中国西北地区古代人群的DNA研究
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摘要
分子生物学技术的发展,使得从上世纪80年代初诞生的古代DNA研究逐步走上科学的发展轨道,并结合分子人类学、体质人类学、考古学、语言学、民族学等多种学科,为解决诸多科学问题,比如灭绝物种的进化谱系定位、早期智人和晚期智人的共存关系、动植物的驯化等等,提供了极有价值的信息。
中国的考古文化遗址众多,其中的古代人类遗骸不仅为人类学研究提供了物质基础,也为古代DNA研究提供了弥足珍贵的财富,使得我们可以通过现代分子生物学技术了解早期先民的渊源、遗传结构以及和现代人群的关系,从而为揭示晚期智人在中国的进化和迁徙历史提供重要线索。
按照学术界公认的古代DNA研究可靠性标准,我们对来自两个不同时期和不同地域的考古遗址——距今约2200年的秦始皇陵修陵人墓地和距今约2100年的新疆且末加瓦艾日克墓地——的人类遗骸进行了科学、严谨的古代DNA分析,获得了可靠的古代DNA数据。前者的研究结果显示,秦始皇陵修陵的劳工来自中国各地,不仅有汉族而且有少数民族,并且地域来源不局限于中国北方;后者的研究结果显示,在2500年前,新疆地区就已经存在欧亚大陆东、西方人群的基因融合,并且其中的西部成分主要来自西伯利亚而不是中亚。
此外,我们从技术层面上对古代DNA的抽提进行了研究,发现抽提阴性并不能如预期地检测到痕量的污染,并提出了相应的改进方法,推进了古代DNA研究的可靠性。
With the help of molecular biology, ancient DNA has been on the way of scientific development since it was born during 1980s'. Combined with molecular anthropology, physical anthropology, archaeology, linguistics and ethnology, ancient DNA has provided epochmaking information for many scientific questions, such as phylogenetic status of extinct species, relationship of early Homo sapiens ( Homo neanderthalensis) and late Homo sapiens, and domestication.
China is provided with plenty of archaeological site, where remains of ancient inhabitants have given invaluable opportunity, not only to anthropology, but also to ancient DNA. Therefore, using modern molecular biological technology, it is possible for ancient DNA to offer important clues for the knowledge of ancient inhabitants about their origins, genetic structures and relationships with contemporary Chinese.
According to acknowledged authority of ancient DNA study, we achieved ancient DNA data from two different site - the graveyard of mausoleum -building workers for the First Emperor in Xi'an of Shaanxi Province and the graveyard of Gavaerk in Qiemo (Ch(a|¨)rch(a|¨)n) of Xinjiang Province, dating about 2200 and 2100 years before present respectively. The former results showed that the origin of mausoleum-building workers was diverse including Han and minorities, moreover, it was not limited in northern China; The later ones suggested that in Xinjiang, the genetic admixture of east and west Eurasian populations occurred 2,500 years ago, and moreover, the west Eurasian populations might be from Siberia rather than Central Asia.
In addition, we studied the technique of ancient DNA extraction and found that out of our expectation, extraction negative controls could not detect trace of contaminants. Afterwards, we proposed improvement of ancient DNA extraction, which advanced the authority of ancient DNA study.
中国的考古文化遗址众多,其中的古代人类遗骸不仅为人类学研究提供了物质基础,也为古代DNA研究提供了弥足珍贵的财富,使得我们可以通过现代分子生物学技术了解早期先民的渊源、遗传结构以及和现代人群的关系,从而为揭示晚期智人在中国的进化和迁徙历史提供重要线索。
按照学术界公认的古代DNA研究可靠性标准,我们对来自两个不同时期和不同地域的考古遗址——距今约2200年的秦始皇陵修陵人墓地和距今约2100年的新疆且末加瓦艾日克墓地——的人类遗骸进行了科学、严谨的古代DNA分析,获得了可靠的古代DNA数据。前者的研究结果显示,秦始皇陵修陵的劳工来自中国各地,不仅有汉族而且有少数民族,并且地域来源不局限于中国北方;后者的研究结果显示,在2500年前,新疆地区就已经存在欧亚大陆东、西方人群的基因融合,并且其中的西部成分主要来自西伯利亚而不是中亚。
此外,我们从技术层面上对古代DNA的抽提进行了研究,发现抽提阴性并不能如预期地检测到痕量的污染,并提出了相应的改进方法,推进了古代DNA研究的可靠性。
With the help of molecular biology, ancient DNA has been on the way of scientific development since it was born during 1980s'. Combined with molecular anthropology, physical anthropology, archaeology, linguistics and ethnology, ancient DNA has provided epochmaking information for many scientific questions, such as phylogenetic status of extinct species, relationship of early Homo sapiens ( Homo neanderthalensis) and late Homo sapiens, and domestication.
China is provided with plenty of archaeological site, where remains of ancient inhabitants have given invaluable opportunity, not only to anthropology, but also to ancient DNA. Therefore, using modern molecular biological technology, it is possible for ancient DNA to offer important clues for the knowledge of ancient inhabitants about their origins, genetic structures and relationships with contemporary Chinese.
According to acknowledged authority of ancient DNA study, we achieved ancient DNA data from two different site - the graveyard of mausoleum -building workers for the First Emperor in Xi'an of Shaanxi Province and the graveyard of Gavaerk in Qiemo (Ch(a|¨)rch(a|¨)n) of Xinjiang Province, dating about 2200 and 2100 years before present respectively. The former results showed that the origin of mausoleum-building workers was diverse including Han and minorities, moreover, it was not limited in northern China; The later ones suggested that in Xinjiang, the genetic admixture of east and west Eurasian populations occurred 2,500 years ago, and moreover, the west Eurasian populations might be from Siberia rather than Central Asia.
In addition, we studied the technique of ancient DNA extraction and found that out of our expectation, extraction negative controls could not detect trace of contaminants. Afterwards, we proposed improvement of ancient DNA extraction, which advanced the authority of ancient DNA study.
引文
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42.Tanaka M,Cabrera VM,Gonzalez AM,Larruga JM,Takeyasu T,et al.(2004) Mitochondrial genome variation in eastern Asia and the peopling of Japan.Genome Res 14:1832-1850.
1. Krause J, Orlando L, Serre D, Viola B, Prufer K, et al. (2007) Neanderthals in central Asia and Siberia. Nature 449: 902-904.
2. Wang B (1996) A preliminary analysis of the archaeological cultures of the Bronze Age in the region of Xinjiang. Anthropol Archaeol Eurasia 34: 67-86.
3. Barber EW (1999) The mummies of (?)r(?)mchi. Norton, New York.
4. Mallory J. P., Mair VH (2000) The Tarim mummies. Thames and Hudson, London.
5. Han K (1994) The study of ancient human skeletons from Xinjiang, China. Department of Asian and Middle Eastern Studies, University of Pennsylvania, Philadelphia.
6. Han K (1994) The racial anthropological study of the ancient Inhabitants of Xinjiang.People's Press of Xinjiang, Urumchi, China.
7. Han K (1998) The physical anthropology of the ancient populations of the Tarim Basin and surrounding areas. In: Mair, V.H. (Eds.), The Bronze Age and early Iron Age peoples of eastern Central Asia. University of Pennsylvania Museum Publications,Philadelphia 2: 558-570.
8. Jettmar K (1998) Early migrations in Central Asia, n: Mair VH, editor The Bronze Age and early Iron Age peoples of eastern Central Asia Philadelphia: University of Pennsylvania Museum Publications 1: 215-221.
9. Mair V (1995) Prehistoric Caucasoid corpses of the Tarim Basin. J Indo Eur Stud 23:281-307.
10. Mair V (1998) Priorities. In: Mair VH, editorThe Bronze Age and early Iron Age peoples of eastern Central Asia Philadelphia: University of Pennsylvania Museum Publications 1:4-41.
11. Hemphill BE, Mallory JP (2004) Horse-mounted invaders from the Russo-Kazakh steppe or agricultural colonists from western Central Asia? A craniometric investigation of the Bronze Age settlement of Xinjiang. Am J Phys Anthropol 124: 199-222.
12. Comas D, Calafell F, Mateu E, Perez-Lezaun A, Bosch E, et al. (1998) Trading genes along the silk road: mtDNA sequences and the origin of central Asian populations. Am J Hum Genet 63: 1824-1838.
13. Ingman M, Kaessmann H, Paabo S, Gyllensten U (2000) Mitochondrial genome variation and the origin of modern humans. Nature 408: 708-713.
14. Finnila S, Lehtonen MS, Majamaa K (2001) Phylogenetic network for European mtDNA.Am J Hum Genet 68: 1475-1484.
15. Maca-Meyer N, Gonzalez AM, Larruga JM, Flores C, Cabrera VM (2001) Major genomic mitochondrial lineages delineate early human expansions. BMC Genet 2: 13.
16. Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, et al. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 70: 1152-1171.
17. Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL, et al. (2003) Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet 73:671-676.
18. Macaulay V, Richards M, Hickey E, Vega E, Cruciani F, et al. (1999) The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. Am J Hum Genet 64: 232-249.
19. Kivisild T, Tolk HV, Parik J, Wang Y, Papiha SS, et al. (2002) The emerging limbs and twigs of the East Asian mtDNA tree. Mol Biol Evol 19: 1737-1751.
20. Fiori G, Facchini F, Ismagulov O, Ismagulova A, Tarazona-Santos E, et al. (2000) Lung volume, chest size, and hematological variation in low-, medium-, and high-altitude central Asian populations. Am J Phys Anthropol 113: 47-59.
21. Perez-Lezaun A, Calafell F, Comas D, Mateu E, Bosch E, et al. (1999) Sex-specific migration patterns in Central Asian populations, revealed by analysis of Y-chromosome short tandem repeats and mtDNA. Am J Hum Genet 65: 208-219.
22. Wells RS, Yuldasheva N, Ruzibakiev R, Underhill PA, Evseeva I, et al. (2001) The Eurasian heartland: a continental perspective on Y-chromosome diversity. Proc Natl Acad Sci U S A 98: 10244-10249.
23. Zerjal T, Wells RS, Yuldasheva N, Ruzibakiev R, Tyler-Smith C (2002) A genetic landscape reshaped by recent events: Y-chromosomal insights into central Asia. Am J Hum Genet 71: 466-482.
24. Karafet T, Xu L, Du R, Wang W, Feng S, et al. (2001) Paternal population history of East Asia: sources, patterns, and microevolutionary processes. Am J Hum Genet 69:615-628.
25. Oota H, Saitou N, Matsushita T, Ueda S (1999) Molecular genetic analysis of remains of a 2,000-year-old human population in China-and its relevance for the origin of the modern Japanese population. Am J Hum Genet 64: 250-258.
26. Wang L, Oota H, Saitou N, Jin F, Matsushita T, et al. (2000) Genetic structure of a 2,500-year-old human population in China and its spatiotemporal changes. Mol Biol Evol 17: 1396-1400.
27. Keyser-Tracqui C, Crubezy E, Ludes B (2003) Nuclear and mitochondrial DNA analysis of a 2,000-year-old necropolis in the Egyin Gol Valley of Mongolia. Am J Hum Genet 73:247-260.
28. Yao YG, Kong QP, Man XY, Bandelt HJ, Zhang YP (2003) Reconstructing the evolutionary history of China: a caveat about inferences drawn from ancient DNA. Mol Biol Evol 20:214-219.
29. Zhang J (2002) Studies of Human Skulls in Gavaerk site in Qiemo, Xinjiang. Proceedings of The International Symposium of Anthropological Studies at Fudan University.
30. Kemp BM, Smith DG (2005) Use of bleach to eliminate contaminating DNA from the surface of bones and teeth. Forensic Sci Int 154: 53-61.
31. Malmstr(?)m H, Svensson EM, Gilbert MT, Willerslev E, G(?)therstr(?)m A, et al. (2007) More on contamination: the use of asymmetric molecular behavior to identify authentic ancient human DNA. Mol Biol Evol 24: 998-1004.
32. Rohland N, Hofreiter M (2007) Ancient DNA extraction from bones and teeth. Nat Protoc 2:1756-1762.
33. Excoffier L, Laval G, Schneider S (2005) Arlequin ver. 3.0: An integrated software package for population genetics data analysis. Evolutionary Bioinformatics 1: 47-50.
34. Roberts DF, Hiorns RW (1965) Methods of Analysis of the Genetic Composition of a Hybrid Population. Hum Biol 37: 38-43.
35. Dupanloup I, Bertorelle G (2001) Inferring admixture proportions from molecular data:extension to any number of parental populations. Mol Biol Evol 18: 672-675.
36. Oota H, Kitano T, Jin F, Yuasa I, Wang L, et al. (2002) Extreme mtDNA homogeneity in continental Asian populations. Am J Phys Anthropol 118: 146-153.
37. Lee SD, Shin CH, Kim KB, Lee YS, Lee JB (1997) Sequence variation of mitochondrial DNA control region in Koreans. Forensic Sci Int 87: 99-116.
38. Pfeiffer H, Steighner R, Fisher R, Mornstad H, Yoon CL, et al. (1998) Mitochondrial DNA extraction and typing from isolated dentin-experimental evaluation in a Korean population. Int J Legal Med 111: 309-313.
39. Pakendorf B, Wiebe V, Tarskaia LA, Spitsyn VA, Soodyall H, et al. (2003) Mitochondrial DNA evidence for admixed origins of central Siberian populations. Am J Phys Anthropol 120: 211-224.
40. Derenko MV, Grzybowski T, Malyarchuk BA, Dambueva IK, Denisova GA, et al. (2003) Diversity of mitochondrial DNA lineages in South Siberia. Ann Hum Genet 67:391-411.
41. Kong QP, Yao YG, Liu M, Shen SP, Chen C, et al. (2003) Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China. Hum Genet 113:391-405.
42. Kolman CJ, Sambuughin N, Bermingham E (1996) Mitochondrial DNA analysis of Mongolian populations and implications for the origin of New World founders. Genetics 142: 1321-1334.
43. Wen B, Li H, Lu D, Song X, Zhang F, et al. (2004) Genetic evidence supports demic diffusion of Han culture. Nature 431: 302-305.
44. Yao YG, Nie L, Harpending H, Fu YX, Yuan ZG, et al. (2002) Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversity. Am J Phys Anthropol 118:63-76.
45. Li H, Cai X, Winograd-Cort ER, Wen B, Cheng X, et al. (2007) Mitochondrial DNA diversity and population differentiation in southern East Asia. Am J Phys Anthropol 134:481-488.
46. Wen B, Xie X, Gao S, Li H, Shi H, et al. (2004) Analyses of genetic structure of Tibeto-Burman populations reveals sex-biased admixture in southern Tibeto-Burmans.Am J Hum Genet 74: 856-865.
47. Yao YG, Zhang YP (2002) Phylogeographic analysis of mtDNA variation in four ethnic populations from Yunnan Province: new data and a reappraisal. J Hum Genet 47:311-318.
48. Wen B, Li H, Gao S, Mao X, Gao Y, et al. (2005) Genetic structure of Hmong-Mien speaking populations in East Asia as revealed by mtDNA lineages. Mol Biol Evol 22:725-734.
49. Yao YG, Kong QP, Wang CY, Zhu CL, Zhang YP (2004) Different matrilineal contributions to genetic structure of ethnic groups in the silk road region in china. Mol Biol Evol 21:2265-2280.
50. Yao YG, Lu XM, Luo HR, Li WH, Zhang YP (2000) Gene admixture in the silk road region of China: evidence from mtDNA and melanocortin 1 receptor polymorphism. Genes Genet Syst 75: 173-178.
51. Comas D, Plaza S, Wells RS, Yuldaseva N, Lao O, et al. (2004) Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages. Eur J Hum Genet 12: 495-504.
52. Quintana-Murci L, Chaix R, Wells RS, Behar DM, Sayar H, et al. (2004) Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor. Am J Hum Genet 74: 827-845.
53. Kivisild T, Bamshad MJ, Kaldma K, Metspalu M, Metspalu E, et al. (1999) Deep common ancestry of indian and western-Eurasian mitochondrial DNA lineages. Curr Biol 9:1331-1334.
54. Cordaux R, Saha N, Bentley GR, Aunger R, Sirajuddin SM, et al. (2003) Mitochondrial DNA analysis reveals diverse histories of tribal populations from India. Eur J Hum Genet 11: 253-264.
55. Derbeneva OA, Starikovskaya EB, Wallace DC, Sukernik RI (2002) Traces of early Eurasians in the Mansi of northwest Siberia revealed by mitochondrial DNA analysis.Am J Hum Genet 70: 1009-1014.
56. Richards M, Macaulay V, Hickey E, Vega E, Sykes B, et al. (2000) Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67: 1251-1276.
57. Alvarez JC, Johnson DL, Lorente JA, Martinez-Espin E, Martinez-Gonzalez LJ, et al. (2007) Characterization of human control region sequences for Spanish individuals in a forensic mtDNA data set. Leg Med (Tokyo) 9: 293-304.
58. Fu Y, Zhao H, Cui Y, Zhang Q, Xu X, et al. (2007) Molecular genetic analysis of Wanggu remains, Inner Mongolia, China. Am J Phys Anthropol 132: 285-291.
59. Fu Y, Xie C, Xu X, Li C, Zhang Q, et al. (2008) Ancient DNA analysis of human remains from the upper capital city of Kublai Khan. Am J Phys Anthropol.
60. Gao SZ, Yang YD, Xu Y, Zhang QC, Zhu H, et al. (2007) Tracing the genetic history of the Chinese people: Mitochondrial DNA analysis of aneolithic population from the Lajia site. Am J Phys Anthropol 133: 1128-1136.
61. Ricaut FX, Keyser-Tracqui C, Cammaert L, Crubezy E, Ludes B (2004) Genetic analysis and ethnic affinities from two Scytho-Siberian skeletons. Am J Phys Anthropol 123:351-360.
62. Lalueza-Fox C, Sampietro ML, Gilbert MT, Castri L, Facchini F, et al. (2004) Unravelling migrations in the steppe: mitochondrial DNA sequences from ancient central Asians.Proc Biol Sci 271: 941-947.
63. Tomory G, Csanyi B, Bogacsi-Szabo E, Kalmar T, Czibula A, et al. (2007) Comparison of maternal lineage and biogeographic analyses of ancient and modern Hungarian populations. Am J Phys Anthropol 134: 354-368.
64. Melchior L, Kivisild T, Lynnerup N, Dissing J (2008) Evidence of authentic DNA from Danish Viking Age skeletons untouched by humans for 1,000 years. PLoS ONE 3:e2214.
65. Gilbert MT, Binladen J, Miller W, Wiuf C, Willerslev E, et al. (2007) Recharacterization of ancient DNA miscoding lesions: insights in the era of sequencing-by-synthesis.Nucleic Acids Res 35: 1-10.
66. Brotherton P, Endicott P, Sanchez JJ, Beaumont M, Barnett R, et al. (2007) Novel high-resolution characterization of ancient DNA reveals C > U-type base modification events as the sole cause of post mortem miscoding lesions. Nucleic Acids Res.
67. Kumar S, Tamura K, Nei M (1994) MEGA: Molecular Evolutionary Genetics Analysis software for microcomputers. Comput Appl Biosci 10: 189-191.
68. Gokcumen O, Dulik MC, Pai AA, Zhadanov SI, Rubinstein S, et al. (2008) Genetic variation in the enigmatic Altaian Kazakhs of South-Central Russia: insights into Turkic population history. Am J Phys Anthropol 136: 278-293.
69. Xu S, Jin L (2008) A Genome-wide Analysis of Admixture in Uyghurs and a High-Density Admixture Map for Disease-Gene Discovery. Am J Hum Genet.
70. Francalacci P (1995) DNA analysis of ancient desiccated corpses from Xinjiang. Indo Eur Stud 23: 385-398.
71. Wilson MR, Allard MW, Monson K, Miller KW, Budowle B (2002) Recommendations for consistent treatment of length variants in the human mitochondrial DNA control region.Forensic Sci Int 129: 35-42.
72. Bandelt HJ, Parson W (2008) Consistent treatment of length variants in the human mtDNA control region: a reappraisal. Int J Legal Med 122: 11-21.
73. Bo W, Hong S, Ling R, Huifeng X, Kaiyuan L, et al. (2004) The origin of Mosuo people as revealed by mtDNA and Y chromosome variation. Sci China C Life Sci 47: 1-10.
74. Mair VH (2004) The Beginnings of Sino-lndian Cultural Contact. Journal of Asian History 38: 81-96.
1. Krause J, Orlando L, Serre D, Viola B, Prufer K, et al. (2007) Neanderthals in central Asia and Siberia.Nature 449: 902-904.
2. Wang B (1996) A preliminary analysis of the archaeological cultures of the Bronze Age in the region of Xinjiang. Anthropol Archaeol Eurasia 34: 67-86.
