The peopling of Korea revealed by analyses of mitochondrial DNA and Y-chromosomal markers

PLoS ONE

Volumn 4, Issue 1, 2009, Pages

  Jin, Han Jun ^a,b   Tyler Smith, Chris ^b   Kim, Wook ^a  

^a Dankook University   (South Korea)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; ASIAN; CHINESE; CHROMOSOME MARKER; CONTROLLED STUDY; DNA SEQUENCE; GENE EXPRESSION PROFILING; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; KOREA; MOLECULAR EVOLUTION; MONGOLIA; NUCLEOTIDE SEQUENCE; PHYLOGENY; RACE DIFFERENCE; SEQUENCE HOMOLOGY; THAILAND; UNINDEXED SEQUENCE; Y CHROMOSOME; GENETIC MARKER; GENETICS; MALE; MIGRATION; POPULATION GENETICS;

THAIS;

CHROMOSOMES, HUMAN, Y; DNA, MITOCHONDRIAL; EMIGRATION AND IMMIGRATION; GENETIC MARKERS; GENETICS, POPULATION; HUMANS; KOREA; MALE;

EID: 62649157941     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0004210     Document Type: Article

References (66)

1. Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The History and Geography of Human Genes. Princeton: Princeton University Press.
2. Turner CG (1990) Major features of sundadonty and sinodonty, including suggestions about east Asian microevolution, population history and late Pleistocene relationships with Australian aboriginals. Am J Phys Anthropol 82: 295-317.
3. Chu JY, Huang W, Kuang SQ, Wang JM, Xu JJ, et al. (1998) Genetic relationship of populations in China. Proc Natl Acad Sci USA 95: 11763-11768.
4. Su B, Xiao J, Underhill P, Deka R, Zhang W, et al. (1999) Y-chromosome evidence for a northward migration of modern humans into eastern Asia during the last Ice Age. Am J Hum Genet 65: 1718-1724.
5. Nei M, Roychoudhury AK (1993) Evolutionary relationships of human populations on a global scale. Mol Biol Evol 10: 927-943.
6. 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.
7. Kim K (1970) People and language. In: Korea - Its People and Cultures. Seoul: Hakwon-sa Ltd.
8. Choi ML, Rhee SN (2001) Korean archaeology for the 21st century: from prehistory to State formation. Seoul J Kor Studies 14: 117-147.
9. Goedde HW, Paik YK, Lee CC, Benkmann HG, Kriese L, et al. (1987) Red cell and serum protein polymorphisms in three population groups of south Korea. Gene Geogr 1: 177-188.
10. Saha N, Tay JSH (1992) Origin of the Koreans: a population genetic study. Am J Phys Anthropol 88: 27-36.
11. Hong SS, Suh JA, Chae JJ, Goh SH, Kim YS, et al. (1993) Frequency distribution of alleles at D1S80 and apo-B 3′ VNTR loci in Korean population. Mol Cells 3: 457-453.
12. Kim W, Shin DJ, Harihara S, Kim YJ (2000) Y chromosomal DNA variation in East Asian populations and its potential for inferring the peopling of Korea. J Hum Genet 45: 76-83.
13. Jin HJ, Kwak KD, Hammer MF, Nakahori Y, Shinka T, et al. (2003) Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans. Hum Genet 114: 27-35.
14. Giles RE, Blanc H, Cann HM, Wallace DC (1980) Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A 77: 6715-6719.
15. Wallace DC, Brown MD, Lott MT (1999) Mitochondrial DNA variation in human evolution and disease. Gene 238: 211-230.
16. Cavalli-Sforza LL, Feldman MW (2003) The application of molecular genetic approaches to the study of human evolution. Nat Get 33: 266-275.
17. Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4: 598-612.
18. Underhill PA, Kivisild T (2007) Use of Y chromosome and mitochondrial DNA population structure in tracing human migrations. Annu Rev Genet 41: 539-564.
19. Yao YG, Kong QP, Bandelt HJ, Kivisild T, Zhang YP (2002) Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet 70: 635-651.
20. 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.
21. Tanaka M, Cabrera VM, González AM, Larruga JM, Takeyasu T, et al. (2004) Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 14: 1832-1850.
22. Kwak KD, Jin HJ, Shin DJ, Kim JM, Roewer L, et al. (2005) Y-chromosomal STR haplotypes and their applications to forensic and population studies in east Asia. Int J Legal Med 119: 195-201.
23. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular Cloning: a Laboratory Manual, 2nd edn. New York: Cold Spring Harbor Laboratory Press.
24. Richards B, Skoletsky J, Shuber AP, Balfour R, Stern RC, et al. (1993) Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet 2: 159-163.
25. 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.
26. Maruyama S, Minaguchi K, Saitou N (2003) Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population. Int J Legal Med 117: 218-225.
27. Wen B, Li H, Gao S, Mao X, Gao Y, Li F, et al. (2005) Genetic structure of Hmong-Mien speaking populations in East Asia as revealed by mtDNA lineages. Mol Biol Evol 22: 725-734.
28. Zhang YJ, Xu QS, Zheng ZJ, Lin HY, Lee JB (2005) Haplotype diversity in mitochondrial DNA hypervariable region I, II and III in northeast China Han. Forensic Sci Int 149: 267-269.
29. Hong SB, Jin HJ, Kwak KD, Kim W (2006) Y-chromosome Haplogroup O3-M122 Variation in East Asia and Implications for the Peopling of Korea. Korean J Genetics 28: 1-8.
30. Lee HY, Yoo JE, Park MJ, Chung U, Shin KJ (2006) Mitochondrial DNA control region sequences in Koreans: identification of useful variable sites and phylogenetic analysis for mtDNA data quality control. Int J Legal Med 120: 5-14.
