Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations

Hum Mol Genet. 1998 Sep;7(9):1371-7. doi: 10.1093/hmg/7.9.1371.

Abstract

The recent transposition to the Y chromosome of the autosomal DAZL1 gene, potentially involved in germ cell development, created a unique opportunity to study the rate of Y chromosome evolution and assess the selective forces that may act upon such genes, and provided a new estimate of the male-to-female mutation rate (alpham). Two different Y-located DAZ sequences were observed in all Old World monkeys, apes and humans. Different DAZ copies originate from independent amplification events in each primate lineage. A comparison of autosomal DAZL1 and Y-linked DAZ intron sequences gave a new figure for male-to-female mutation rates of alpham = 4. It was found that human DAZ exons and introns are evolving at the same rate, implying neutral genetic drift and the absence of any functional selective pressures. We therefore hypothesize that Y-linked DAZ plays little, or a limited, role in human spermatogenesis. The two copies of DAZ in man appear to be due to a relatively recent duplication event (55 000-200 000 years). A worldwide survey of 67 men from five continents representing 19 distinct populations showed that most males have both DAZ variants. This implies a common origin for the Y chromosome consistent with a recent 'out of Africa' origin of the human race.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa
  • Animals
  • Base Sequence
  • Biological Evolution*
  • Cercopithecidae / genetics
  • Conserved Sequence
  • DNA Primers / genetics
  • DNA Transposable Elements
  • Deleted in Azoospermia 1 Protein
  • Female
  • Genetic Linkage
  • Genetic Variation
  • Humans
  • Male
  • Models, