Y-chromosomal STR haplotypes and their applications to forensic and population studies in east Asia

International Journal of Legal Medicine

Volumn 119, Issue 4, 2005, Pages 195-201

  Kwak, Kyoung Don ^a   Jin, Han Jun ^a   Shin, Dong Jik ^a   Kim, Jung Min ^a   Roewer, Lutz ^b   Krawczak, Michael ^c   Tyler Smith, Chris ^d   Kim, Wook ^a  

^a Dankook University   (South Korea)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY OF KIEL   (Germany)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

East Asia; Forensic genetics; Phylogeny; STRs; Y chromosome

Indexed keywords

ARTICLE; ASIA; CHINA; CONTROLLED STUDY; EVALUATION; FORENSIC IDENTIFICATION; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; LEGAL ASPECT; MALE; MIGRATION; POPULATION RESEARCH; PRIORITY JOURNAL; Y CHROMOSOME;

ASIA, SOUTHEASTERN; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMES, HUMAN, Y; DNA FINGERPRINTING; FAR EAST; GENETICS, POPULATION; HAPLOTYPES; HUMANS; MALE; PATERNITY; PHYLOGENY; TANDEM REPEAT SEQUENCES;

EID: 21744451801     PISSN: 09379827     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00414-004-0518-4     Document Type: Article

References (54)

