 4 1 1 7H4 T5003C 92 1 1H4 T5003C 93 1 1H4 T5003C 185 1 1H4 +73Alw44I,T5003C 240 1 1H4 +73Alw44I,T5003C CRS 1 1H4 T5003C CRS 2 1 1 4H5* C456T 86-192-304 1 1H5* C456T 93-234-304 1 1H5* C456T 124-304 1 1H5* C456T 172-304 1 1H5* C456T 192-304 1 1H5* C456T 271-304 1 1H5* C456T 294-298-304 1 1H5* C456T 294-304 1 1
Haplotype Populationsa
Hgb RFLPc,d HVS-I datad
VU
F Fi
n E
st
Slk
Fre
Blk
T
ur
NE
A
sia
ESl
av
Tot
al
H5* C456T 304 1 1 1 3 1 1 8H5* C456T 304-311 1 1H5* C456T 304-362 1 1H5a C456T,+4332Eco47I 166-304 1 1H5a C456T,+4332Eco47I 166-304-344 1 1H5a C456T,+4332Eco47I 188-192-266-304 1 1H5a C456T,+4332Eco47I 189-304 1 1H5a C456T,+4332Eco47I 304 1 1 1 1 3 1 1 9H5a C456T,+4332Eco47I 304-311 1 1 2H6* T239C,+16478DdeI 362 1 1H6a T239C,G3915A,+16478DdeI 362 1 1H6a1 T239C,G3915A,-9380Hin6I,
+16478DdeI92-245-362 5 5
H6a1 T239C,G3915A,-9380Hin6I, +16478DdeI
111-362 1 1
H6a1 T239C,G3915A,-9380Hin6I, +16478DdeI
189-243-342-362
1 1
H6a1 +73Alw44I,T239C,G3915A, -9380Hin6I,+16478DdeI
362 1 1
H6a1 T239C,G3915A,-9380Hin6I, +16478DdeI
362 1 2 2 3 2 1 11
H6a1 T239C,G3915A,G9380A 209-362 1 1H6a1 T239C,G3915A,G9380A 362 1 2 1 4H6b T239C 300-325-362 1 1H6b T239C,+16478DdeI 167-300-325-
362 2 2
H6b T239C,+16478DdeI 300-362 1 1H7 +4793BsuRI 93-265 1 1H7 +4793BsuRI 126-261 1 1H7 +4793BsuRI 189 1 1H7 +4793BsuRI 261 1 1H7 +4793BsuRI 261-325 1 1H7 +4793BsuRI 265 1 1 2H7 +4793BsuRI 304 1 1H7 +4793BsuRI 311 1 1H7 +4793BsuRI 327 1 1H7 +4793BsuRI CRS 1 3 1 1 2 8H8 +13100MspI 129-288 3 3H8 +13100MspI 93-288-362 1 1H8 +13100MspI 288-362 1 1 3 1 6H11a -13757AciI,-8446SspI 75-92-169-293-
311 1 1
H11a -13757AciI,-8446SspI 92-169-293-311 1 1H11a -13757AciI,-8446SspI 92-293-301-311 1 1H11a -13757AciI,-8446SspI 92-293-311 1 1H11a -13757AciI,-8446SspI 209-278-293- 1 1
Haplotype Populationsa
Hgb RFLPc,d HVS-I datad
VU
F Fi
n E
st
Slk
Fre
Blk
T
ur
NE
A
sia
ESl
av
Tot
al
311 H11a -13757AciI,-8446SspI 224-278-293-
311 1 1
H11a -13757AciI,-8446SspI 249-293-311 1 1H11a -13757AciI,-8446SspI 278-293-311 3 1 1 1 6H11a -13757AciI,-8446SspI 278-311 1 1H11a -13757AciI,-8446SspI 293-311 1 1 2H11a -13757AciI,-8446SspI 311 1 1H11a C456T,-13757AciI,-8446SspI 311 1 1H11a -13757AciI,-8446SspI 311-357 1 1H* 51-93-312 1 1H* 67 1 1H* 69-93-111CA-
222-278 1 1
H* 75-243-311 1 1H* 83-221 1 1H* 85-129 1 1H* 92-176 1 1H* 93 2 1 1 4H* 93-129 1 1H* 93-129-184 1 1H* 93-129-221 1 1H* 93-129-316 1 1 2H* +73Alw44I 93-162 1 1H* 93-184-311 1 1H* 93-228-291 1 1H* 93-265AT 1 1H* 93-272 1 1H* 94-349 1 1H* 111-209-218 1 1H* 114-295 1 1H* 126-189-295 1 1H* 129 1 1 2H* 129-184-221 1 1H* 129-184-249 1 1H* 129-239-316 1 1H* 136 1 1H* 142-311 1 1H* 142-325 1 1H* 145 1 1H* 145-184-311 1 1H* 148-256-319 1 1H* 153-209-255 1 1H* 168 1 1H* -8446SspI,A8449G 168 1 1H* 168-269 1 1
Haplotype Populationsa
Hgb RFLPc,d HVS-I datad
VU
F Fi
n E
st
Slk
Fre
Blk
T
ur
NE
A
sia
ESl
av
Tot
al
H* 168-309-325 1 1H* 169 3 3H* 171-189 1 1H* 172 1 1H* +73Alw44I 172 1 1H* 181-218 1 1H* 184 1 1H* 187-189-295 1 1H* 188-189 1 1H* 188-249 1 1H* 189 1 1 2 1 1 6H* 189-218-328CA 2 2H* 189-240-295-
354 1 1
H* 189-304 1 1H* 189-311 1 1H* 192-325 1 1H* 209-261 3 3H* +73Alw44I 212 1 1H* +73Alw44I 212-299-362 1 1H* 221 1 1H* 222 1 1H* 223 1 1 2H* 234 1 1H* 239 1 1H* 243-265AC-311 1 1H* 256-311-352 1 1H* 256-352 1 1 2H* 259-263 1 1H* 261-311 1 1H* 278 1 1 2H* 278-311 1 1H* 286-366 1 1H* 287 2 1 3H* 290-362 1 1H* 291 2 1 1 4H* 293 1 1 2H* 293AC 1 1H* 294-304 1 1 2H* 299 2 2H* 302 1 1H* 304 1 1H* 311 5 1 2 2 2 3 2 1 18H* 319 1 1H* 324 1 1 2H* 325 1 1
Haplotype Populationsa
Hgb RFLPc,d HVS-I datad
VU
F Fi
n E
st
Slk
Fre
Blk
T
ur
NE
A
sia
ESl
av
Tot
al
H* 354 2 2H* 362 1 1 2H* 368 1 1H* +73Alw44I CRS 1 1 1 3H* CRS 9 2 8 5 7 6 7 7 4 4 59H* C456T CRS 1 1H* C456T 70 1 1 1 3Total number of individuals 50 31 50 50 50 50 50 50 48 50479
a Abbreviations for the populations are as follows: VUF – Finno-Ugric speakers of the Volga-Ural region, Fin – Finns, Est – Estonians, Slk – Slovaks, Fre – French, Blk – Balkan peoples, Tur – Turks, NE – Near Easterners, Asia – Asian peoples, ESlav – Eastern Slavs. 31 Finnish sequences are taken from Finnilä et al. (2001). The HVS-I sequences of the Finno-Ugric speakers of the Volga-Ural region have been published by Bermisheva et al. (2002). See details of the studied populations in the Materials and Methods section. b Hg – sub-haplogroup assignment of a haplotype. c RFLP sites are numbered from the first position of a recognition sequence. The following restriction sites were checked for all the samples: 73Alw44I, 951MboI, 3007Bsh1236I, 4332Eco47I, 4449MboI, 4769AluI, 4793BsuRI, 5003DdeI, 8446SspI, 9066Eco32I, 9380Hin6I, 13100MspI, 13757AciI and 16478DdeI. A “+” indicates the presence of a restriction site, a “-” the absence. Exact nucleotide has been shown only if it has been determined by sequencing or by allele-specific PCR. In front of the position number CRS nucleotide is shown. d HVS-I sequence data is for positions 16024-16383. Mutations are transitions unless further specified. Mutated nucleotide positions are relative to the Cambridge Reference Sequence (CRS) minus 16000.
Appendix S2. Haplotypes of 115 haplogroup H mtDNAs of Russian and Ukrainian origin.
