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.

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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

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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

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nd J.

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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

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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

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et 6

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C

orte

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l, H

. B.,

V. A

. Mac

aula

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. 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

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div

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ty in

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Iber

ian

Peni

nsul

a de

term

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chon

dria

l seq

uenc

e an

alys

is. A

nn H

um G

enet

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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

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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

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d P.

A. U

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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

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. 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

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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

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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

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. R

ando

, J. C

., F.

Pin

to, A

. M. G

onza

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M. H

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H. J

. Ban

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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

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. R

icha

rds,

M.,

H. C

orte

-Rea

l, P.

For

ster

, V. M

acau

lay,

H. W

ilkin

son-

Her

bots

, A. D

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. Pap

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R. H

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.-J. B

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nd B

. Syk

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. Pal

eolit

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and

neol

ithic

line

ages

in th

e Eu

rope

an m

itoch

ondr

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ene

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. 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.

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257

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076

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313

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391

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)

.