MtDNA and Y chromosome polymorphisms in Hungary: Inferences from the palaeolithic, neolithic and Uralic influences on the modern Hungarian gene pool

European Journal of Human Genetics

Volumn 8, Issue 5, 2000, Pages 339-346

  Semino, Ornella ^c   Passarino, Giuseppe ^c   Quintana Murci, Lluís ^c   Liu, Aiping ^c   Béres, Judit ^a   Czeizel, Andreas ^a   Santachiara Benerecetti, A Silvana ^b  

^a National Institute of Hygiene Budapest   (Hungary)

^b UNIVERSITY OF PAVIA   (Italy)

^c NONE

Author keywords

Hungary; mtDNA variations; Paloc; Y chromosome polymorphisms

Indexed keywords

MICROSATELLITE DNA; MITOCHONDRIAL DNA;

ARTICLE; CHROMOSOME POLYMORPHISM; ETHNIC GROUP; GENE POOL; HUMAN; HUMAN CELL; HUNGARY; MARKER GENE; NORMAL HUMAN; PHYSICAL ANTHROPOLOGY; PRIORITY JOURNAL; Y CHROMOSOME;

ALU ELEMENTS; DNA, MITOCHONDRIAL; ETHNIC GROUPS; FEMALE; GENE POOL; HAPLOTYPES; HUMANS; HUNGARY; MALE; PHYLOGENY; POLYMORPHISM, GENETIC; Y CHROMOSOME;

EID: 0034037537     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200468     Document Type: Article

References (60)