1. Butler JM, Schoske R, Vallone PM, Kline MC, Redd AJ, Hammer MF (2002) A novel multiplex for simultaneous amplification of 20 Y chromosome STR markers. Forensic Sci Int 129:10-24
2. Cali F, Forster P, Kersting C, Mirisola MG, D'Anna R, De Leo G, Romano V (2002) DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting. Int J Leg Med 116:133-138
3. Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The history and geography of human genes. Princeton University Press, Princeton
4. Chakravarti A, Li CC (1983) The probability of exclusion based on the HLA locus. Am J Hum Genet 35:1048-1052
5. Chen H, Lowther W, Avramopoulos D, Antonarakis SE (1994) Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes. Hum Mutat 4:208-211
6. Chu JY, Huang W, Kuang SQ, Wang JM, Xu JJ, Chu ZT, Yang ZQ, Lin KQ, Li P, Wu M, Geng ZC, Tan CC, Du RF, Jin L (1998) Genetic relationship of populations in China. Proc Natl Acad Sci U S A 95:11763-11768
7. Ding YC, Wooding S, Harpending HC, Chi HC, Li HP, Fu YX, Pang JF, Yao YG, Yu JG, Moyzis R, Zhang Y (2000) Population structure and history in East Asia. Proc Natl Acad Sci U S A 97:14003-14006
8. Du R, Yip VF (1993) Ethnic groups in China. Science Press, Beijing
9. Edwards A, Hammond HA, Jin L, Caskey CT, Chakraborty R (1992) Genetic variation at five trimeric and tetrameric tandem loci in four human population groups. Genomics 12:241-253
10. Excoffier L, Smouse P (1994) Using allele frequencies and geographic subdivision to reconstruct gene trees within a species: molecular variance parsimony. Genetics 136:343-359
11. Excoffier L, Smouse P, Quattro J (1992) Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics 131:479-491
12. Felsenstein J (1995) PHYLIP (phylogeny inference package) version 3.57c. Department of Genetics, University of Washington, Seattle
13. Gené M, Borrego N, Xifró A, Piqué E, Moreno P (1999) Haplotype frequencies of eight Y-chromosome STR loci in Barcelona (north-east Spain). Int J Leg Med 112:403-405
14. Gill P, Brenner C, Brinkmann B et al. (2001) DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs. Int J Leg Med 114:305-309
15. Hammer MF (1995) A recent common ancestry for human Y chromosomes. Nature 378:376-378
16. Hammer MF, Horai S (1995) Y chromosomal DNA variation and the peopling of Japan. Am J Hum Genet 56:951-962
17. Hammer MF, Zegura SL (1996) The role of the Y chromosome in human evolutionary studies. Evol Anthropol 5:116-134
18. Hammer MF, Spurdle AB, Karafet T, Bonner MR, Wood ET, Novelletto A, Malaspina P, Mitchell RJ, Horai S, Jenkins T, Zegura SL (1997) The geographic distribution of human Y chromosome variation. Genetics 145:787-805
19. Hammond HA, Jin L, Zhong Y, Caskey CT, Chakraborty R (1994) Evaluation of 13 short tandem repeat loci for use in personal identification applications. Am J Hum Genet 55:175-189
20. Helgason A, Siguroardóttir S, Nicholson J, Sykes B, Hill EW, Bradley DG, Bosnes V, Gulcher JR, Ward R, Stefánsson K (2000) Estimating Scandinavian and Galic ancestry in the male settlers of Iceland. Am J Hum Genet 67:697-717
21. Horai S, Murayama K, Hayasaka K, Matsubayashi S, Hattori Y, Fucharoen G, Harihara S, Park KS, Omoto K, Pan IH (1996) mtDNA polymorphism in East Asian populations, with special reference to the peopling of Japan. Am J Hum Genet 59:579-590
22. Jin HJ, Kwak KD, Hammer MF, Nakahori Y, Shinka T, Lee JW, Jin F, Jia X, Tyler-Smith C, Kim W (2003) Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans. Hum Genet 114:27-35
23. Jobling MA, Tyler-Smith C (1995) Fathers and sons: the Y chromosome and human evolution. Trends Genet 11:449-456
24. Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598-612
25. Karafet T, Xu L, Du R, Wang W, Feng S, Wells RS, Redd AJ, Zegura SL, Hammer MF (2001) Paternal population history of east Asia: sources, patterns, and microevolutionary processes. Am J Hum Genet 69:615-628
26. Kayser M, Caglia A, Corach D, Fertwell N, Gehrig C, Graziosi G, Heidorn F, Herrmann S, Herzog B, Hidding M, Honda K, Jobling M, Krawczak M, Leim K, Meuser S, Meyer E, Oesterreich W, Pandya A, Parson W, Penacino G, Perez-Lezaun A, Piccinini A, Prinz M, Schmitt C, Schneider PM, Szibor R, Teifel-Greding J, Weichhold G, Knijff PD, Roewer L (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Leg Med 110:125-133
27. Kayser M, Krawczak M, Excoffier L, Dieltjes P, Corach D, Pascali V, Gehrig C, Bernini LF, Jespersen J, Bakker E, Roewer L, de Knijff P (2001) An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations. Am J Hum Genet 68:990-1018
28. 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
29. Kivisild T, Tolk HV, Parik J, Wang Y, Papiha SS, Bandelt HJ, Villems R (2002) The emerging limbs and twigs of the east Asian mtDNA tree. Mol Biol Evol 19:1737-1751