Haplotype
HVS-I sequence datac Coding region and HVS-II markersd
Samplea Hgb
3007Bsh1236I
50
03Dde
I 47
93BsuRI
45
6 43
32Eco47I
67
76
9380Hin6I
13
100Msp
I 84
46SspI
13
757Aci
I 47
69Alu
I 95
1Mbo
I 73Alw44I
23
9 16
478Dde
I
NN34 H1* 42-288 0 1 0 1 0 1 1 0 OR52 H1* 42-288-290-311 0 1 0 1 0 1 1 0 T NN62 H1* 80-114-189-215 0 0 0 NN45 H1* 93 0 0 0 UKR15 H1* 93-325 0 1 0 0 1 0 1 1 1 NN36 H1* 114-138 0 0 0 I-11 H1* 174 0 0 0 II-46 H1* 189 0 0 0 OR79 H1* 249 0 0 0 T OR56 H1* 256 0 0 0 T OR35 H1* 261 0 1 0 0 0 1 1 0 T 36 H1* 325 0 1 0 0 1 0 1 1 0 22 H1* CRS 0 0 0 58 H1* CRS 0 0 0 I-6 H1* CRS 0 0 0 II-4 H1* CRS 0 0 0 II-55 H1* CRS 0 0 0 NN15 H1* CRS 0 0 0 NN3 H1* CRS 0 0 0 NN7 H1* CRS 0 0 0 NN70 H1* CRS 0 0 0 NN74 H1* CRS 0 0 0 NN75 H1* CRS 0 0 0 OR3 H1* CRS 0 0 0 T OR51 H1* CRS 0 0 0 T OR59 H1* CRS 0 0 0 T OR70 H1* CRS 0 0 0 T UKR106 H1* CRS 0 0 0 OR25 H1a 51-162-259 0 0 1 T NN54 H1a 162 0 0 1 OR75 H1a 162-258AC 0 0 1 T
NN13 H1b 80-189-248-270-356 0 0 0
OR36 H1b 80-189-356 0 0 0 T 64 H1b 189-356 0 0 0 0 NN68 H1b 189-356 0 0 0
Haplotype
HVS-I sequence datac Coding region and HVS-II markersd
Samplea Hgb
3007Bsh1236I
50
03Dde
I 47
93BsuRI
45
6 43
32Eco47I
67
76
9380Hin6I
13
100Msp
I 84
46SspI
13
757Aci
I 47
69Alu
I 95
1Mbo
I 73Alw44I
23
9 16
478Dde
I
I-17 H1b 189-356-362 0 0 0 OR63 H1b 189-356-362 0 0 0 T OR30 H1b 189-318-356 0 0 0 T 54 H2* 218 1 0 1 1 0 OR6 H2* 270 1 0 0 1 1 0 T II-18 H2* CRS 1 0 1 1 0 NN32 H2* CRS 1 0 1 1 0 UKR103 H2a1 93-354 1 0 1 0 0 NN60 H2a1 129-193-354 1 0 1 0 0 II-16 H2a1 354 1 0 1 0 0 NN53 H2a1 354 1 0 1 0 0 NN67 H2a1 354 1 0 1 0 0 II-6 H3 278-311 1 1 0 C 0 C 1 0 1 1 0 0 NN76 H3 311 1 1 0 C 0 C 1 1 1 0 0 II-28 H3 CRS 1 1 0 C 0 C 1 0 1 1 0 0 NN11 H3 CRS 1 1 0 C 0 C 1 1 1 0 0 NN50 H4 93-145 1 0 0 0 1 0 1 1 0 0 OR58 H4 231 C/T 1 0 0 0 1 0 1 1 0 0 T 67 H4 CRS 1 0 0 0 1 0 1 1 0 0 I-14 H5* 304 1 0 T 0 T 0 29 H5a 93-192-304-311 1 0 1 0 OR17 H5a 213-304 1 1 0 T I-5 H5a 303-304 1 1 0 OR54 H5a 304 1 0 T 31 H5a 304-311 1 1 0 NN33 H5a 304-311 1 1 0 II-20 H6a1 362 1 0 0 0 1NN35 H6a1 362 1 0 0 0 1OR77 H6a1 362 1 0 0 0 C 1I-10 H6a1 362 1 0 0 0 0NN47 H6a1 362 1 0 0 0 0NN66 H6a1 362 1 0 0 0 0UKR83 H6a1 362 1 0 0 0 0UKR88 H6a1 189-362 1 0 0 0 0OR43 H6b 300-325-362 1 1 C 0 T 1 0 C 0OR42 H7 265 1 1 0 0 T UKR93 H7 CRS 1 1 0 0 0
OR28 H11a 92-140-189-265-293-311 1 0 0 0 0 T
Haplotype
HVS-I sequence datac Coding region and HVS-II markersd
Samplea Hgb
3007Bsh1236I
50
03Dde
I 47
93BsuRI
45
6 43
32Eco47I
67
76
9380Hin6I
13
100Msp
I 84
46SspI
13
757Aci
I 47
69Alu
I 95
1Mbo
I 73Alw44I
23
9 16
478Dde
I
II-35 H11a 209-234-278-311 1 0 0 0 0
II-54 H11a 224-278-293-311 1 0 0 0 0
OR13 H11a 278-293-311 1 0 0 0 0 T OR16 H11a 278-293-311 1 0 0 0 0 T OR8 H11a 278-293-311 1 0 0 0 0 T UKR41 H11a 278-293-311 1 0 0 0 0 I-3 H11a 293-311 1 0 0 0 0 74 H* 93 1 1 0 C 0 T 1 0 1 1 0 0 OR29 H* 93 1 1 0 0 1 0 1 1 0 0 T UKR100 H* 129 1 1 0 C 0 1 0 1 1 0 0 75 H* 168 1 1 0 C 0 1 1 1 0 0 NN19 H* 192 1 1 0 C 0 T 1 0 1 1 0 0 OR12 H* 274 1 0 0 T 1 0 1 1 0 0 T 80 H* 278 1 1 0 C 0 T 1 0 1 1 0 0 NN6 H* 278 1 1 0 C 0 T 1 0 1 1 0 0 II-31 H* 291 1 1 0 C 0 T 1 0 1 1 0 0 II-11 H* 295 1 1 0 C 0 T 1 0 1 1 0 0 NN55 H* 311 1 1 0 0 T 1 1 1 0 0 OR34 H* 311 1 1 0 C 0 1 1 1 0 0 T 61 H* 147-169-189 1 1 0 C 0 T 1 0 1 0 0 OR53 H* 148-256-319 1 1 0 0 1 0 1 1 0 0 T 65 H* 189-274 1 1 0 C 0 T 1 0 1 1 0 0 0 4 H* 189-311 1 1 0 C 0 T 1 0 1 1 0 0 II-1 H* 256-352 1 1 0 C 0 T 1 0 1 1 0 0 OR45 H* 256-352 1 1 0 C 0 T 1 0 1 1 0 0 T 69 H* 278 1 1 0 C 0 T 1 0 1 1 0 0 OR47 H* 93-129-189-316 1 1 0 C 0 T 1 0 1 1 0 0 T UKR85 H* 93-271 1 1 0 C 0 T 1 0 1 1 0 0 76 H* CRS 1 1 0 C 0 T 1 0 1 1 0 0 I-4 H* CRS 1 1 0 C 0 T 1 0 1 1 0 0 II-13 H* CRS 1 1 0 0 T 1 0 1 1 0 0 II-17 H* CRS 1 1 0 C 0 T 1 0 1 1 0 0 II-39 H* CRS 1 1 0 C 0 T 1 0 1 1 0 0 NN1 H* CRS 1 1 0 C 0 T 1 0 1 1 0 0 NN12 H* CRS 1 1 0 C 0 T 1 0 1 1 0 0 NN48 H* CRS 1 1 0 C 0 T 1 0 1 1 0 0 NN65 H* CRS 1 1 0 C 0 T 1 0 1 1 0 0
Haplotype
HVS-I sequence datac Coding region and HVS-II markersd
Samplea Hgb
3007Bsh1236I
50
03Dde
I 47
93BsuRI
45
6 43
32Eco47I
67
76
9380Hin6I
13
100Msp
I 84
46SspI
13
757Aci
I 47
69Alu
I 95
1Mbo
I 73Alw44I
23
9 16
478Dde
I
OR22 H* CRS 1 1 0 0 T 1 0 1 1 0 0 T OR55 H* CRS 1 1 0 0 1 1 1 0 0 T 0OR65 H* CRS 1 1 0 C 0 T 1 0 1 1 0 0 T UKR107 H* CRS 1 1 0 C 0 T 1 0 1 1 0 0 UKR60 H* CRS 1 1 0 C 0 T 1 0 1 1 0 0 a The HVS-I and HVS-II sequences of the Russians from the Orel region (designated in the table as OR) have been published by Malyarchuk et al. (2002), and the HVS-I sequences of Russians (plain numbers) and Ukrainians (UKR) from Magadan have been published by Malyarchuk and Derenko (2001). The Ukrainian samples from Magadan, UKR93, UKR100, UKR103, UKR106, UKR107, as well as the data on Russian samples from Nizhniy Novgorod (NN) and Belgorod (I or II) regions have not been published before. b Hg – haplogroup assignment of the sample. c Mutated nucleotide positions are relative to the Cambridge Reference Sequence (CRS) minus 16000. Nucleotide positions refer to transitions unless further specified. C/T denotes heteroplasmy. d “1” – restriction site intact, “0” –site absent. C and T refer to corresponding nucleotides.