1. Cavalli-Sforza LL, Piazza A, Menozzi P, Mountain J: Reconstruction of human evolution: bringing together genetic, archaeological and linguistic data. Proc Natl Acad Sci USA 1988; 85: 6002-6006.
2. Sokal RR: Genetic, geographic and linguistic distances in Europe. Proc Natl Acad Sci USA 1988; 85: 1722-1726.
3. Czeizel A, Benkmann H-G, Goedde HW (eds): Genetics of the Hungarian Population. Springer Verlag, Berlin, 1991.
4. Guglielmino CR, Piazza A, Menozzi P, Cavalli-Sforza LL: Uralic genes in Lurope. Am J Phys Anthrop 1990; 83: 57-68.
5. Vilkki J, Savontaus ML, Nikoskelainen EK: Human mitochondrial DNA types in Finland. Hum Genet 1988; 80: 317-321.
6. Lahermo P, Sajantila A, Sistonen P et al: The genetic relationship between the Finns and Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA. Am J Hum Genet 1996; 58: 1309-1322.
7. Torroni A, Huoponen K, Francalacci P et al: Classification of European mtDNAs from an analysis of three European populations. Genetics 1996; 144: 1835-1850.
8. Torroni A, Bandelt H-J, D'Urbano L et al: mtDNA analysis reveals a major late paleolithic population expansion from southwestern to northeastern Europe. Am J Hum Genet 1998; 62: 1137-1152.
9. Jobling MA, Samara V, Pandya A et al : Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet 1996; 5: 1767-1775.
10. Zerjal T, Dashnyam B, Pandya A et al: Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am J Hum Genet 1997; 60: 1174-1183.
11. Kittles RA, Perola M, Peltonen L et al: Dual origins of Finns revealed by Y chromosome haplotype variation. Am J Hum Genet 1998; 67: 1171-1179.
12. Poloni ES, Semino O, Passarino G et al: Human genetic affinities for Y chromosome P49a,f/TaqI haplotypes show strong correspondence with linguistics. Am J Hum Genet 1997; 61: 1015-1035.
13. Passarino G, Semino O, Quintana-Murci L, Excoffier L, Hammer M, Santachiara-Benerecetti AS: Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms. Am J Hum Genet 1998; 62: 420-434.
14. Quintana-Murci L, Semino O, Poloni ES et al: Y-chromosome specific YCAII, DYS19 and YAP polymorphisms in human populations: a comparative study. Ann Hum Genet 1999; 63: 153-166.
15. Lahermo P, Savontaus M-L, Sistonen P et al: Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami. Eur J Hum Genet 1999; 7: 447-458.
16. Brega A, Gardella R, Semino O et al: Genetic studies on the Tharu population of Nepal: restriction endonuclease polymorphisms of mitochondrial DNA. Am J Hum Genet 1986; 39: 502-512.
17. Ballinger SW, Schurr TG, Torroni A et al: Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient Mongoloid migrations. Genetics 1992; 130: 139-152.
18. Lamminen T, Huoponen K, Sistonen P et al: MtDNA haplotype analysis in Finnish families with Leber hereditary optic neuroretinopathy. Eur J Hum Genet 1997; 5: 271-279.
19. Macaulay V, Richards M, Hickey E et al: The emerging tree of West Eurasian mtDNAs: A synthesis of control-region sequences and RFLPs. Am J Hum Genet 1999; 64: 232-249.
20. Ngo KY, Vergnaud G, Johnson C, Lucotte G, Weissenbach J: A DNA probe detecting multiple haplotypes of human Y chromosome. Am J Hum Genet 1986; 38: 407-418.
21. Casanova M, Leroy P, Boucekkine C et al: A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science 1985; 230: 1403-1406.
22. Semino O, Passarino G, Brega A, Fellous M, Santachiara-Benerecetti AS: A view of the Neolithic demie diffusion in Europe through two Y chromosome-specific markers. Am J Hum Genet 1996; 59: 964-968.
23. Hammer MF, Horai S: Y chromosomal DNA variation and the peopling of Japan. Am J Hum Genet 1995; 56: 951-962.
24. Roewer L, Arnemann J, Spurr NK, Grzeschik KH, Epplen JT: Simple repeat sequences on the human Y-chromosome are equally polymorphic as their autosomal counterpart. Hum Genet 1992; 89: 389-394.
25. Mathias N, Bayes M, Tyler-Smith C: Highly informative compound haplotypes for the human Y chromosome. Hum Mol Genet 1994; 3: 115-123.
26. Passarino G, Semino O, Bernini LF, Santachiara-Benerecetti AS: Pre-Caucasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisms. Am J Hum Genet 1996; 59: 927-934.
27. Torroni A, Sukernik RI, Schurr TG et al: MtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet 1993; 53: 591-608.
28. Bandelt H-J, Forster P, Sykes BC, Richards MB: Mitochondrial portraits of human populations using median networks. Genetics 1995; 14: 743-753.
29. Röhl A, Mihn DL: Network: a program package for calculating phylogenetic networks. Mathemathisches Seminar, University of Hamburg, 1997.
30. Otha T, Kimura M: The model of mutation appropriate to estimate the number of electrophoretically detectable alleles in genetic population. Genet Res 1973; 22: 201-204.