3. Barber EW (1999) The mummies of Urumchi. Norton, New York.
4. Mallory J. P., Mair VH (2000) The Tarim mummies. Thames and Hudson, London.
5. Han K (1994) The study of ancient human skeletons from Xinjiang, China. Department of Asian and Middle Eastern Studies, University of Pennsylvania, Philadelphia.
6. Han K (1994) The racial anthropological study of the ancient Inhabitants of Xinjiang. People's Press of Xinjiang, Urumchi, China.
7. Han K (1998) The physical anthropology of the ancient populations of the Tarim Basin and surrounding areas. In: Mair, V.H. (Eds.), The Bronze Age and early Iron Age peoples of eastern Central Asia. University of Pennsylvania Museum Publications, Philadelphia 2: 558-570.
8. Jettmar K (1998) Early migrations in Central Asia. n: Mair VH, editor The Bronze Age and early Iron Age peoples of eastern Central Asia Philadelphia: University of Pennsylvania Museum Publications 1: 215-221.
9. Mair V (1995) Prehistoric Caucasoid corpses of the Tarim Basin. J Indo Eur Stud 23: 281-307.
10. Mair V (1998) Priorities. In: Mair VH, editorThe Bronze Age and early Iron Age peoples of eastern Central Asia Philadelphia: University of Pennsylvania Museum Publications 1:4-41.
11. Hemphill BE, Mallory JP (2004) Horse-mounted invaders from the Russo-Kazakh steppe or agricultural colonists from western Central Asia? A craniometric investigation of the Bronze Age settlement of Xinjiang. Am J Phys Anthropol 124:199-222.
12. Comas D, Calafell F, Mateu E, Perez-Lezaun A, Bosch E, et al. (1998) Trading genes along the silk road: mtDNA sequences and the origin of central Asian populations. Am J Hum Genet 63:1824-1838.
13. Ingman M, Kaessmann H, Paabo S, Gyllensten U (2000) Mitochondrial genome variation and the origin of modern humans. Nature 408: 708-713.
14. Finnila S, Lehtonen MS, Majamaa K (2001) Phylogenetic network for European mtDNA. Am J Hum Genet 68:1475-1484.
15. Maca-Meyer N, Gonzalez AM, Larruga JM, Flores C, Cabrera VM (2001) Major genomic mitochondrial lineages delineate early human expansions. BMC Genet 2:13.
16. Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, et al. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African,Asian, and European haplogroups. Am J Hum Genet 70:1152-1171.
17. Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL, et al. (2003) Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet 73: 671-676.
18. Macaulay V, Richards M, Hickey E, Vega E, Cruciani F, et al. (1999) The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. Am J Hum Genet 64:232-249.
19. Kivisild T, Tolk HV, Parik J, Wang Y, Papiha SS, et al. (2002) The emerging limbs and twigs of the East Asian mtDNA tree. Mol Biol Evol 19:1737-1751.
20. Fiori G, Facchini F, Ismagulov O, Ismagulova A, Tarazona-Santos E, et al. (2000) Lung volume, chest size, and hematological variation in low-, medium-, and high-altitude central Asian populations. Am J Phys Anthropol 113:47-59.
21. Perez-Lezaun A, Calafell F, Comas D, Mateu E, Bosch E, et al. (1999) Sex-specific migration patterns in Central Asian populations, revealed by analysis of Y-chromosome short tandem repeats and mtDNA. Am J Hum Genet 65: 208-219.
22. Wells RS, Yuldasheva N, Ruzibakiev R, Underhill PA, Evseeva I, et al. (2001) The Eurasian heartland: a continental perspective on Y-chromosome diversity. Proc Natl Acad Sci U S A 98:10244-10249.
23. Zerjal T, Wells RS, Yuldasheva N, Ruzibakiev R, Tyler-Smith C (2002) A genetic landscape reshaped by recent events: Y-chromosomal insights into central Asia. Am J Hum Genet 71:466-482.
24. Karafet T, Xu L, Du R, Wang W, Feng S, et al. (2001) Paternal population history of East Asia: sources, patterns, and microevolutionary processes. Am J Hum Genet 69: 615-628.
25. Oota H, Saitou N, Matsushita T, Ueda S (1999) Molecular genetic analysis of remains of a 2,000-year-old human population in China-and its relevance for the origin of the modern Japanese population. Am J Hum Genet 64: 250-258.
26. Wang L, Oota H, Saitou N, Jin F, Matsushita T, et al. (2000) Genetic structure of a 2,500-year-old human population in China and its spatiotemporal changes. Mol Biol Evol 17:1396-1400.
27. Keyser-Tracqui C, Crubezy E, Ludes B (2003) Nuclear and mitochondrial DNA analysis of a 2,000-year-old necropolis in the Egyin Gol Valley of Mongolia. Am J Hum Genet 73: 247-260.
28. Yao YG, Kong QP, Man XY, Bandelt HJ, Zhang YP (2003) Reconstructing the evolutionary history of China: a caveat about inferences drawn from ancient DNA. Mol Biol Evol 20: 214-219.
29. Zhang J (2002) Studies of Human Skulls in Gavaerk site in Qiemo, Xinjiang. Proceedings of The International Symposium of Anthropological Studies at Fudan University.
30. Kemp BM, Smith DG (2005) Use of bleach to eliminate contaminating DNA from the surface of bones and teeth. Forensic Sci Int 154: 53-61.
31. Malmstrom H, Svensson EM, Gilbert MT, Willerslev E, Gotherstrom A, et al. (2007) More on contamination: the use of asymmetric molecular behavior to identify authentic ancient human DNA. Mol Biol Evol 24: 998-1004.
32. Rohland N, Hofreiter M (2007) Ancient DNA extraction from bones and teeth. Nat Protoc 2:1756-1762.
33. Excoffier L, Laval G, Schneider S (2005) Arlequin ver. 3.0: An integrated software package for population genetics data analysis. Evolutionary Bioinformatics 1: 47-50.
34. Roberts DF, Hiorns RW (1965) Methods of Analysis of the Genetic Composition of a Hybrid Population. Hum Biol 37: 38-43.
35. Dupanloup I, Bertorelle G (2001) Inferring admixture proportions from molecular data: extension to any number of parental populations. Mol Biol Evol 18: 672-675.
36. Oota H, Kitano T, Jin F, Yuasa I, Wang L, et al. (2002) Extreme mtDNA homogeneity in continental Asian populations. Am J Phys Anthropol 118:146-153.
37. Lee SD, Shin CH, Kim KB, Lee YS, Lee JB (1997) Sequence variation of mitochondrial DNA control region in Koreans. Forensic Sci Int 87: 99-116.
38. Pfeiffer H, Steighner R, Fisher R, Mornstad H, Yoon CL, et al. (1998) Mitochondrial DNA extraction and typing from isolated dentin-experimental evaluation in a Korean population. Int J Legal Med 111: 309-313.
39. Pakendorf B, Wiebe V, Tarskaia LA, Spitsyn VA, Soodyall H, et al. (2003) Mitochondrial DNA evidence for admixed origins of central Siberian populations. Am J Phys Anthropol 120:211-224.
40. Derenko MV, Grzybowski T, Malyarchuk BA, Dambueva IK, Denisova GA, et al. (2003) Diversity of mitochondrial DNA lineages in South Siberia. Ann Hum Genet 67: 391-411.
41. Kong QP, Yao YG, Liu M, Shen SP, Chen C, et al. (2003) Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China. Hum Genet 113: 391-405.
42. Kolman G, Sambuughin N, Bermingham E (1996) Mitochondrial DNA analysis of Mongolian populations and implications for the origin of New World founders. Genetics 142:1321-1334.
43. Wen B, Li H, Lu D, Song X, Zhang F, et al. (2004) Genetic evidence supports demic diffusion of Han culture. Nature 431: 302-305.
44. Yao YG, Nie L, Harpending H, Fu YX, Yuan ZG, et al. (2002) Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversity. Am J Phys Anthropol 118: 63-76.
45. Li H, Cai X, Winograd-Cort ER, Wen B, Cheng X, et al. (2007) Mitochondrial DNA diversity and population differentiation in southern East Asia. Am J Phys Anthropol 134: 481-488.
46. Wen B, Xie X, Gao S, Li H, Shi H, et al. (2004) Analyses of genetic structure of Tibeto-Burman populations reveals sex-biased admixture in southern Tibeto-Burmans. Am J Hum Genet 74:856-865.
47. Yao YG, Zhang YP (2002) Phylogeographic analysis of mtDNA variation in four ethnic populations from Yunnan Province: new data and a reappraisal. J Hum Genet 47: 311-318.
48. Wen B, Li H, Gao S, Mao X, Gao Y, et al. (2005) Genetic structure of Hmong-Mien speaking populations in East Asia as revealed by mtDNA lineages. Mol Biol Evol 22: 725-734.
49. Yao YG, Kong QP, Wang CY, Zhu CL, Zhang YP (2004) Different matrilineal contributions to genetic structure of ethnic groups in the silk road region in china. Mol Biol Evol 21: 2265-2280.
50. Yao YG, Lu XM, Luo HR, Li WH, Zhang YP (2000) Gene admixture in the silk road region of China: evidence from mtDNA and melanocortin 1 receptor polymorphism. Genes Genet Syst 75:173-178.
51. Comas D, Plaza S, Wells RS, Yuldaseva N, Lao O, et al. (2004) Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages. Eur J Hum Genet 12:495-504.
52. Quintana-Murci L, Chaix R, Wells RS, Behar DM, Sayar H, et al. (2004) Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor. Am J Hum Genet 74:827-845.
53. Kivisild T, Bamshad MJ, Kaldma K, Metspalu M, Metspalu E, et al. (1999) Deep common ancestry of indian and western-Eurasian mitochondrial DNA lineages. Curr Biol 9:1331-1334.
54. Cordaux R, Saha N, Bentley GR, Aunger R, Sirajuddin SM, et al. (2003) Mitochondrial DNA analysis reveals diverse histories of tribal populations from India. Eur J Hum Genet 11: 253-264.
55. Derbeneva OA, Starikovskaya EB, Wallace DC, Sukernik Rl (2002) Traces of early Eurasians in the Mansi of northwest Siberia revealed by mitochondrial DNA analysis. Am J Hum Genet 70:1009-1014.
56. Richards M, Macaulay V, Hickey E, Vega E, Sykes B, et al. (2000) Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67:1251-1276.
57. Alvarez JC, Johnson DL, Lorente JA, Martinez-Espin E, Martinez-Gonzalez U, et al. (2007) Characterization of human control region sequences for Spanish individuals in a forensic mtDNA data set. Leg Med (Tokyo) 9: 293-304.
