Human Genetics

, Volume 114, Issue 4, pp 354–365

Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations

Authors

  • Doron M. Behar
    • Bruce Rappaport Faculty of Medicine and Research InstituteTechnion and Rambam Medical Center
  • Daniel Garrigan
    • Division of BiotechnologyUniversity of Arizona
  • Matthew E. Kaplan
    • Division of BiotechnologyUniversity of Arizona
  • Zahra Mobasher
    • Division of BiotechnologyUniversity of Arizona
  • Dror Rosengarten
    • Bruce Rappaport Faculty of Medicine and Research InstituteTechnion and Rambam Medical Center
  • Tatiana M. Karafet
    • Division of BiotechnologyUniversity of Arizona
  • Lluis Quintana-Murci
    • CNRS URA1961Institut Pasteur
  • Harry Ostrer
    • Human Genetics ProgramNew York University School of Medicine
    • Bruce Rappaport Faculty of Medicine and Research InstituteTechnion and Rambam Medical Center
    • Department of Nephrology and Molecular MedicineTechnion and Rambam Medical Center
  • Michael F. Hammer
    • Division of BiotechnologyUniversity of Arizona
Original Investigation

DOI: 10.1007/s00439-003-1073-7

Cite this article as:
Behar, D.M., Garrigan, D., Kaplan, M.E. et al. Hum Genet (2004) 114: 354. doi:10.1007/s00439-003-1073-7

Abstract

The molecular basis of more than 25 genetic diseases has been described in Ashkenazi Jewish populations. Most of these diseases are characterized by one or two major founder mutations that are present in the Ashkenazi population at elevated frequencies. One explanation for this preponderance of recessive diseases is accentuated genetic drift resulting from a series of dispersals to and within Europe, endogamy, and/or recent rapid population growth. However, a clear picture of the manner in which neutral genetic variation has been affected by such a demographic history has not yet emerged. We have examined a set of 32 binary markers (single nucleotide polymorphisms; SNPs) and 10 microsatellites on the non-recombining portion of the Y chromosome (NRY) to investigate the ways in which patterns of variation differ between Ashkenazi Jewish and their non-Jewish host populations in Europe. This set of SNPs defines a total of 20 NRY haplogroups in these populations, at least four of which are likely to have been part of the ancestral Ashkenazi gene pool in the Near East, and at least three of which may have introgressed to some degree into Ashkenazi populations after their dispersal to Europe. It is striking that whereas Ashkenazi populations are genetically more diverse at both the SNP and STR level compared with their European non-Jewish counterparts, they have greatly reduced within-haplogroup STR variability, especially in those founder haplogroups that migrated from the Near East. This contrasting pattern of diversity in Ashkenazi populations is evidence for a reduction in male effective population size, possibly resulting from a series of founder events and high rates of endogamy within Europe. This reduced effective population size may explain the high incidence of founder disease mutations despite overall high levels of NRY diversity.

Supplementary material

Supplementary Material 1+2 Y- Chromosome Haplogroup Frequencies in Ashkenazi Jews and Hungarians

supp.pdf (28 kb)
(PDF 28 KB)

Copyright information

© Springer-Verlag 2004