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Y-chromosome Lineages from Portugal, Madeira and Açores Record Elements of Sephardim and Berber Ancestry

  1. Rita Gonçalves1,
  2. Ana Freitas1,
  3. Marta Branco1,
  4. Alexandra Rosa1,4,
  5. Ana T. Fernandes1,
  6. Lev A. Zhivotovsky2,
  7. Peter A. Underhill3,
  8. Toomas Kivisild4,
  9. António Brehm1,*

Article first published online: 19 APR 2005

DOI: 10.1111/j.1529-8817.2005.00161.x

Issue

Annals of Human Genetics

Annals of Human Genetics

Volume 69, Issue 4, pages 443–454, July 2005

Additional Information

How to Cite

Gonçalves, R., Freitas, A., Branco, M., Rosa, A., Fernandes, A. T., Zhivotovsky, L. A., Underhill, P. A., Kivisild, T. and Brehm, A. (2005), Y-chromosome Lineages from Portugal, Madeira and Açores Record Elements of Sephardim and Berber Ancestry. Annals of Human Genetics, 69: 443–454. doi: 10.1111/j.1529-8817.2005.00161.x

Author Information

  1. 1

    Human Genetics Laboratory, University of Madeira, Campus of Penteada, 9000-390 Funchal, Portugal

  2. 2

    Vavilov Institute of General Genetics, Russian Academy of Science, 3 Gubkin St., Moscow 119991, Russia

  3. 3

    Department of Genetics, Stanford University, Stanford, California 94305-5120

  4. 4

    Department of Evolutionary Biology - Estonian Biocentre,Tartu University, Riia 23-51010 Tartu, Estonia

* *Corresponding author: António Brehm, Phone +351291705383, Fax +351291705393. E-mail: brehm@uma.pt

Publication History

  1. Issue published online: 19 APR 2005
  2. Article first published online: 19 APR 2005
  3. Received: 26 May 2004  Accepted: 7 December 2004

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Keywords:

  • Portuguese;
  • Y-chromosome;
  • SNP;
  • STR

Summary

A total of 553 Y-chromosomes were analyzed from mainland Portugal and the North Atlantic Archipelagos of Açores and Madeira, in order to characterize the genetic composition of their male gene pool. A large majority (78–83% of each population) of the male lineages could be classified as belonging to three basic Y chromosomal haplogroups, R1b, J, and E3b. While R1b, accounting for more than half of the lineages in any of the Portuguese sub-populations, is a characteristic marker of many different West European populations, haplogroups J and E3b consist of lineages that are typical of the circum-Mediterranean region or even East Africa. The highly diverse haplogroup E3b in Portuguese likely combines sub-clades of distinct origins. The present composition of the Y chromosomes in Portugal in this haplogroup likely reflects a pre-Arab component shared with North African populations or testifies, at least in part, to the influence of Sephardic Jews. In contrast to the marginally low sub-Saharan African Y chromosome component in Portuguese, such lineages have been detected at a moderately high frequency in our previous survey of mtDNA from the same samples, indicating the presence of sex-related gene flow, most likely mediated by the Atlantic slave trade.

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