58. Fu Y, Zhao H, Cui Y, Zhang Q, Xu X, et al. (2007) Molecular genetic analysis of Wanggu remains,Inner Mongolia, China. Am J Phys Anthropol 132: 285-291.
59. Fu Y, Xie C, Xu X, Li C, Zhang Q, et al. (2008) Ancient DNA analysis of human remains from the upper capital city of Kublai Khan. Am J Phys Anthropol.
60. Gao SZ, Yang YD, Xu Y, Zhang QC, Zhu H, et al. (2007) Tracing the genetic history of the Chinese people: Mitochondrial DNA analysis of aneolithic population from the Lajia site. Am J Phys Anthropol 133:1128-1136.
61. Lalueza-Fox C, Sampietro ML, Gilbert MT, Castri L, Facchini F, et al. (2004) Unravelling migrations in the steppe: mitochondrial DNA sequences from ancient central Asians. Proc Biol Sci 271:941-947.
62. Tomory G, Csanyi B, Bogacsi-Szabo E, Kalmar T, Czibula A, et al. (2007) Comparison of maternal lineage and biogeographic analyses of ancient and modern Hungarian populations. Am J Phys Anthropol 134: 354-368.
63. Melchior L, Kivisild T, Lynnerup N, Dissing J (2008) Evidence of authentic DNA from Danish Viking Age skeletons untouched by humans for 1,000 years. PLoS ONE 3: e2214.
64. Gilbert MT, Binladen J, Miller W, Wiuf C, Willerslev E, et al. (2007) Recharacterization of ancient DNA miscoding lesions: insights in the era of sequencing-by-synthesis. Nucleic Acids Res 35:1-10.
65. Brotherton P, Endicott P, Sanchez JJ, Beaumont M, Barnett R, et al. (2007) Novel high-resolution characterization of ancient DNA reveals C > U-type base modification events as the sole cause of post mortem miscoding lesions. Nucleic Acids Res.
66. Kumar S, Tamura K, Nei M (1994) MEGA: Molecular Evolutionary Genetics Analysis software for microcomputers. Comput Appl Biosci 10: 189-191.
67. Gokcumen O, Dulik MC, Pai AA, Zhadanov SI, Rubinstein S, et al. (2008) Genetic variation in the enigmatic Altaian Kazakhs of South-Central Russia: insights into Turkic population history. Am J Phys Anthropol 136: 278-293.
68. Xu S, Jin L (2008) A Genome-wide Analysis of Admixture in Uyghurs and a High-Density Admixture Map for Disease-Gene Discovery. Am J Hum Genet.
69. Ricaut FX, Keyser-Tracqui C, Cammaert L, Crubezy E, Ludes B (2004) Genetic analysis and ethnic affinities from two Scytho-Siberian skeletons. Am J Phys Anthropol 123: 351-360.
70. Francalacci P (1995) DNA analysis of ancient desiccated corpses from Xinjiang. Indo Eur Stud 23: 385-398.
71. Wilson MR, Allard MW, Monson K, Miller KW, Budowle B (2002) Recommendations for consistent treatment of length variants in the human mitochondrial DNA control region. Forensic Sci Int 129: 35-42.
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40. Derenko MV, Grzybowski T, Malyarchuk BA, Dambueva IK, Denisova GA, et al. (2003) Diversity of mitochondrial DNA lineages in South Siberia. Ann Hum Genet 67:391-411.
41. Kong QP, Yao YG, Liu M, Shen SP, Chen C, et al. (2003) Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China. Hum Genet 113:391-405.
42. Kolman CJ, Sambuughin N, Bermingham E (1996) Mitochondrial DNA analysis of Mongolian populations and implications for the origin of New World founders. Genetics 142: 1321-1334.
43. Wen B, Li H, Lu D, Song X, Zhang F, et al. (2004) Genetic evidence supports demic diffusion of Han culture. Nature 431: 302-305.
44. Yao YG, Nie L, Harpending H, Fu YX, Yuan ZG, et al. (2002) Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversity. Am J Phys Anthropol 118:63-76.
45. Li H, Cai X, Winograd-Cort ER, Wen B, Cheng X, et al. (2007) Mitochondrial DNA diversity and population differentiation in southern East Asia. Am J Phys Anthropol 134:481-488.
46. Wen B, Xie X, Gao S, Li H, Shi H, et al. (2004) Analyses of genetic structure of Tibeto-Burman populations reveals sex-biased admixture in southern Tibeto-Burmans.Am J Hum Genet 74: 856-865.
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51. Comas D, Plaza S, Wells RS, Yuldaseva N, Lao O, et al. (2004) Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages. Eur J Hum Genet 12: 495-504.
52. Quintana-Murci L, Chaix R, Wells RS, Behar DM, Sayar H, et al. (2004) Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor. Am J Hum Genet 74: 827-845.
53. Kivisild T, Bamshad MJ, Kaldma K, Metspalu M, Metspalu E, et al. (1999) Deep common ancestry of indian and western-Eurasian mitochondrial DNA lineages. Curr Biol 9:1331-1334.
54. Cordaux R, Saha N, Bentley GR, Aunger R, Sirajuddin SM, et al. (2003) Mitochondrial DNA analysis reveals diverse histories of tribal populations from India. Eur J Hum Genet 11: 253-264.
55. Derbeneva OA, Starikovskaya EB, Wallace DC, Sukernik RI (2002) Traces of early Eurasians in the Mansi of northwest Siberia revealed by mitochondrial DNA analysis.Am J Hum Genet 70: 1009-1014.
