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MBE Advance Access published online on October 12, 2009

Molecular Biology and Evolution, doi:10.1093/molbev/msp243
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© 2009 The Authors
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.


Research Article

A worldwide survey of human male demographic history based on Y-SNP and Y-STR data from the HGDP-CEPH populations

Wentao Shi*,{dagger}, Qasim Ayub*, Mark Vermeulen{ddagger}, Rong-guang Shao{dagger}, Sofia Zuniga§, Kristiaan van der Gaag§, Peter de Knijff§, Manfred Kayser{ddagger}, Yali Xue* and Chris Tyler-Smith*

* The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs., UK
{dagger} Institute of Medicinal Biotechnology, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China
{ddagger} Department of Forensic Molecular Biology, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands
§ Forensic Laboratory for DNA Research, Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands

Corresponding author: Chris Tyler-Smith, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs. CB10 1SA, UK. Tel: [+44] (0) 1223 495376. Fax: [+44] (0) 1223 494919. Email: cts{at}sanger.ac.uk

Received for publication July 23, 2009. Revision received October 2, 2009. Accepted for publication October 6, 2009.

We have investigated human male demographic history using 590 males from 51 populations in the HGDP-CEPH worldwide panel, typed with 37 Y-SNPs and 65 Y-STRs, and analyzed with the program BATWING. The general patterns we observe show a gradient from the oldest population TMRCAs and expansion times together with the largest effective population sizes in Africa, to the youngest times and smallest effective population sizes in the Americas. These parameters are significantly negatively correlated with distance from East Africa and the patterns are consistent with most other studies of human variation and history. In contrast, growth rate showed a weaker correlation in the opposite direction. Y lineage diversity and TMRCA also decrease with distance from East Africa, supporting a model of expansion with serial founder events starting from this source. A number of individual populations diverge from these general patterns, including previously-documented examples such as recent expansions of the Yoruba in Africa, Basques in Europe and Yakut in Northern Asia. However, some unexpected demographic histories were also found, including low growth rates in the Hazara and Kalash from Pakistan, and recent expansion of the Mozabites in North Africa.

Key Words: Y-STR • Y-SNP • HGDP-CEPH • male demographic history • BATWING • serial founder model


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