Y chromosome sequence variation and the history of human populations (original) (raw)

Nature Genetics volume 26, pages 358–361 (2000)Cite this article

Abstract

Binary polymorphisms associated with the non-recombining region of the human Y chromosome (NRY) preserve the paternal genetic legacy of our species that has persisted to the present, permitting inference of human evolution, population affinity and demographic history1. We used denaturing high-performance liquid chromatography (DHPLC; ref. 2) to identify 160 of the 166 bi-allelic and 1 tri-allelic site that formed a parsimonious genealogy of 116 haplotypes, several of which display distinct population affinities based on the analysis of 1062 globally representative individuals. A minority of contemporary East Africans and Khoisan represent the descendants of the most ancestral patrilineages of anatomically modern humans that left Africa between 35,000 and 89,000 years ago.

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Acknowledgements

We thank the 1,062 men who donated DNA; R.G. Klein, J. Mountain and M. Ruhlen for helpful discussions; D. Vollrath, R. Hyman and F.S. Dietrich for Y-specific cosmid sequences; and J. Block, D. Soergel, K. Prince, C. Edmonds and A. Rojas for technical help. A.W. Bergen made the RPS4YC711T marker (M130) information available to us before its publication. This work was supported in part by the NIH, NIHGR and L.S.B. Leakey Foundation.

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Authors and Affiliations

  1. Department of Genetics, Stanford University, Stanford, California, USA
    Peter A. Underhill, Alice A. Lin, Giuseppe Passarino & L. Luca Cavalli-Sforza
  2. Stanford DNA Sequencing and Technology Center, Palo Alto, California, USA
    Peidong Shen, Wei H. Yang, Erin Kauffman, Ronald W. Davis & Peter. J. Oefner
  3. University of Texas-Houston, Human Genetics Center, Houston, Texas, USA
    Li Jin
  4. Sackler Faculty of Medicine, Human Genetics, Tel-Aviv University, Tel-Aviv, Israel
    Batsheva Bonné-Tamir
  5. Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain
    Jaume Bertranpetit
  6. Dipartimento di Zoologia e Antropologia Biologica, Università di Sassari, Sassari, Italy
    Paolo Francalacci
  7. Institute of Endemic Diseases, University of Khartoum, Sudan
    Muntaser Ibrahim
  8. Department of Human Genetics, School of Pathology, South African Institute for Medical Research and the University of Witwatersrand, Johannesburg, South Africa
    Trefor Jenkins
  9. Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA
    Judith R. Kidd
  10. Dr. A. Q. Khan Research Laboratories, Biomedical & Genetic Engineering Laboratories, Islamabad, Pakistan
    S. Qasim Mehdi
  11. Harvard School of Public Health, Program for Population Genetics, Boston, Massachusetts, USA
    Mark T. Seielstad
  12. Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, UK
    R. Spencer Wells
  13. Department of Genetics, Department of Genetics, Biology and Biochemistry, University of Torino, Torino, Italy
    Alberto Piazza
  14. Department of Biological Sciences, Herrin Laboratories, Stanford University, California, USA
    Marcus W. Feldman

Authors

  1. Peter A. Underhill
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  2. Peidong Shen
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  3. Alice A. Lin
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  4. Li Jin
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  5. Giuseppe Passarino
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  6. Wei H. Yang
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  7. Erin Kauffman
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  8. Batsheva Bonné-Tamir
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  9. Jaume Bertranpetit
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  10. Paolo Francalacci
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  11. Muntaser Ibrahim
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  12. Trefor Jenkins
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  13. Judith R. Kidd
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  14. S. Qasim Mehdi
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  15. Mark T. Seielstad
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  16. R. Spencer Wells
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  17. Alberto Piazza
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  18. Ronald W. Davis
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  19. Marcus W. Feldman
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  20. L. Luca Cavalli-Sforza
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  21. Peter. J. Oefner
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Corresponding author

Correspondence toPeter A. Underhill.

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Underhill, P., Shen, P., Lin, A. et al. Y chromosome sequence variation and the history of human populations.Nat Genet 26, 358–361 (2000). https://doi.org/10.1038/81685

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