30. de Knijff P, Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorn F, Herrmann S, Herzog B, Kidding M, Honda K, Jobling M, Krawczak M, Leim K, Meuser S, Meyer E, Oesterreich W, Pandya A, Parson W, Penacino G, Perez-Lezaun A, Piccinini A, Prinz M, Roewer L (1997) Chromosome Y micro satellites: population genetic and evolutionary aspects. Int J Leg Med 110:134-149
31. Lessig R, Willuweit S, Krawczak M, Wu F-C, Pu C-E, Kim W, Henke L, Henke J, Miranda J, Kidding M, Benecke M, Schmitt C, Magno M., Calacal G, Delfin FC, De Ungria MCA, Elias S, Augustin C, Tun Z, Honda K, Kayser M, Gusmao L, Amorim A, Alves C, Hou Y, Keyser C, Ludes B, Roewer L (2003) Asian online Y-STR haplotype reference database. Legal Med 5:160-163
32. Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New York
33. Nei M, Roychoudhury AK (1993) Evolutionary relationships of human populations on a global scale. Mol Biol Evol 10:927-943
34. Niederstätter H, Berger B, Oberacher H, Brandstätter A, Huber CG, Parson W (2004) Separate analysis of DYS385a and b versus conventional DYS385 typing: is there forensic relevance? Int J Leg Med (Epub ahead of print)
35. Pakendorf B, Morar B, Tarskaia LA, Kayser M, Soodyall H, Rodewald A, Stoneking M (2002) Y-chromosomal evidence for a strong reduction in male population size of Yakuts. Hum Genet 110:198-200
36. Richards B, Skoletsky J, Shuber AP, Balfour R, Stern RC, Dorkin HL, Parad RB, Witt D, Klinger KW (1993) Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet 2:159-163
37. Roewer L, Kayser M, Dieltjes P, Nagy M, Bakker E, Krawczak M, de Knijff P (1996) Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations. Hum Mol Genet 5:1029-1033
38. Roewer L, Krawczak M, Willuweit S, Nagy M, Alves C, Amorim A, Anslinger K, Augustin C, Betz A, Bosch E, Caglia A, Carracedo A, Corach D, Dekairelle AF, Dobosz T, Dupuy BM, Furedi S, Gehrig C, Gusmao L, Henke J, Henke L, Kidding M, Hohoff C, Koste B, Jobling MA, Kargel HJ, de Knijff P, Lessig R, Liebeherr E, Lorente M, Martinez-Jarreta B, Nievas P, Nowak M, Parson W, Pascali VL, Penacino G, Ploski R, Rolf B, Sala A, Schmidt U, Schmitt C, Schneider PM, Szibor R, Teifel-Greding J, Kayser M (2001) Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci Int 118:106-113
39. Ruhlen M (1991) Postscript. In: Guide to the world's languages (ed. M. Ruhlen), pp. 379-407. Stanford University Press, Stanford, CA
40. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: A laboratory manual, 2nd edn. Cold Spring Harbor Laboratory Press, New York
41. Santos FR, Tyler-Smith C (1996) Reading the human Y chromosome: the emerging DNA markers and human genetic history. Braz J Genet 19:665-670
42. Schneider PM, Meuser S, Waiyawuth W, Seo Y, Rittner C (1998) Tandem repeat structure of the duplicated Y-chromosomal STR locus DYS385A/B and frequency studies in the German and three Asian populations. Forensic Sci Int 97:61-70
43. Schneider S, Roessli D, Excoffier L (2000) Arlequin v. 2.000: a software for population genetics data analysis. Genetics and Biometry Laboratory, University of Geneva, Geneva, Switzerland
44. Sensabaugh GF (1982) Isozymes in forensic science. Isozymes Curr Top Biol Med Res 6:247-282
45. Shin DJ, Jin HJ, Kwak KD, Choi JW, Han MS, Kang PW, Choi SK, Kim W (2001) Y-chromosome multiplexes and their potential for the DNA profiling of Koreans. Int J Leg Med 115:109-117
46. Su B, Xiao J, Underhill P, Deka R, Zhang W, Akey J, Huang W, Shen D, Lu D, Chu J, Tan J, Shen P, Davis R, Cavalli-Sforza LL, Chakraborty R, Xiong M, Du R, Oefner P, Chen Z, Jin L (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
47. Tang JP, Hou YP, Li YB, Wu J, Zhang J, Zhang HJ (2003) Characterization of eight Y-STR loci and haplotypes in a Chinese Han population. Int J Leg Med 117:263-270
48. Tsai L-C, Yuen T-Y, Hsieh H-M, Lin M, Tzeng C-H, Huang N-W, Linacre A, Lee JG-I (2002) Haplotype frequencies of nine Y-chromosome STR loci in the Taiwanese Han population. Int J Leg Med 116:179-183
49. 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
50. Uchihi R, Yamamoto T, Usuda K, Yoshimoto T, Tanaka M, Tokunaga S, Kurihara R, Tokunaga K, Katsumata Y (2003) Haplotype analysis with 14 Y-STR loci using 2 multiplex amplification and typing systems in 2 regional populations in Japan. Int J Leg Med 117:34-38
51. Underhill PA, Passarino G, Lin AA, Shen P, Lahr MM, Foley RA, Oeffner PJ, Cavalli-Sforza LL (2001) The phylogeography of Y-chromosome binary haplotypes and the origins of modern human populations. Ann Hum Genet 65:43-62
52. Yao Y-G, Kong Q-P, Bandelt H-J, Kivisild T, Zhang Y-P (2002a) Phylogenetic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet 70:635-651
53. Yao Y-G, Nie L, Harpending H, Fu Y-X, Yuan Z-G, Zhang Y-P (2002b) Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversity. Am J Phys Anthropol 118:63-76
54. 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