56. Richards M, Macaulay V, Hickey E, Vega E, Sykes B, et al. (2000) Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67: 1251-1276.
57. Alvarez JC, Johnson DL, Lorente JA, Martinez-Espin E, Martinez-Gonzalez LJ, et al. (2007) Characterization of human control region sequences for Spanish individuals in a forensic mtDNA data set. Leg Med (Tokyo) 9: 293-304.
58. Fu Y, Zhao H, Cui Y, Zhang Q, Xu X, et al. (2007) Molecular genetic analysis of Wanggu remains, Inner Mongolia, China. Am J Phys Anthropol 132: 285-291.
59. Fu Y, Xie C, Xu X, Li C, Zhang Q, et al. (2008) Ancient DNA analysis of human remains from the upper capital city of Kublai Khan. Am J Phys Anthropol.
60. Gao SZ, Yang YD, Xu Y, Zhang QC, Zhu H, et al. (2007) Tracing the genetic history of the Chinese people: Mitochondrial DNA analysis of aneolithic population from the Lajia site. Am J Phys Anthropol 133: 1128-1136.
61. Ricaut FX, Keyser-Tracqui C, Cammaert L, Crubezy E, Ludes B (2004) Genetic analysis and ethnic affinities from two Scytho-Siberian skeletons. Am J Phys Anthropol 123:351-360.
62. Lalueza-Fox C, Sampietro ML, Gilbert MT, Castri L, Facchini F, et al. (2004) Unravelling migrations in the steppe: mitochondrial DNA sequences from ancient central Asians.Proc Biol Sci 271: 941-947.
63. Tomory G, Csanyi B, Bogacsi-Szabo E, Kalmar T, Czibula A, et al. (2007) Comparison of maternal lineage and biogeographic analyses of ancient and modern Hungarian populations. Am J Phys Anthropol 134: 354-368.
64. Melchior L, Kivisild T, Lynnerup N, Dissing J (2008) Evidence of authentic DNA from Danish Viking Age skeletons untouched by humans for 1,000 years. PLoS ONE 3:e2214.
65. Gilbert MT, Binladen J, Miller W, Wiuf C, Willerslev E, et al. (2007) Recharacterization of ancient DNA miscoding lesions: insights in the era of sequencing-by-synthesis.Nucleic Acids Res 35: 1-10.
66. Brotherton P, Endicott P, Sanchez JJ, Beaumont M, Barnett R, et al. (2007) Novel high-resolution characterization of ancient DNA reveals C > U-type base modification events as the sole cause of post mortem miscoding lesions. Nucleic Acids Res.
67. Kumar S, Tamura K, Nei M (1994) MEGA: Molecular Evolutionary Genetics Analysis software for microcomputers. Comput Appl Biosci 10: 189-191.
68. Gokcumen O, Dulik MC, Pai AA, Zhadanov SI, Rubinstein S, et al. (2008) Genetic variation in the enigmatic Altaian Kazakhs of South-Central Russia: insights into Turkic population history. Am J Phys Anthropol 136: 278-293.
69. Xu S, Jin L (2008) A Genome-wide Analysis of Admixture in Uyghurs and a High-Density Admixture Map for Disease-Gene Discovery. Am J Hum Genet.
70. Francalacci P (1995) DNA analysis of ancient desiccated corpses from Xinjiang. Indo Eur Stud 23: 385-398.
71. Wilson MR, Allard MW, Monson K, Miller KW, Budowle B (2002) Recommendations for consistent treatment of length variants in the human mitochondrial DNA control region.Forensic Sci Int 129: 35-42.
72. Bandelt HJ, Parson W (2008) Consistent treatment of length variants in the human mtDNA control region: a reappraisal. Int J Legal Med 122: 11-21.
73. Bo W, Hong S, Ling R, Huifeng X, Kaiyuan L, et al. (2004) The origin of Mosuo people as revealed by mtDNA and Y chromosome variation. Sci China C Life Sci 47: 1-10.
74. Mair VH (2004) The Beginnings of Sino-lndian Cultural Contact. Journal of Asian History 38: 81-96.
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68. Xu S, Jin L (2008) A Genome-wide Analysis of Admixture in Uyghurs and a High-Density Admixture Map for Disease-Gene Discovery. Am J Hum Genet.
69. Ricaut FX, Keyser-Tracqui C, Cammaert L, Crubezy E, Ludes B (2004) Genetic analysis and ethnic affinities from two Scytho-Siberian skeletons. Am J Phys Anthropol 123: 351-360.
70. Francalacci P (1995) DNA analysis of ancient desiccated corpses from Xinjiang. Indo Eur Stud 23: 385-398.
71. Wilson MR, Allard MW, Monson K, Miller KW, Budowle B (2002) Recommendations for consistent treatment of length variants in the human mitochondrial DNA control region. Forensic Sci Int 129: 35-42.
72. Bandelt HJ, Parson W (2008) Consistent treatment of length variants in the human mtDNA control region: a reappraisal. Int J Legal Med 122:11-21.
73. Bo W, Hong S, Ling R, Huifeng X, Kaiyuan L, et al. (2004) The origin of Mosuo people as revealed by mtDNA and Y chromosome variation. Sci China C Life Sci 47:1-10.
74. Mair VH (2004) The Beginnings of Sino-Indian Cultural Contact. Journal of Asian History 38: 81-96.