Table S1. Coalescence ages of haplogroup H sub-clusters.
Clade, motif, (population), clocka N rhob sigmac dated SDe
H1-H11 hvs 364 1.38 0.26 27800 5300 H1-H11 coding 199 3.72 0.55 19100 2800 all H coding 265 3.39 0.42 17400 2100 H* coding 66 2.50 0.22 12800 1200 all H Asia hvs 48 1.71 0.42 34500 2200 all H Asia wo Altay hvs 31 1.26 0.27 25400 1400 all H Altay hvs 17 2.53 0.89 51000 4600 all H Near East hvs 50 1.36 0.26 27400 1400 H1 3010 coding 90 2.04 0.25 10500 1300 H1 3010 hvs 149 1.18 0.35 23800 7100 H1* 3010, H1 excl H1a, b, f hvs 96 0.66 0.15 13200 3000 H1a 00073-3010-16162 hvs 24 0.38 0.18 7600 3700 H1b 3010-16189-16356 hvs 19 0.68 0.26 13800 5300 H2 4769 coding 22 2.86 0.70 14700 3600 H2* 4769, H2 excl H2a hvs 12 0.58 0.25 11800 5000 H2a 4796-951 coding 6 1.17 0.44 6000 2300 H2a1 951-4769-16354 hvs 27 0.56 0.25 11200 5000 H2b 750-4769 coding 10 2.20 0.80 11300 4100 H3 6776 coding 31 2.16 0.32 11100 1600 H3 6776 hvs 25 0.80 0.40 16100 8000 H4 3992-4024-5004-9123-14365-14582 coding 10 3.80 1.19 19500 6100 H4 5004 hvs 12 0.58 0.25 11800 5000 H4a 3992-4024-5004-8269-9123-14365-14582 coding 8 3.13 0.93 16100 4800 H5* 456-16304 hvs 19 0.63 0.21 12700 4200 H5a 4336 coding 16 2.44 0.83 12500 4300 H5a 456-4336-16304 hvs 21 0.76 0.29 15400 5900 H5a1 4336-15833 coding 12 1.42 0.40 7300 2100 H6 239-16362 hvs 39 0.69 0.26 14000 5200 H6 Asia hvs 10 2.00 0.81 40400 16400 H6a 3915 coding 10 3.60 1.06 18500 5400 H6a1 3915-9380 coding 6 3.33 0.97 17100 5000 H6a1 239-3915-9380-16362-16482 hvs 32 0.50 0.23 10100 4700 H7 4793 coding 5 2.40 0.75 12300 3800 H7 4793 hvs 20 0.70 0.28 14100 5700 H8 13101AC-16288 hvs 10 0.70 0.44 14100 8800 H9 6869-9804 coding 4 0.75 0.43 3900 2200 H10 14470TA coding 4 2.25 0.75 11600 3900 H11a 8448-13759 coding 6 3.83 1.17 19700 6000 H11a 8448-13759-16311 hvs 27 2.11 0.87 42600 17500 a Mutation motifs defining analyzed clusters are given as transitional differences from the root haplotype of haplogroup H, or a transversional change has been shown. Two molecular clocks – for the non-coding (“hvs”) and coding regions (“coding”) of mtDNA – have been used. b An average transitional distance from the root haplotype (rho) was calculated. c Sigma – Standard
deviation of rho is as in Saillard et al. (2000). d Coalescence time has been calculated taking one transitional step between nucleotide positions 16090 – 16365 (“hvs”) equal to 20180 years (Forster et al. 1996), and one base substitution between nucleotide positions 577 – 16023 (“coding”) equal to 5138 years (Mishmar et al. 2003). e Standard deviation of the date estimate. Note that the 115 Eastern Slav samples analyzed hierarchically and not shown in Figure 3 have been included in the coalescence analysis. Note also that the coding sequence data is derived mainly from European populations.
Tabl
e S2
. Fre
quen
cies
of h
aplo
grou
p H
1b in
var
ious
pop
ulat
ions
. R
egio
n / P
opul
atio
n a
Sam
ple
size
N
(H)b
H1b
c H
1b
(%)d
H1b
(%
H)eR
efer
ence
sf
Tuni
sian
s 56
3 15
1 -
- -
this
stud
y A
rabs
, Alg
eria
62
7
- -
- th
is st
udy
Kab
yles
65
19
-
- -
this
stud
y Li
byan
s 10
1 18
-
- -
this
stud
y *
Alg
eria
ns
47
0 -
- -
Plaz
a et
al.,
200
3 *
Ara
bs, M
oroc
co
336
76
- -
- Pl
aza
et a
l., 2
003;
this
stud
y *
Saha
raw
i 56
0
- -
- Pl
aza
et a
l., 2
003
Mor
occa
n no
n-B
erbe
rs
32
11
- -
- R
ando
et a
l., 1
998
Wes
t-Sah
aran
25
5
- -
- R
ando
et a
l., 1
998
Mau
ritan
ians
30
5
- -
- R
ando
et a
l., 1
998
Wol
of, S
eneg
ales
e 48
0
- -
- R
ando
et a
l., 1
998
Sere
r, Se
nega
lese
23
0
- -
- R
ando
et a
l., 1
998
Sene
gale
se
50
2 -
- -
Ran
do e
t al.,
199
8 *
Moz
abite
s, A
lger
ia, G
hard
aia
85
20
- -
- C
orte
-Rea
l et a
l., 1
996
* B
erbe
rs, M
oroc
co
344
93
- -
- Pi
nto
et a
l., 1
996;
Ran
do e
t al.,
199
8; B
rake
z et
al.,
200
1; P
laza
et a
l., 2
003;
this
stud
y N
orth
Wes
t Afr
ica
1867
40
7 -
- -
*
Bed
ouin
s, A
rabi
a 29
0
- -
- D
i Rie
nzo
and
Wils
on, 1
991
* Eg
yptia
ns
320
40
- -
- K
rings
et a
l., 1
999;
Ste
vano
vitc
h et
al.,
200
4; th
is st
udy
* N
ubia
ns, s
outh
ern
Egyp
t, no
rther
n Su
dan
82
12
- -
- K
rings
et a
l., 1
999
* Su
dane
se, s
outh
ern
Suda
n tri
bes
79
6 -
- -
Krin
gs e
t al.,
199
9 N
orth
Eas
t Afr
ica
510
58
- -
-
* T
urke
y 60
6 15
7 1
0.2
0.6
Cal
afel
l et a
l., 1
996;
Com
as e
t al.,
199
6; R
icha
rds e
t al.,
200
0; th
is st
udy
Kuw
aitis
20
2 25
-
- -
this
stud
y Ir
ania
ns
338
68
1 0.
3 1.
5 R
icha
rds e
t al.,
200
0; th
is st
udy
Saud
is
205
25
- -
- th
is st
udy
Kur
ds
53
11
- -
- R
icha
rds e
t al.,
200
0 Le
bane
se
171
41
- -
- th
is st
udy
Syria
ns
290
38
- -
- R
icha
rds e
t al.,
200
0; th
is st
udy
Iraq
is
116
27
- -
- R
icha
rds e
t al.,
200
0 *
Jew
s, Y
emen
43
1
- -
- D
i Rie
nzo
and
Wils
on, 1
991;
Ric
hard
s et a
l., 2
000
Dru
ze, I
srae
l 45
6
- -
- M
acau
lay
et a
l., 1
999
* Pa
lest
inia
ns
117
35
- -
- D
i Rie
nzo
and
Wils
on, 1
991;
Ric
hard
s et a
l., 2
000
Reg
ion
/ Pop
ulat
ion
a Sa
mpl
e si
ze
N(H
)bH
1bc
H1b
(%
)dH
1b
(%H
)eRef
eren
cesf
Jord
ania
ns
212
40
- -
- th
is st
udy
Nea
r an
d M
iddl
e E
ast
1792
31
7 1
0.1
0.3
C
auca
sia
1572
37
7 1
0.1
0.3
Mac
aula
y et
al.,
199
9; R
icha
rds e
t al.,
200
0; th
is st
udy
* A
lban
ians
23
9 11
3 3
1.3
2.7
Bel
ledi
et a
l., 2
000;
this
stud
y C
reta
ns
187
82
2 1.
