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PMID: 11078479 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language.

American journal of human genetics ·Vol. 67 ·No. 6 ·2000-12-00 ·Pages 1526-43

Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G, Beckman G, Beckman L, Bertranpetit J, Bosch E, Bradley DG, Brede G, Cooper G, Côrte-Real HB, de Knijff P, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Gölge M, Hill EW, Jeziorowska A, Kalaydjieva L, Kayser M, Kivisild T, Kravchenko SA, Krumina A, Kucinskas V, Lavinha J, Livshits LA, Malaspina P, Maria S, McElreavey K, Meitinger TA, Mikelsaar AV, Mitchell RJ, Nafa K, Nicholson J, Nørby S, Pandya A, Parik J, Patsalis PC, Pereira L, Peterlin B, Pielberg G, Prata MJ, Previderé C, Roewer L, Rootsi S, Rubinsztein DC, Saillard J, Santos FR, Stefanescu G, Sykes BC, Tolun A, Villems R, Tyler-Smith C, Jobling MA

Abstract

Clinal patterns of autosomal genetic diversity within Europe have been interpreted in previous studies in terms of a Neolithic demic diffusion model for the spread of agriculture; in contrast, studies using mtDNA have traced many founding lineages to the Paleolithic and have not shown strongly clinal variation. We have used 11 human Y-chromosomal biallelic polymorphisms, defining 10 haplogroups, to analyze a sample of 3,616 Y chromosomes belonging to 47 European and circum-European populations. Patterns of geographic differentiation are highly nonrandom, and, when they are assessed using spatial autocorrelation analysis, they show significant clines for five of six haplogroups analyzed. Clines for two haplogroups, representing 45% of the chromosomes, are continentwide and consistent with the demic diffusion hypothesis. Clines for three other haplogroups each have different foci and are more regionally restricted and are likely to reflect distinct population movements, including one from north of the Black Sea. Principal-components analysis suggests that populations are related primarily on the basis of geography, rather than on the basis of linguistic affinity. This is confirmed in Mantel tests, which show a strong and highly significant partial correlation between genetics and geography but a low, nonsignificant partial correlation between genetics and language. Genetic-barrier analysis also indicates the primacy of geography in the shaping of patterns of variation. These patterns retain a strong signal of expansion from the Near East but also suggest that the demographic history of Europe has been complex and influenced by other major population movements, as well as by linguistic and geographic heterogeneities and the effects of drift.

