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Letter
Nature Genetics  26, 358 - 361 (2000)
doi:10.1038/81685

Y chromosome sequence variation and the history of human populations

Peter A. Underhill1, Peidong Shen2, Alice A. Lin1, Li Jin3, Giuseppe Passarino1, Wei H. Yang2, Erin Kauffman2, Batsheva Bonné-Tamir4, Jaume Bertranpetit5, Paolo Francalacci6, Muntaser Ibrahim7, Trefor Jenkins8, Judith R. Kidd9, S. Qasim Mehdi10, Mark T. Seielstad11, R. Spencer Wells12, Alberto Piazza13, Ronald W. Davis2, Marcus W. Feldman14, L. Luca Cavalli-Sforza1 & Peter. J. Oefner2

1  Department of Genetics, Stanford University, Stanford, California, USA.

2  Stanford DNA Sequencing and Technology Center, Palo Alto, California, USA.

3  University of Texas-Houston, Human Genetics Center, Houston, Texas, USA.

4  Sackler Faculty of Medicine, Human Genetics, Tel-Aviv University, Tel-Aviv, Israel.

5  Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain.

6  Dipartimento di Zoologia e Antropologia Biologica, Università di Sassari, Sassari, Italy.

7  Institute of Endemic Diseases, University of Khartoum, Sudan.

8  Department of Human Genetics, School of Pathology, South African Institute for Medical Research and the University of Witwatersrand, Johannesburg, South Africa.

9  Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.

10  Dr. A. Q. Khan Research Laboratories, Biomedical & Genetic Engineering Laboratories, Islamabad, Pakistan.

11  Harvard School of Public Health, Program for Population Genetics, Boston, Massachusetts, USA.

12  Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, UK.

13  Department of Genetics, Biology and Biochemistry, Department of Genetics, University of Torino, Torino, Italy.

14  Department of Biological Sciences, Herrin Laboratories, Stanford University, California, USA.

Correspondence should be addressed to Peter A. Underhill under@stanford.edu
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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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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