1 2.
4 th
is st
udy
Gre
eks
210
78
2 1.
0 2.
6 R
icha
rds e
t al.,
200
0; th
is st
udy
Eas
t Med
iterr
anea
n 63
6 27
3 7
1.1
2.6
*
Sard
inia
ns
115
55
- -
- D
i Rie
nzo
and
Wils
on 1
991,
Ric
hard
s et a
l., 2
000
* C
orsi
cans
46
24
-
- -
Var
esi e
t al.,
200
0 *
Sici
lians
64
3 23
0 2
0.3
0.9
Ric
hard
s et a
l., 2
000;
Cal
i et a
l., 2
001;
this
stud
y *
Italia
ns, c
entra
l Ita
ly
330
127
2 0.
6 1.
6 Fr
anca
lacc
i et a
l., 1
996;
Ric
hard
s et a
l., 2
000;
Tag
liabr
acci
et a
l., 2
001;
this
stud
y Sl
oven
es
186
83
- -
- M
alya
rchu
k et
al.,
200
3; th
is st
udy
Cro
atia
n is
land
ers
444
171
1 0.
2 0.
6 To
lk e
t al.,
200
1 C
roat
s, so
uthe
rn C
roat
ian
mai
nlan
d 14
6 64
1
0.7
1.6
this
stud
y C
roat
s, no
rther
n C
roat
ian
mai
nlan
d 29
4 13
6 2
0.7
1.5
this
stud
y C
entr
al M
edite
rran
ean
2204
89
0 8
0.4
0.9
*
Portu
gues
e 29
5 12
8 4
1.4
3.1
Cor
te-R
eal e
t al.,
199
6; P
erei
ra e
t al.,
200
0 *
Span
iard
s 49
3 21
7 4
0.8
1.8
Cor
te-R
eal e
t al.,
199
6; C
resp
illo
et a
l., 2
000;
Lar
ruga
et a
l., 2
001;
Mac
a-M
eyer
et a
l., 2
003
* B
asqu
es
106
72
- -
- B
ertra
npet
it et
al.,
199
5; C
orte
-Rea
l et a
l., 1
996
Gal
icia
ns
92
55
- -
- Sa
las e
t al.,
199
8 Le
bani
egos
72
38
1
1.4
2.6
Mac
a-M
eyer
et a
l., 2
003
Pasi
egos
82
22
-
- -
Mac
a-M
eyer
et a
l., 2
003
Iber
ia
1140
53
2 9
0.8
1.7
*
Engl
ish
334
164
7 2.
1 4.
3 Pi
ercy
et a
l., 1
993;
Ric
hard
s et a
l., 1
996;
Ric
hard
s et a
l., 2
000;
Hel
gaso
n et
al.,
200
1 Sc
ottis
h 89
1 40
2 6
0.7
1.5
Hel
gaso
n et
al.,
200
1 Ir
ish,
wes
tern
Irel
and
101
44
2 2.
0 4.
5 R
icha
rds e
t al.,
200
0 W
elsh
92
53
-
- -
Ric
hard
s et a
l., 1
996;
Ric
hard
s et a
l., 2
000
Scot
tish,
Wes
tern
Isle
s and
Sky
e 23
0 72
2
0.9
2.8
Hel
gaso
n et
al.,
200
1 *
Fren
ch
1130
54
0 1
0.1
0.2
Rou
ssel
et a
nd M
angi
n, 1
998;
Dan
an e
t al.,
199
9; R
icha
rds e
t al.,
200
0; C
ali e
t al.,
200
1; th
is st
udy
Wes
t 27
78
1275
18
0.
6 1.
4
* D
anis
h 33
19
-
- -
Ric
hard
s et a
l., 1
996
* N
orw
egia
ns
641
302
5 0.
8 1.
7 D
upuy
and
Ola
isen
199
6; O
pdal
et a
l., 1
998;
Hel
gaso
n et
al.,
200
1; P
assa
rino
et a
l., 2
002
* Sw
edes
50
3 21
6 7
1.4
3.2
Saja
ntila
et a
l., 1
996;
this
stud
y
Reg
ion
/ Pop
ulat
ion
a Sa
mpl
e si
ze
N(H
)bH
1bc
H1b
(%
)dH
1b
(%H
)eRef
eren
cesf
Scan
dina
via
1177
53
7 12
1.
0 2.
2
* G
erm
ans
1233
57
4 18
1.
5 3.
1 R
icha
rds e
t al.,
199
6; H
ofm
ann
et a
l., 1
997;
Baa
sner
et a
l., 1
998;
Lut
z et
al.,
199
8; P
feiff
er e
t al.,
199
9
* Po
les
583
262
22
3.8
8.4
Ric
hard
s et a
l., 2
000;
Mal
yarc
huk
et a
l., 2
002;
this
stud
y C
zech
s 17
7 73
3
1.7
4.1
Ric
hard
s et a
l., 2
000;
this
stud
y Sl
ovak
s 12
9 55
-
- -
this
stud
y N
orth
Cen
tral
21
22
964
43
2.0
4.5
*
Ger
man
s, so
uthe
rn G
erm
any,
Bav
aria
49
18
-
- -
Ric
hard
s et a
l., 1
996
* Sw
iss
434
189
3 0.
7 1.
6 Pu
lt et
al.,
199
4; D
imo-
Sim
onin
et a
l., 2
000;
this
stud
y Ita
lians
, Nor
th-E
ast I
taly
67
28
1
1.5
3.6
Mog
enta
le-P
rofiz
i et a
l., 2
001
* A
ustri
ans
117
56
4 3.
4 7.
1 H
andt
et a
l., 1
994;
Par
son
et a
l., 1
998
Alp
ine
667
291
8 1.
2 2.
7
Bos
nian
s 39
5 18
2 6
1.5
3.3
Mal
yarc
huk
et a
l., 2
003;
this
stud
y H
erze
govi
nian
s 14
1 53
-
- -
this
stud
y Se
rbs
121
44
2 1.
7 4.
5 th
is st
udy
Mac
edon
ians
14
4 61
-
- -
this
stud
y *
Bul
garia
ns
141
57
1 0.
7 1.
8 C
alaf
ell e
t al.,
199
6; R
icha
rds e
t al.,
200
0
Rom
ania
ns
446
186
3 0.
7 1.
6 R
icha
rds e
t al.,
200
0; th
is st
udy
Hun
garia
ns
116
47
3 2.
6 6.
4 th
is st
udy
Sout
h E
ast
1504
63
0 15
1.
0 2.
4
Ukr
aini
ans
646
260
18
2.8
6.9
Mal
yarc
huk
and
Der
enko
, 200
1; th
is st
udy
* R
ussi
ans
583
219
16
2.7
7.3
Ric
hard
s et a
l., 2
000;
this
stud
y E
ast S
outh
12
29
479
34
2.8
7.1
R
ussi
ans,
Nor
th-R
ussi
a 38
0 17
4 6
1.6
3.4
Ore
khov
et a
l., 1
999;
this
stud
y B
yelo
russ
ians
, Vite
bsk
89
34
2 2.
2 5.
9 th
is st
udy
Latv
ians
29
9 13
2 19
6.
4 14
.4 t
his s
tudy
Li
thua
nian
s 45
24
2
4.4
8.3
this
stud
y *
Esto
nian
s 54
5 25
1 24
4.
4 9.
6 Sa
jant
ila e
t al.,
199
5; th
is st
udy
* Fi
nns
581
236
3 0.
7 1.
3 Pu
lt et
al.,
199
4; S
ajan
tila
et a
l., 1
995;
Lah
erm
o et
al.,
199
6; K
ittle
s et a
l., 1
999;
Mei
nilä
et a
l., 2
001
* K
arel
ians
83
34
-
- -
Saja
ntila
et a
l., 1
995
Eas
t Nor
th
2022
88
5 56
2.
8 6.
3
* Sa
ami
445
18
- -
- Sa
jant
ila e
t al.,
199
5; D
upui
and
Ola
isen
199
6; D
elgh
andi
et a
l., 1
998;
Tam
bets
et a
l., 2
004
Bas
hkirs
20
9 30
2
1.0
6.7
Ber
mis
heva
et a
l., 2
002
Tata
rs
176
55
1 0.
6 1.
