A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region

Genomics. 2004 Jun;83(6):1046-52. doi: 10.1016/j.ygeno.2003.12.018.

Abstract

The human Y chromosome is replete with amplicons-very large, nearly identical repeats-which render it susceptible to interstitial deletions that often cause spermatogenic failure. Here we describe a recurrent, 1.8-Mb deletion that removes half of the azoospermia factor c (AZFc) region, including 12 members of eight testis-specific gene families. We show that this "b2/b3" deletion arose at least four times in human history-likely on inverted variants of the AZFc region that we find exist as common polymorphisms. We observed the b2/b3 deletion primarily in one family of closely related Y chromosomes-branch N in the Y-chromosome genealogy-in which all chromosomes carried the deletion. This branch is known to be widely distributed in northern Eurasia, accounts for the majority of Y chromosomes in some populations, and appears to be several thousand years old. The population-genetic success of the b2/b3 deletion is surprising, (i) because it removes half of AZFc and (ii) because the gr/gr deletion, which removes a similar set of testis-specific genes, predisposes to spermatogenic failure. Our present findings suggest either that the b2/b3 deletion has at most a modest effect on fitness or that, within branch N, its effect has been counterbalanced by another genetic, possibly Y-linked, factor.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Asia
  • Cell Nucleus / ultrastructure
  • Chromosome Deletion*
  • Chromosomes, Human, Y / genetics*
  • DNA / analysis
  • Europe
  • Gene Rearrangement / genetics
  • Genetic Loci
  • Genetic Testing
  • Humans
  • In Situ Hybridization, Fluorescence
  • Interphase
  • Male
  • Models, Genetic
  • Oligospermia / genetics*
  • Pedigree
  • Seminal Plasma Proteins / genetics*

Substances

  • Seminal Plasma Proteins
  • DNA