MeSH Terms
Africa, Northern Alleles Emigration and Immigration Europe Gene Frequency/genetics Genetic Markers/genetics Genetic Variation/genetics Geography Haplotypes/genetics Humans Language Linguistics Male Models, Genetic Oceans and Seas Phylogeny Polymorphism, Genetic/genetics Y Chromosome/genetics
Chemicals
Genetic Markers
Authors & Affiliations
63 authors, click to expand affiliations / ORCID
Rosser Z H
Department of Genetics, University of Leicester, Leicester LE1 7RH, United Kingdom.
Zerjal T
Hurles M E
Adojaan M
Alavantic D
Amorim A
Amos W
Armenteros M
Arroyo E
Barbujani G
Beckman G
Beckman L
Bertranpetit J
Bosch E
Bradley D G
Brede G
Cooper G
Côrte-Real H B
de Knijff P
Decorte R
Dubrova Y E
Evgrafov O
Gilissen A
Glisic S
Gölge M
Hill E W
Jeziorowska A
Kalaydjieva L
Kayser M
Kivisild T
Kravchenko S A
Krumina A
Kucinskas V
Lavinha J
Livshits L A
Malaspina P
Maria S
McElreavey K
Meitinger T A
Mikelsaar A V
Mitchell R J
Nafa K
Nicholson J
Nørby S
Pandya A
Parik J
Patsalis P C
Pereira L
Peterlin B
Pielberg G
Prata M J
Previderé C
Roewer L
Rootsi S
Rubinsztein D C
Saillard J
Santos F R
Stefanescu G
Sykes B C
Tolun A
Villems R
Tyler-Smith C
Jobling M A
References (55)
55 references, click to expand
  1. Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees.
    Hum Mol Genet. 1997 May;6(5):799-803 PMID: 9158156
  2. Y-chromosome variation and Irish origins.
    Nature. 2000 Mar 23;404(6776):351-2 PMID: 10746711
  3. Mitochondrial DNA variation and the origin of the Europeans.
    Hum Genet. 1997 Apr;99(4):443-9 PMID: 9099831
  4. The detection of disease clustering and a generalized regression approach.
    Cancer Res. 1967 Feb;27(2):209-20 PMID: 6018555
  5. Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes.
    Proc Natl Acad Sci U S A. 2000 Jun 6;97(12):6769-74 PMID: 10801975
  6. European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA.
    Am J Hum Genet. 1998 Dec;63(6):1793-806 PMID: 9837833
  7. Clinal variation in the nuclear DNA of Europeans.
    Hum Biol. 1998 Aug;70(4):643-57 PMID: 9686478
  8. Human genetic affinities for Y-chromosome P49a,f/TaqI haplotypes show strong correspondence with linguistics.
    Am J Hum Genet. 1997 Nov;61(5):1015-35 PMID: 9346874
  9. Genetic evidence for a higher female migration rate in humans.
    Nat Genet. 1998 Nov;20(3):278-80 PMID: 9806547
  10. Highly informative compound haplotypes for the human Y chromosome.
    Hum Mol Genet. 1994 Jan;3(1):115-23 PMID: 7909247
  11. Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis.
    Am J Hum Genet. 1997 May;60(5):1174-83 PMID: 9150165
  12. A recent insertion of an alu element on the Y chromosome is a useful marker for human population studies.
    Mol Biol Evol. 1994 Sep;11(5):749-61 PMID: 7968488
  13. New uses for new haplotypes the human Y chromosome, disease and selection.
    Trends Genet. 2000 Aug;16(8):356-62 PMID: 10904265
  14. A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance.
    Science. 1985 Dec 20;230(4732):1403-6 PMID: 2999986
  15. Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs.
    Am J Hum Genet. 2000 May;66(5):1580-8 PMID: 10762544
  16. mtDNA haplogroups and frequency patterns in Europe.
    Am J Hum Genet. 2000 Mar;66(3):1173-7 PMID: 10712231
  17. Mapping genes underlying ethnic differences in disease risk by linkage disequilibrium in recently admixed populations.
    Am J Hum Genet. 1997 Jan;60(1):188-96 PMID: 8981962
  18. Genetic variation in North Africa and Eurasia: neolithic demic diffusion vs. Paleolithic colonisation.
    Am J Phys Anthropol. 1994 Oct;95(2):137-54 PMID: 7802092
  19. Origin of Amerindian Y-chromosomes as inferred by the analysis of six polymorphic markers.
    Am J Phys Anthropol. 1997 Jan;102(1):79-89 PMID: 9034040
  20. Genetic evidence for the spread of agriculture in Europe by demic diffusion.
    Nature. 1991 May 9;351(6322):143-5 PMID: 2030731
  21. Fathers and sons: the Y chromosome and human evolution.
    Trends Genet. 1995 Nov;11(11):449-56 PMID: 8578602
  22. Network analyses of Y-chromosomal types in Europe, northern Africa, and western Asia reveal specific patterns of geographic distribution.
    Am J Hum Genet. 1998 Sep;63(3):847-60 PMID: 9718330
  23. Network analysis of human Y microsatellite haplotypes.
    Hum Mol Genet. 1996 Nov;5(11):1759-66 PMID: 8923004