8 B
erm
ishe
va e
t al.,
200
2; th
is st
udy
Reg
ion
/ Pop
ulat
ion
a Sa
mpl
e si
ze
N(H
)bH
1bc
H1b
(%
)dH
1b
(%H
)eRef
eren
cesf
Chu
vash
es
89
26
- -
- R
icha
rds e
t al.,
200
0; B
erm
ishe
va e
t al.,
200
2 *
Mar
is
147
57
- -
- Sa
jant
ila e
t al.,
199
5; B
erm
ishe
va e
t al.,
200
2; th
is st
udy
* M
ordv
in
111
47
2 1.
8 4.
3 Sa
jant
ila e
t al.,
199
5; B
erm
ishe
va e
t al.,
200
2 K
omis
34
0 10
9 1
0.3
0.9
Ber
mis
heva
et a
l., 2
002;
this
stud
y V
olga
-Ura
lic
1072
32
4 6
0.6
1.9
K
alm
yks
120
1 -
- -
this
stud
y U
zbek
s 16
1 24
-
- -
this
stud
y A
rabs
, Uzb
ekis
tan
77
18
1 1.
3 5.
6 th
is st
udy
* K
azak
hs
191
23
- -
- C
omas
et a
l., 1
998;
Yao
et a
l., 2
000;
this
stud
y *
Kirg
hiz
197
25
- -
- C
omas
et a
l., 1
998;
this
stud
y Ta
jiks
78
15
- -
- th
is st
udy
Oro
ks
60
0 -
- -
this
stud
y *
Uig
hurs
16
7 28
-
- -
Com
as e
t al.,
199
8; Y
ao e
t al.,
200
0; th
is st
udy
Tuvi
nian
s 20
2 23
-
- -
this
stud
y A
ltaia
ns
449
44
- -
- D
eren
ko e
t al.,
200
2; th
is st
udy
Cen
tral
Asi
a 17
02
201
1 0.
1 0.
5
Kha
nts
255
46
3 1.
2 6.
5 th
is st
udy
Man
sis
98
14
5 5.
1 35
.7 D
erbe
neva
et a
l., 2
002
Nen
ets
79
13
- -
- th
is st
udy
Selk
ups
120
34
- -
- th
is st
udy
Ket
s 10
4 13
-
- -
Der
bene
va e
t al.,
200
2; th
is st
udy
Yak
uts
274
7 -
- -
Fedo
rova
et a
l., 2
003;
Puz
yrev
et a
l., 2
003
Dol
gans
13
0 1
- -
- th
is st
udy
Sibe
ria
1060
12
8 8
0.8
6.3
a P
opul
atio
ns a
re d
ivid
ed in
to g
eogr
aphi
cal r
egio
ns a
ccor
ding
to th
e m
odel
use
d by
Ric
hard
s et a
l. (2
000,
200
2) w
ith m
odifi
catio
ns. N
ote
that
the
East
ern
Euro
pean
pop
ulat
ions
hav
e be
en fu
rther
div
ided
into
nor
ther
n an
d so
uthe
rn re
gion
s. N
ote
also
that
the
Brit
ish
and
Fren
ch sa
mpl
es h
ave
been
gro
uped
into
the
“Wes
tern
” re
gion
. The
Bas
ques
are
incl
uded
in th
e “I
beria
n” re
gion
toge
ther
with
oth
er W
est M
edite
rran
ean
popu
latio
ns. b
Num
ber o
f hap
logr
oup
H sa
mpl
es, *
incl
udes
dat
a de
duce
d fr
om p
ublis
hed
sour
ces. c
Abs
olut
e fr
eque
ncy
of H
1b in
stud
ied
popu
latio
ns. d
Perc
enta
ge o
f H1b
. e Per
cent
age
of H
1b re
lativ
e to
hap
logr
oup
H. N
ote
that
the
follo
win
g sa
mpl
es a
naly
zed
here
ove
rlap
thos
e an
alyz
ed b
y Ta
mbe
ts e
t al.
(200
4): 7
3 Sa
amis
, 471
Sw
edes
, 497
Est
onia
ns, 2
99 L
atvi
ans,
45 L
ithua
nian
s, 13
4 R
ussi
ans f
rom
Nor
th, 6
24 U
krai
nian
s, 11
1 Po
les,
134
Mar
is, 2
08 K
omis
, 2 T
atar
s, 11
44 C
auca
sian
s, 15
0 Ita
lians
from
cen
tral I
taly
, 187
Cre
tans
, 85
Gre
eks,
440
Cro
ats,
199
Alb
ania
ns,
251
Bos
nian
s, 82
Slo
vene
s, 30
4 Fr
ench
, 116
Hun
garia
ns, 9
4 C
zech
s, 12
9 Sl
ovak
s, 25
5 K
hant
s, 79
Nen
ets,
120
Selk
ups,
66 K
ets,
130
Dol
gans
, 33
9 A
ltaia
ns.
f Baa
sner
, A.,
C. S
chaf
er, A
. Jun
ge, a
nd B
. Mad
ea. 1
998.
Pol
ymor
phic
site
s in
hum
an m
itoch
ondr
ial D
NA
con
trol r
egio
n se
quen
ces:
pop
ulat
ion
data
and
mat
erna
l inh
erita
nce.
For
ensi
c Sc
ienc
e In
tern
atio
nal 9
8:16
9-17
8.
Bel
ledi
, M.,
E. S
. Pol
oni,
R. C
asal
otti,
F. C
onte
rio, I
. Mik
erez
i, J.
Tagl
iavi
ni, a
nd L
. Exc
offie
r. 20
00. M
ater
nal a
nd p
ater
nal l
inea
ges i
n A
lban
ia
and
the
gene
tic st
ruct
ure
of In
do-E
urop
ean
popu
latio
ns. E
ur J
Hum
Gen
et 8
:480
-486
. B
erm
ishe
va, M
., K
. Tam
bets
, R. V
illem
s, an
d E.
Khu
snut
dino
va. 2
002.
Div
ersi
ty o
f mito
chon
dria
l DN
A h
aplo
type
s in
ethn
ic p
opul
atio
ns o
f the
V
olga
-Ura
l reg
ion
of R
ussi
a. M
ol B
iol (
Mos
k) 3
6:99
0-10
01.
Ber
tranp
etit,
J., J
. Sal
a, F
. Cal
afel
l, P.
A. U
nder
hill,
P. M
oral
, and
D. C
omas
. 199
5. H
uman
mito
chon
dria
l DN
A v
aria
tion
and
the
orig
in o
f B
asqu
es. A
nn H
um G
enet
59:
63-8
1.
Bra
kez,
Z.,
E. B
osch
, H. I
zaab
el, O
. Akh
ayat
, D. C
omas
, J. B
ertra
npet
it, a
nd F
. Cal
afel
l. 20
01. H
uman
mito
chon
dria
l DN
A se
quen
ce v
aria
tion
in
the
Mor
occa
n po
pula
tion
of th
e So
uss a
rea.
Ann
Hum
Bio
l 28:
295-
307.
C
alaf
ell,
F., P
. Und
erhi
ll, A
. Tol
un, D
. Ang
elic
heva
, and
L. K
alay
djie
va. 1
996.
Fro
m A
sia
to E
urop
e: m
itoch
ondr
ial D
NA
sequ
ence
var
iabi
lity
in B
ulga
rians
and
Tur
ks. A
nn H
um G
enet
60:
35-4
9.
Cal
i, F.
, M. G
. Le
Rou
x, R
. D'A
nna,
A. F
lugy
, G. D
e Le
o, V
. Chi
avet
ta, G
. F. A
yala
, and
V. R
oman
o. 2
001.
MtD
NA
con
trol r
egio
n an
d R
FLP
data
for S
icily
and
Fra
nce.
Int J
Leg
al M
ed 1
14:2
29-2
31.
Com
as, D
., F.
Cal
afel
l, E.
Mat
eu, A
. Per
ez-L
ezau
n, a
nd J.
Ber
tranp
etit.
199
6. G
eogr
aphi
c va
riatio
n in
hum
an m
itoch
ondr
ial D
NA
con
trol r
egio
n se
quen
ce: t
he p
opul
atio
n hi
stor
y of
Tur
key
and
its re
latio
nshi
p to
the
Euro
pean
pop
ulat
ions
. Mol
Bio
l Evo
l 13:
1067
-107
7.
Com
as, D
., F.
Cal
afel
l, E.
Mat
eu e
t al.
(9 c
o-au
thor
s). 1
998.
Tra
ding
gen
es a
long
the
silk
road
: mtD
NA
sequ
ence
s and
the
orig
in o
f Cen
tral
Asi
an p
opul
atio
ns. A
m J
Hum
Gen
et 6
3:18
24-1
838.
C
orte
-Rea
l, H
. B.,
V. A
. Mac
aula
y, M
. B. R
icha
rds,
G. H
ariti
, M. S
. Iss
ad, A
. Cam
bon-
Thom
sen,
S. P
apih
a, J.
Ber
tranp
etit,
and
B. C
. Syk
es.
1996
. Gen
etic
div
ersi
ty in
the
Iber
ian
Peni
nsul
a de
term
ined
from
mito
chon
dria
l seq
uenc
e an
alys
is. A
nn H
um G
enet
60:
331-
350.
C
resp
illo,
M.,
J. A
. Luq
ue, M
. Par
edes
, R. F
erna
ndez
, E. R
amire
z, a
nd J.
L. V
alve
rde.
200
0. M
itoch
ondr
ial D
NA
sequ
ence
s for
118
indi
vidu
als
from
nor
thea
ster
n Sp
ain.
Int J
Leg
al M
ed 1
14:1
30-1
32.
Dan
an, C
., D
. Ste
rnbe
rg, A
. Van
Ste
irteg
hem
, C. C
azen
euve
, P. D
uque
snoy
, C. B
esm
ond,
M. G
ooss
ens,
W. L
isse
ns, a
nd S
. Am
sele
m. 1
999.
Ev
alua
tion
of p
aren
tal m
itoch
ondr
ial i
nher
itanc
e in
neo
nate
s bor
n af
ter i
ntra
cyto
plas
mic
sper
m in
ject
ion.
Am
J H
um G
enet
65:
463-
473.
D
elgh
andi
, M.,
E. U
tsi,
and
S. K
raus
s. 19
98. S
aam
i mito
chon
dria
l DN
A re
veal
s dee
p m
ater
nal l
inea
ge c
lust
ers.
Hum
Her
ed 4
8:10
8-11
4.
Der
bene
va, O
. A.,
E. B
. Sta
rikov
skay
a, D
. C. W
alla
ce, a
nd R
. I. S
uker
nik.
200
2. T
race
s of e
arly
Eur
asia
ns in
the M
ansi
of n
orth
wes
t Sib
eria
re
veal
ed b
y m
itoch
ondr
ial D
NA
ana
lysi
s. A
m J
Hum
Gen
et 7
0:10
09-1
014.
D
eren
ko, M
. V.,
B. A
. Mal
iarc
huk,
and
I. A
. Zak
haro
v. 2
002.
[Orig
in o
f cau
caso
id-s
peci
fic m
itoch
ondr
ial D
NA
line
ages
in th
e et
hnic
po
pula
tions
of t
he A
ltai-S
ayan
regi
on].
Gen
etik
a 38
:129
2-12
97.
Di R
ienz
o, A
., an
d A
. C. W
ilson
. 199
1. B
ranc
hing
pat
tern
in th
e ev
olut
iona
ry tr
ee fo
r hum
an m
itoch
ondr
ial D
NA
. Pro
c N
atl A
cad
Sci U
S A
88
:159
7-16
01.
Dim
o-Si
mon
in, N
., F.
Gra
nge,
F. T
aron
i, C
. Bra
ndt-C
asad
eval
l, an
d P.
Man
gin.
200
0. F
oren
sic
eval
uatio
n of
mtD
NA
in a
pop
ulat
ion
from
sout
h w
est S
witz
erla
nd. I
nt J
Lega
l Med
113
:89-
97.
Dup
uy, B
. M.,
and
B. O
lais
en. 1
996.
MtD
NA
sequ
ence
s in
the
Nor
weg
ian
Saam
i and
mai
n po
pula
tion.
Pp.
23-
25 in
A. C
arra
cedo
, B.
Brin
kman
n, a
nd W
. Bär
, eds
. Adv
ance
s in
fore
nsic
hae
mog
enet
ics.
6. S
prin
ger-
Ver
lag,
Ber
lin, H
eide
lber
g, N
ew Y
ork.
Fe
doro
va, S
. A.,
M. A
. Ber
mis
heva
, R. V
illem
s, N
. R. M
aksi
mov
a, a
nd E
. K. K
husn
utdi
nova
. 200
3. A
naly
sis o
f mito
chon
dria
l DN
A li
neag
es in
Y
akut
s. M
ol B
iol (
Mos
k) 3
7:64
3-65
3.
Fors
ter,
P., R
. Har
ding
, A. T
orro
ni, a
nd H
.-J. B
ande
lt. 1
996.
Orig
in a
nd e
volu
tion
of N
ativ
e A
mer
ican
mtD
NA
var
iatio
n: a
reap
prai
sal.
Am
J H
um G
enet
59:
935-
945.
Fr
anca
lacc
i, P.
, J. B
ertra
npet
it, F
. Cal
afel
l, an
d P.
A. U
nder
hill.
199
6. S
eque
nce
dive
rsity
of t
he c
ontro
l reg
ion
of m
itoch
ondr
ial D
NA
in
Tusc
any
and
its im
plic
atio
ns fo
r the
peo
plin
g of
Eur
ope.
Am
J Ph
ys A
nthr
opol
100
:443
-460
. H
andt
, O.,
M. R
icha
rds,
M. T
rom
msd
orff
, C. K
ilger
, J. S
iman
aine
n, O
. Geo
rgie
v, K
. Bau
er, A
. Sto
ne, R
. Hed
ges,
W. S
chaf
fner
, and
et a
l. 19
94.
Mol
ecul
ar g
enet
ic a
naly
ses o
f the
Tyr
olea
n Ic
e M
an. S
cien
ce 2
64:1
775-
1778
. H
elga
son,
A.,
E. H
icke
y, S
. Goo
dacr
e, V
. Bos
nes,
K. S
tefa
nsso
n, R
. War
d, a
nd B
. Syk
es. 2
001.
mtD
NA
and
the
isla
nds o
f the
Nor
th A
tlant
ic:
estim
atin
g th
e pr
opor
tions
of N
orse
and
Gae
lic a
nces
try. A
m J
Hum
Gen
et 6
8:72
3-73
7.
Hof
man
n, S
., M
. Jak
sch,
R. B
ezol
d, S
. Mer
tens
, S. A
holt,
A. P
apro
tta, a
nd K
. D. G
erbi
tz. 1
997.
Pop
ulat
ion
gene
tics a
nd d
isea
se su
scep
tibili
ty:
char
acte
rizat
ion
of c
entra
l Eur
opea
n ha
plog
roup
s by
mtD
NA
gen
e m
utat
ions
, cor
rela
tion
with
D lo
op v
aria
nts a
nd a
ssoc
iatio
n w
ith d
isea
se.
Hum
Mol
Gen
et 6
:183
5-18
46.
Kitt
les,
R. A
., A
. W. B
erge
n, M
. Urb
anek
, M. V
irkku
nen,
M. L
inno
ila, D
. Gol
dman
, and
J. C
. Lon
g. 1
999.
Aut
osom
al, m
itoch
ondr
ial,
and
Y
chro
mos
ome
DN
A v
aria
tion
in F
inla
nd: e
vide
nce
for a
mal
e-sp
ecifi
c bo
ttlen
eck.
Am
J Ph
ys A
nthr
opol
108
:381
-399
. K
rings
, M.,
A. E
. Sal
em, K
. Bau
er e
t al.
(10
co-a
utho
rs).
1999
. mtD
NA
ana
lysi
s of N
ile R
iver
Val
ley
popu
latio
ns: A
gen
etic
cor
ridor
or a
bar
rier
to m
igra
tion?
Am
J H
um G
enet
64:
1166
-117
6.
Lahe
rmo,
P.,
A. S
ajan
tila,
P. S
isto
nen,
M. L
ukka
, P. A
ula,
L. P
elto
nen,
and
M. L
. Sav
onta
us. 1
996.
The
gen
etic
rela
tions
hip
betw
een
the
Finn
s an
d th
e Fi
nnis
h Sa
ami (
Lapp
s): a
naly
sis o
f nuc
lear
DN
A a
nd m
tDN
A. A
m J
Hum
Gen
et 5
8:13
09-1
322.
La
rrug
a, J.
M.,
F. D
iez,
F. M
. Pin
to, C
. Flo
res,
and
A. M
. Gon
zale
z. 2
001.
Mito
chon
dria
l DN
A c
hara
cter
isat
ion
of E
urop
ean
isol
ates
: the
M
arag
atos
from
Spa
in. E
ur J
Hum
Gen
et 9
:708
-716
. Lu
tz, S
., H
. J. W
eiss
er, J
. Hei
zman
n, a
nd S
. Pol
lak.
199
8. L
ocat
ion
and
freq
uenc
y of
pol
ymor
phic
pos
ition
s in
the
mtD
NA
con
trol r
egio
n of
in
divi
dual
s fro
m G
erm
any.