31. Spurdle AB, Hammer MF, Jenkins T: The Y Alu polymorphism in southern African populations and its relationship to other Y-specific polymorphisms. Am J Hum Genet 1994; 54: 319-330.
32. Johnson MJ, Wallace DC, Ferris SD, Rattazzi MC, Cavalli-Sforza LL: Radiation of human mitochondrial DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol 1983; 19: 255-271.
33. Torroni A, Miller JA, Moore LG et al: Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. Am J Phys Anthrop 1994; 93: 189-199.
34. Torroni A, Semino O, Scozzari R et al: Y Chromosome DNA polymorphisms in human populations: differences between Caucasoids and Africans detected by 49a,f probes. Ann Hum Genet 1990; 54: 287-296.
35. Persichetti F, Blasi P, Hammer M et al: Disequilibrium of multiple DNA markers on the human Y chromosome. Ann Hum Genet 1992; 56: 303-310.
36. Santachiara-Benerecetti AS, Semino O, Passarino G et al: The common, Near-Eastern origin of Ashkenazi and Sephardi Jews supported by Y-chromosome similarity. Ann Hum Genet 1993; 57: 55-64.
37. Jobling MA: A survey of long-range DNA polymorphisms on the human Y chromosome. Hum Mol Genet 1994; 3: 107-114.
38. Lucotte G, Hazout S: Y-chromosome DNA haplotypes in Basques. J Mol Evol 1994; 42: 472-475.
39. de Kniff P, Kayser M, Caglià A et al: Chromosome Y microsatellites: population genetic and evolutionary aspects. Int J Legal Med 1997; 110: 134-140.
40. Roewer L, Kayser M, Dieltjes P et al: Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations. Hum Mol Genet 1996; 5: 1029-1033.
41. Kayser M, Caglià A, Corach D et al: Evaluation of chromosomal STRs: a multicenter study. Int J Legal Med 1997; 110: 125-133.
42. Muller S, Gomolka M, Walter H: The Y-specific SSLP of the locus DYS19 in four different European samples. Hum Hered 1994; 44: 298-300.
43. Gomolka M, Hundrieses J, Nurnberg P, Roewer L, Epplen JT, Epplen C: Selected di- and tetranucleotide microsatellites from chromosomes 7, 12, 14, and Y in various Eurasian populations. Hum Genet 1994; 93: 592-596.
44. Ciminelli BM, Pompei H, Malaspina P et al: Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations. J Mol Evol 1995; 41: 966-973.
45. Santachiara-Benerecetti AS, Semino O: Y-chromosome polymorphisms and history of populations. Cell Pharmacol 1996; 3: 199-204.
46. Malaspina P, Cruciani F, Ciminelli BM et al: Network analyses of Y-chromosomal types in Europe, northern Africa, and western Asia reveal specific patterns of geographic distribution. Am J Hum Genet 1998; 63: 847-860.
47. Lys intergenic 9bp deletion and other mtDNA markers clearly reveal that the Tharus (Southern Nepal) have oriental affinities. Am J Hum Genet 1993; 53: 609-618.
48. Soodyall H, Vigilant E, Hill AV, Stoneking M, Jenkins T: mtDNA control region sequence variation suggests multiple independent origins of an 'Asian-specific' 9-bp deletion in sub-Saharan Africans. Am J Hum Genet 1996; 58: 595-608.
49. Quintana-Murci L, Semino O, Minch E, Brega A, Santachiara-Benerecetti AS: Further characteristics of proto-European Y-chromosomes. Eur J Hum Genet 1999; 7: 603-608.
50. Brinkmann B, Klintschar M, Neuhuber F, Huhne J, Rolf B: Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 1998; 62: 1408-1415.
51. Otte M: The North-Western European plain around 18 000 BC. In: Softer O, Gamble C (eds). The World at 18 000 B.P. Unwin Hyman: London, 1990, vol 1, pp 54-68.
52. Cavalli-Sforza LL, Menozzi P, Piazza A: The History and Geography of Human Genes. Princeton University Press: Princeton, NJ, 1994.
53. Gimbutas M: Proto-Indo-European culture: The Kurgan culture during the fifth, fourth and third millennia BC. In: Cardona G, Hoenigswald HM, Senn AM (eds). Indo-European and Indo-Europeans. University of Pensiylvania Press: Philadelphia, 1970.
54. Renfrew C: Archaeology and language; the puzzle of Indo-European origin. Jonathan Cape: London, 1987.
55. Gimbutas M: The civilization of the goddess: The world of Old Europe. Harper: San Francisco, 1991.
56. Piazza A: Who are Europeans? Science 1993; 260: 1767-1769.
57. Zvelebil M: The rise of the nomads in Central Asia. In: A Sherrat (eds). The Cambridge Encyclopedia of Archeology. Crown: New York, 1980.
58. Torroni A, Petrozzi M, D'Urbano L et al: Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 1997; 60: 1107-1121.
59. Hammer MF: A recent insertion of an Alu element on the Y chromosome is a useful marker for human population studies. Mol Biol Evol 1994; 11: 749-761.
60. Brega A, Torroni A, Semino O et al: The p12f2/TaqI Y-specific polymorphism in three groups of Italians and in a sample of Senegalese. Gene Geog 1987; 1: 201-206.