31. Xue Y, Zerjal T, Bao W, Zhu S, Shu Q (2006) Male demography in East Asia: a north-south contrast in human population expansion times. Genetics 172: 2431-2439.
32. Yong RY, Lee LK, Yap EP (2006) Y-chromosome STR haplotype diversity in three ethnic populations in Singapore. Forensic Sci Int 159: 244-257.
33. Zhang Q, Yan J, Tang H, Jiao Z, Liu Y (2006) Genetic polymorphisms of 17 Y-STRs haplotypes in Tibetan ethnic minority group of China. Leg Med (Tokyo) 8: 300-305.
34. Hara M, Kido A, Takada A, Adachi N, Saito K (2007) Genetic data for 16 Y-chromosomal STR loci in Japanese. Leg Med (Tokyo) 9: 161-170.
35. Hwang JH, Lee H, Lee YA, Han MS, Kim W, et al. (2007) Haplotypes for 12 Y-chromosomal STR loci in a Korean population (the central region). Forensic Sci Int 168: 73-84.
36. 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.
37. Powell GT, Yang H, Tyler-Smith C, Xue Y (2007) The population history of the Xibe in northern China: a comparison of autosomal, mtDNA and Y-chromosomal analyses of migration and gene flow. FSI Genetics 1: 115-119.
38. Yan J, Tang H, Liu Y, Jing Y, Jiao Z, et al. (2007) Genetic polymorphisms of 17 Y-STRs haplotypes in Chinese Han population residing in Shandong province of China. Leg Med (Tokyo) 9: 196-202.
39. Zhang Y, Zhang H, Cui Y, Cui H, Xu Q (2007) Population genetics for Y-chromosomal STRs haplotypes of Chinese Korean ethnic group in northeastern China. Forensic Sci Int 173: 197-203.
40. Huang TY, Hsu YT, Li JM, Chung JH, Shun CT (2008) Polymorphism of 17 Y-STR loci in Taiwan population. Forensic Sci Int 174: 249-254.
41. 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.
42. Lys region in East Asian populations. Korean J Biol Sci 3: 393-397.
43. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, et al. (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23: 147.
44. 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.
45. Torroni A, Achilli A, Macaulay V, Richards M, Bandelt HJ (2006) Harvesting the fruit of the human mtDNA tree. Trends Genet 22: 339-345.
46. Bandelt HJ, Quintana-Murci L, Salas A, Macaulay V (2002) The fingerprint of phantom mutations in mitochondrial DNA data. Am J Hum Genet 71: 1150-1160.
47. Brandstätter A, Klein R, Duftner N, Wiegand P, Parson W, et al. (2006) Application of a quasi-median network analysis for the visualization of character conflicts to a population sample of mitochondrial DNA control region sequences from southern Germany (Ulm). Int J Legal Med 120: 310-314.
48. Excoffier L, Smouse PE, Quattro JM (1992) Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics 131: 479-491.
49. Schneider S, Roessli D, Excoffier L (2000) Arlequin: a softwere for population genetics data analysis, Ver. 2.000, Genetics and Biometry Lab, Department of Anthropology, University of Geneva.
50. Bandelt HJ, Forster P, Röhl A (1999) Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 16: 37-48.
51. Qamar R, Ayub Q, Mohyuddin A, Helgason A, Mazhar K, et al. (2002) Y-chromosomal DNA variation in Pakistan. Am J Hum Genet 70: 1107-1124.
52. Bandelt HJ, Forster P, Sykes BC, Richards MB (1995) Mitochondrial portraits of human populations using median networks. Genetics 141: 743-753.
53. Zalloua PA, Xue Y, Khalife J, Makhoul N, Debiane L (2008) Y-chromosomal diversity in Lebanon is structured by recent historical events. Am J Hum Genet 82: 873-882.
54. Dupanloup I, Bertorelle G (2001) Inferring admixture proportions from molecular data: expansion to any number of parental populations. Mol Biol Evol 18: 672-675.
55. 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.
56. Derenko MV, Lunkina AV, Malyarchuk BA, Zakharov IA, Tsedev Ts, et al. (2004) Restriction polymorphism of mitochondrial DNA in Koreans and Mongoilians. Russian J Genet 40: 1562-1570.
57. Starikovskaya EB, Sukernik RI, Derbeneva OA, Volodko NV, Ruiz-Pesini E, et al. (2005) Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups. Ann Hum Genet 69: 67-89.
58. Quintana-Murci L, Quach H, Harmant C, Luca F, Massonnet B, et al. (2008) Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers. Proc Natl Acad Sci U S A 105: 1596-1601.
59. 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.
60. Marrero AR, Bravi C, Stuart S, Long JC, Pereira das Neves Leite F, et al. (2007) Pre- and post-Columbian gene and cultural continuity: the case of the Gaucho from southern Brazil. Hum Hered 64: 160-171.
61. Han YH (1995) Altai and the Korean Peninsula from the Perspective of Archaeological Remains. Seoul: Korea National Museum.
62. Wells S (2002) The Journey of Man: A Genetic Odyssey. Princeton: Princeton University Press.
63. Underhill PA (2003) Inferring human history: clues from Y-chromosome haplotypes. Cold Spring Harb Symp Quant Biol 68: 487-493.
64. Shi H, Dong YL, Wen B, Xiao CJ, Underhill PA, et al. (2005) Y-chromosome evidence of southern origin of the East Asian-specific haplogroup O3-M122. Am J Hum Genet 77: 408-419.
65. Hammer MF, Karafet TM, Park H, Omoto K, Harihara S, et al. (2006) Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes. J Hum Genet 51: 47-58.
66. Sokal RR, Thompson BA (1998) Spatial genetic structure of human populations in Japan. Hum Biol 70: 1-22.