Int J
Leg
al M
ed 1
11:6
7-77
. M
aca-
Mey
er, N
., P.
San
chez
-Vel
asco
, C. F
lore
s, J.
M. L
arru
ga, A
. M. G
onza
les,
A. O
terin
o, a
nd F
. Ley
va-C
obia
n. 2
003.
Y C
hrom
omos
ome
and
Mith
ocon
dria
l DN
A C
hara
cter
izat
in o
f Pas
iego
s , A
Hum
an Is
olat
e fr
om C
anta
bria
(Spa
in).
Ann
als o
f hum
an G
enet
ics 6
7:32
7-33
9.
Mac
aula
y, V
. A.,
M. B
. Ric
hard
s, E.
Hic
key,
E. V
ega,
F. C
ruci
ani,
V. G
uida
, R. S
cozz
ari,
B. B
onné
-Tam
ir, B
. Syk
es, a
nd A
. Tor
roni
. 199
9. T
he
emer
ging
tree
of W
est E
uras
ian
mtD
NA
s: a
synt
hesi
s of c
ontro
l-reg
ion
sequ
ence
s and
RFL
Ps. A
m J
Hum
Gen
et 6
4:23
2-24
9.
Mal
iarc
huk,
B. A
., an
d M
. V. D
eren
ko. 2
001.
Mito
chon
dria
l DN
A v
aria
bilit
y in
Rus
sian
s and
Ukr
aini
ans:
Impl
icat
ions
to th
e or
igin
of t
he
East
ern
Slav
s. A
nn H
um G
enet
65:
63-7
8.
Mal
yarc
huk,
B. A
., T.
Grz
ybow
ski,
M. V
. Der
enko
, J. C
zarn
y, K
. Dro
bnic
, and
D. M
isci
cka-
Sliw
ka. 2
003.
Mito
chon
dria
l DN
A v
aria
bilit
y in
B
osni
ans a
nd S
love
nian
s. A
nn H
um G
enet
67:
412-
425.
M
alya
rchu
k, B
. A.,
T. G
rzyb
owsk
i, M
. V. D
eren
ko, J
. Cza
rny,
M. W
ozni
ak, a
nd D
. Mis
cick
a-Sl
iwka
. 200
2. M
itoch
ondr
ial D
NA
var
iabi
lity
in
Pole
s and
Rus
sian
s. A
nn H
um G
enet
66:
261-
283.
M
eini
lä, M
., S.
Fin
nilä
, and
K. M
ajam
aa. 2
001.
Evi
denc
e fo
r mtD
NA
adm
ixtu
re b
etw
een
the
Finn
s and
the
Saam
i. H
um H
ered
52:
160-
170.
M
ogen
tale
-Pro
fizi,
N.,
L. C
holle
t, A
. Ste
vano
vitc
h, V
. Dub
ut, C
. Pog
gi, M
. P. P
radi
e, J.
L. S
pado
ni, A
. Gill
es, a
nd E
. Ber
aud-
Col
omb.
200
1.
Mito
chon
dria
l DN
A se
quen
ce d
iver
sity
in tw
o gr
oups
of I
talia
n V
enet
o sp
eake
rs fr
om V
enet
o. A
nn H
um G
enet
65:
153-
166.
O
pdal
, S. H
., T.
O. R
ognu
m, A
. Veg
e, A
. K. S
tave
, B. M
. Dup
uy, a
nd T
. Ege
land
. 199
8. In
crea
sed
num
ber o
f sub
stitu
tions
in th
e D
-loop
of
mito
chon
dria
l DN
A in
the
sudd
en in
fant
dea
th sy
ndro
me.
Act
a Pa
edia
tr 87
:103
9-10
44.
Ore
khov
, V.,
A. P
olto
raus
, L. A
. Zhi
voto
vsky
, V. S
pits
yn, P
. Iva
nov,
and
N. Y
anko
vsky
. 199
9. M
itoch
ondr
ial D
NA
sequ
ence
div
ersi
ty in
R
ussi
ans.
FEB
S Le
tters
445
:197
-201
. Pa
rson
, W.,
T. J.
Par
sons
, R. S
chei
thau
er, a
nd M
. M. H
olla
nd. 1
998.
Pop
ulat
ion
data
for 1
01 A
ustri
an C
auca
sian
mito
chon
dria
l DN
A d
-loop
se
quen
ces:
app
licat
ion
of m
tDN
A se
quen
ce a
naly
sis t
o a
fore
nsic
cas
e. In
t J L
egal
Med
111
:124
-132
. Pa
ssar
ino,
G.,
G. L
. Cav
alle
ri, A
. A. L
in, L
. L. C
aval
li-Sf
orza
, A. L
. Bor
rese
n-D
ale,
and
P. A
. Und
erhi
ll. 2
002.
Diff
eren
t gen
etic
com
pone
nts i
n th
e N
orw
egia
n po
pula
tion
reve
aled
by
the
anal
ysis
of m
tDN
A a
nd Y
chr
omos
ome
poly
mor
phis
ms.
Eur J
Hum
Gen
et 1
0:52
1-52
9.
Pere
ira, L
., M
. J. P
rata
, and
A. A
mor
im. 2
000.
Div
ersi
ty o
f mtD
NA
line
ages
in P
ortu
gal:
not a
gen
etic
edg
e of
Eur
opea
n va
riatio
n. A
nn H
um
Gen
et 6
4:49
1-50
6.
Pfei
ffer
, H.,
B. B
rinkm
ann,
J. H
uhne
, B. R
olf,
A. A
. Mor
ris, R
. Ste
ighn
er, M
. M. H
olla
nd, a
nd P
. For
ster
. 199
9. E
xpan
ding
the
fore
nsic
Ger
man
m
itoch
ondr
ial D
NA
con
trol r
egio
n da
taba
se: g
enet
ic d
iver
sity
as a
func
tion
of sa
mpl
e si
ze a
nd m
icro
geog
raph
y. In
t J L
egal
Med
112
:291
-29
8.
Pier
cy, R
., K
. M. S
ulliv
an, N
. Ben
son,
and
P. G
ill. 1
993.
The
app
licat
ion
of m
itoch
ondr
ial D
NA
typi
ng to
the
stud
y of
whi
te C
auca
sian
gen
etic
id
entif
icat
ion.
Int J
Leg
al M
ed 1
06:8
5-90
. Pi
nto,
F.,
A. M
. Gon
zale
z, M
. Her
nand
ez, J
. M. L
arru
ga, a
nd V
. M. C
abre
ra. 1
996.
Gen
etic
rela
tions
hip
betw
een
the
Can
ary
Isla
nder
s and
thei
r A
fric
an a
nd S
pani
sh a
nces
tors
infe
rred
from
mito
chon
dria
l DN
A se
quen
ces.
Ann
Hum
Gen
et 6
0:32
1-33
0.
Plaz
a, S
., F.
Cal
afel
l, A
. Hel
al, N
. Bou
zern
a, G
. Lef
ranc
, J. B
ertra
npet
it, a
nd D
. Com
as. 2
003.
Join
ing
the
pilla
rs o
f Her
cule
s: m
tDN
A se
quen
ces
show
mul
tidire
ctio
nal g
ene
flow
in th
e w
este
rn M
edite
rran
ean.
Ann
Hum
Gen
et 6
7:31
2-32
8.
Pult,
I., A
. Saj
antil
a, J.
Sim
anai
nen,
O. G
eorg
iev,
W. S
chaf
fner
, and
S. P
aabo
. 199
4. M
itoch
ondr
ial D
NA
sequ
ence
s fro
m S
witz
erla
nd re
veal
st
rikin
g ho
mog
enei
ty o
f Eur
opea
n po
pula
tions
. Bio
l Che
m H
oppe
Sey
ler 3
75:8
37-8
40.
Puzy
rev,
V. P
., V
. A. S
tepa
nov,
M. V
. Gol
uben
ko, K
. V. P
uzyr
ev, N
. R. M
axim
ova,
V. N
. Kha
rkov
, M. G
. Spi
ridon
ova,
and
A. N
. Nog
ovits
ina.
20
03. M
tDN
A a
nd Y
-Chr
omos
ome
Line
ages
in th
e Y
akut
Pop
ulat
ion.
Gen
etik
a 39
:975
-981
. R
ando
, J. C
., F.
Pin
to, A
. M. G
onza
lez,
M. H
erna
ndez
, J. M
. Lar
ruga
, V. M
. Cab
rera
, and
H. J
. Ban
delt.
