PMID: 11334678May 4, 2001Paper

Evolution of the CCR5 Delta32 mutation based on haplotype variation in Jewish and Northern European population samples

Human Immunology
William KlitzJ R Oksenberg

Abstract

The chemokine receptor 5 (CCR5) serves as a fusion cofactor for macrophage-tropic strains of HIV-1. In addition, CCR5 has been shown to mediate the entry of poxviruses into target cells. Individuals homozygous for the Delta32 deletion-mutation have no surface expression of CCR5 and are highly protected against HIV-1 infection. To gain insights into the evolution of the mutation in modern populations, the relatively high frequency of the Delta32-ccr5 allele in some European and Jewish populations is explored here by examining haplotypes of 3p21.3 constructed of five polymorphic marker loci surrounding CCR5. By sampling Ashkenazi, non-Ashkenazi and non-Jewish populations, we utilize the natural experiment that occurred as a consequence of the Jewish Diaspora, and demonstrate that a single mutation was responsible for all copies of Delta32. This mutation must have moved from Northern European populations to the Ashkenazi Jews where evidence suggests that Delta32 carriers of both groups were favored by repeated occurrence of epidemic small pox beginning in the 8th century AD.

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Citations

Sep 7, 2002·Genetic Testing·S KhaliqS Qasim Mehdi
Mar 6, 2004·Genetic Testing·G Lucotte, P Smets
Jul 27, 2002·Annual Review of Genomics and Human Genetics·Michael DeanStephen J O'Brien
Oct 12, 2005·PLoS Biology·John NovembreMontgomery Slatkin
Jul 22, 2004·Current Opinion in Molecular Therapeutics·Oliver Ast, Wolfgang Lüke
Mar 13, 2014·Microbes and Infection·Brian BrestovacDavid Williams
Sep 19, 2006·Seminars in Immunology·Fernando Arenzana-Seisdedos, Marc Parmentier
Sep 16, 2008·Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases·Eric Faure, Manuela Royer-Carenzi
Nov 24, 2004·FEMS Microbiology Letters·Eric de Silva, Michael P H Stumpf
Sep 24, 2010·Tissue Antigens·W KlitzS Israel
Mar 27, 2020·International Journal of Immunogenetics·Joel Henrique EllwangerJosé Artur Bogo Chies
Dec 29, 2007·Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases·Przemysław Zawicki, Henryk W Witas

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