  24. Paleolithic and neolithic lineages in the European mitochondrial gene pool.
    Am J Hum Genet. 1996 Jul;59(1):185-203 PMID: 8659525
  25. Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.
    J Med Genet. 1996 Jun;33(6):465-8 PMID: 8782045
  26. What do languages tell us about human microevolution?
    Trends Ecol Evol. 1991 May;6(5):151-6 PMID: 21232445
  27. Clines of nuclear DNA markers suggest a largely neolithic ancestry of the European gene pool.
    Proc Natl Acad Sci U S A. 1998 Jul 21;95(15):9053-8 PMID: 9671803
  28. Ancestral Asian source(s) of new world Y-chromosome founder haplotypes.
    Am J Hum Genet. 1999 Mar;64(3):817-31 PMID: 10053017
  29. Out of Africa and back again: nested cladistic analysis of human Y chromosome variation.
    Mol Biol Evol. 1998 Apr;15(4):427-41 PMID: 9549093
  30. Y-chromosome DNA haplotype 15 in Europe.
    Hum Biol. 1999 Jun;71(3):431-7 PMID: 10380377
  31. A selective difference between human Y-chromosomal DNA haplotypes.
    Curr Biol. 1998 Dec 17-31;8(25):1391-4 PMID: 9889101
  32. Sequence variation of the human Y chromosome.
    Nature. 1995 Nov 23;378(6555):379-80 PMID: 7477372
  33. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography.
    Genome Res. 1997 Oct;7(10):996-1005 PMID: 9331370
  34. Construction of human Y-chromosomal haplotypes using a new polymorphic A to G transition.
    Hum Mol Genet. 1994 Dec;3(12):2159-61 PMID: 7881413
  35. Patterns of gene flow inferred from genetic distances in the Mediterranean region.
    Hum Biol. 1999 Jun;71(3):399-415 PMID: 10380375
  36. Genetics and the origin of European languages.
    Proc Natl Acad Sci U S A. 1995 Jun 20;92(13):5836-40 PMID: 7597038
  37. Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism.
    Am J Hum Genet. 1999 Nov;65(5):1437-48 PMID: 10521311
  38. Reconstruction of prehistory on the basis of genetic data.
    Am J Hum Genet. 2000 Mar;66(3):1177-9 PMID: 10712232
  39. Y chromosomal DNA variation and the peopling of Japan.
    Am J Hum Genet. 1995 Apr;56(4):951-62 PMID: 7717406
  40. Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype.
    Hum Genet. 1997 May;99(5):648-52 PMID: 9150734
  41. Further characteristics of proto-European y chromosomes.
    Eur J Hum Genet. 1999 Jul;7(5):603-8 PMID: 10439969
  42. DNA variation and language affinities.
    Am J Hum Genet. 1997 Nov;61(5):1011-4 PMID: 9345113
  43. Analysis of DNA diversity by spatial autocorrelation.
    Genetics. 1995 Jun;140(2):811-9 PMID: 7498756
  44. Variation in short tandem repeats is deeply structured by genetic background on the human Y chromosome.
    Am J Hum Genet. 1999 Dec;65(6):1623-38 PMID: 10577916
  45. Synthetic maps of human gene frequencies in Europeans.
    Science. 1978 Sep 1;201(4358):786-92 PMID: 356262
  46. Demic expansions and human evolution.
    Science. 1993 Jan 29;259(5095):639-46 PMID: 8430313
  47. A view of the neolithic demic diffusion in Europe through two Y chromosome-specific markers.
    Am J Hum Genet. 1996 Oct;59(4):964-8 PMID: 8808616
  48. Genetic structure of north-west Africa revealed by STR analysis.
    Eur J Hum Genet. 2000 May;8(5):360-6 PMID: 10854096
  49. A DNA probe detecting multiple haplotypes of the human Y chromosome.
    Am J Hum Genet. 1986 Apr;38(4):407-18 PMID: 3010708
  50. Evidence for Paleolithic and Neolithic gene flow in Europe.
    Am J Hum Genet. 1998 Feb;62(2):488-92 PMID: 9463326
  51. Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism.
    J Med Genet. 2000 Oct;37(10):752-8 PMID: 11015452
  52. Spatial patterns of human gene frequencies in Europe.
    Am J Phys Anthropol. 1989 Nov;80(3):267-94 PMID: 2589472
  53. Population genetic implications from sequence variation in four Y chromosome genes.
    Proc Natl Acad Sci U S A. 2000 Jun 20;97(13):7354-9 PMID: 10861003
  54. Characterization of mitochondrial DNA and Y-chromosome haplotypes in a Uruguayan population of African ancestry.
    Hum Biol. 1997 Oct;69(5):641-52 PMID: 9299884
  55. Geographic patterns of mtDNA diversity in Europe.
    Am J Hum Genet. 2000 Jan;66(1):262-78 PMID: 10631156
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
2000-12-00
Epub
2000-00-09
Pages
1526-43
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1287948
Subset
IM
Grants
Wellcome Trust · 057559 · United Kingdom
Corrections
CommentIn
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