199
8. M
itoch
ondr
ial D
NA
ana
lysi
s of
north
wes
t Afr
ican
pop
ulat
ions
reve
als g
enet
ic e
xcha
nges
with
Eur
opea
n, n
ear-
east
ern,
and
sub-
Saha
ran
popu
latio
ns. A
nn H
um G
enet
62
:531
-550
. R
icha
rds,
M.,
H. C
orte
-Rea
l, P.
For
ster
, V. M
acau
lay,
H. W
ilkin
son-
Her
bots
, A. D
emai
ne, S
. Pap
iha,
R. H
edge
s, H
.-J. B
ande
lt, a
nd B
. Syk
es.
1996
. Pal
eolit
hic
and
neol
ithic
line
ages
in th
e Eu
rope
an m
itoch
ondr
ial g
ene
pool
. Am
J H
um G
enet
59:
185-
203.
R
icha
rds,
M.,
V. M
acau
lay,
E. H
icke
y et
al.
(23
co-a
utho
rs).
2000
. Tra
cing
Eur
opea
n fo
unde
r lin
eage
s in
the
Nea
r Eas
tern
mtD
NA
poo
l. A
m J
Hum
Gen
et 6
7:12
51-1
276.
R
ouss
elet
, F.,
and
P. M
angi
n. 1
998.
Mito
chon
dria
l DN
A p
olym
orph
ism
s: a
stud
y of
50
Fren
ch C
auca
sian
indi
vidu
als a
nd a
pplic
atio
n to
fore
nsic
ca
sew
ork.
Int J
Leg
al M
ed 1
11:2
92-2
98.
Saill
ard,
J., P
. For
ster
, N. L
ynne
rup,
H.-J
. Ban
delt,
and
S. N
ųrby
. 200
0. m
tDN
A v
aria
tion
amon
g G
reen
land
Esk
imos
: the
edg
e of
the
Ber
ingi
an
expa
nsio
n. A
m J
Hum
Gen
et 6
7:71
8-72
6.
Saja
ntila
, A.,
P. L
aher
mo,
T. A
nttin
en e
t al.
(10
co-a
utho
rs).
1995
. Gen
es a
nd la
ngua
ges i
n Eu
rope
: an
anal
ysis
of m
itoch
ondr
ial l
inea
ges.
Gen
ome
Res
5:4
2-52
. Sa
jant
ila, A
., A
. H. S
alem
, P. S
avol
aine
n, K
. Bau
er, C
. Gie
rig, a
nd S
. Paa
bo. 1
996.
Pat
erna
l and
mat
erna
l DN
A li
neag
es re
veal
a b
ottle
neck
in
the
foun
ding
of t
he F
inni
sh p
opul
atio
n. P
roc
Nat
l Aca
d Sc
i U S
A 9
3:12
035-
1203
9.
Sala
s, A
., D
. Com
as, M
. V. L
areu
, J. B
ertra
npet
it, a
nd A
. Car
race
do. 1
998.
mtD
NA
ana
lysi
s of t
he G
alic
ian
popu
latio
n: a
gen
etic
edg
e of
Eu
rope
an v
aria
tion.
Eur
J H
um G
enet
6:3
65-3
75.
Stev
anov
itch,
A.,
A. G
illes
, E. B
ouza
id, R
. Kef
i, F.
Par
is, R
. P. G
ayra
ud, J
. L. S
pado
ni, F
. El-C
hena
wi,
and
E. B
erau
d-C
olom
b. 2
004.
M
itoch
ondr
ial D
NA
Seq
uenc
e D
iver
sity
in a
Sed
enta
ry P
opul
atio
n fr
om E
gypt
. Ann
Hum
Gen
et 6
8:23
-39.
Ta
glia
brac
ci, A
., C
. Tur
chi,
L. B
usce
mi,
and
C. S
assa
roli.
200
1. P
olym
orph
ism
of t
he m
itoch
ondr
ial D
NA
con
trol r
egio
n in
Ital
ians
. Int
J Le
gal
Med
114
:224
-228
. Ta
mbe
ts, K
., S.
Roo
tsi,
T. K
ivis
ild e
t al.
(43
co-a
utho
rs).
2004
. The
Wes
tern
and
Eas
tern
Roo
ts o
f the
Saa
mi--
the
Stor
y of
Gen
etic
"Out
liers
" To
ld b
y M
itoch
ondr
ial D
NA
and
Y C
hrom
osom
es. A
m J
Hum
Gen
et 7
4:66
1-68
2.
Tolk
, H. V
., L.
Bar
ac, M
. Per
icic
, I. M
. Kla
ric, B
. Jan
icije
vic,
H. C
ampb
ell,
I. R
udan
, T. K
ivis
ild, R
. Vill
ems,
and
P. R
udan
. 200
1. T
he e
vide
nce
of m
tDN
A h
aplo
grou
p F
in a
Eur
opea
n po
pula
tion
and
its e
thno
hist
oric
impl
icat
ions
. Eur
J H
um G
enet
9:7
17-7
23.
Var
esi,
L., M
. Mem
mi,
M. C
. Cris
tofa
ri, G
. E. M
amel
i, C
. M. C
alo,
and
G. V
ona.
200
0. M
itoch
ondr
ial c
ontro
l-reg
ion
sequ
ence
var
iatio
n in
the
Cor
sica
n po
pula
tion,
Fra
nce.
Am
J H
uman
Bio
l 12:
339-
351.
Y
ao, Y
. G.,
X. M
. Lu,
H. R
. Luo
, W. H
. Li,
and
Y. P
. Zha
ng. 2
000.
Gen
e ad
mix
ture
in th
e si
lk ro
ad re
gion
of C
hina
: evi
denc
e fr
om m
tDN
A a
nd
mel
anoc
ortin
1 re
cept
or p
olym
orph
ism
. Gen
es G
enet
Sys
t 75:
173-
178.
1231
1iA
257
1171
914
766
7621
1593
076
7874
44
1235
8
7445
R
17 9693
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7028
HV
8572
1455
313
326
1583
313
708
1156
088
4314
869
1217
214
872
1171
933
3336
6615
466
6272
1368
014
953
1135
347
4513
182
1531
7
6515
4531
1370
815
924
1141
0
1372
511
044
1201
115
221
1448
814
149
1302
985
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1455
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313
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6253
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712
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Figu
re S
1. P
arsi
mon
ious
phy
loge
netic
tree
of m
tDN
A h
aplo
grou
p H
cod
ing
regi
on se
quen
ces,
incl
udin
g nu
cleo
tide
posi
tions
577
–
1602
3. M
utat
ions
are
tran
sitio
ns u
nles
s a tr
ansv
ersi
onal
bas
e ch
ange
has
bee
n sh
own.
Rec
urre
nt m
utat
ions
are
und
erlin
ed. P
ossi
ble
sequ
enci
ng m
ista
kes a
re sh
own
in it
alic
s. “9
-bp-
del”
– n
ine
base
pai
r del
etio
n be
twee
n po
sitio
ns 8
272
and
8289
. “12
311i
A”
–
inse
rtion
of A
bet
wee
n C
RS
posi
tions
123
11 a
nd 1
2312
. Seq
uenc
e da
ta is
from
the
follo
win
g so
urce
s: o
ne se
quen
ce fr
om R
eid
et a
l.
(199
4. H
um M
ol G
enet
3:1
435-
1436
) (R
eid)
; 7 fr
om R
iede
r et a
l. (1
998.
Nuc
leic
Aci
ds R
es 2
6:96
7-97
3) (R
ie);
2 fr
om L
evin
et a
l.
(199
9. G
enom
ics 5
5:13
5-14
6) (L
ev);
3 fr
om In
gman
et a
l. (2
000.
Nat
ure
408:
708-
713)
(Ing
); 29
from
Fin
nilä
et a
l. (2
001.
Am
J H
um
Gen
et 6
8:14
75-1
484)
(F),
mtD
NA
s num
ber 8
and
9 w
ere
excl
uded
bec
ause
of e
xces
sive
am
ount
of p
hylo
gene
tic c
onfli
cts i
n th
eir
sequ
ence
dat
a; 2
from
Mac
a-M
eyer
et a
l. (2
001.
BM
C G
enet
2:1
3; G
enB
ank
AF3
8199
3, A
F382
002)
(MM
); 21
4 fr
om H
errn
stad
t et a
l.
(200
2. A
m J
Hum
Gen
et 7
0:11
52-1
171)
, cor
rect
ed b
y th
e au
thor
s (20
03. A
m J
Hum
Gen
et 7
2:15
85-1
586)
(pla
in n
umbe
rs) a
nd 7
from
Mis
hmar
et a
l. (2
003.
Pro
c N
atl A
cad
Sci U
S A
100
:171
-176
) (E)
.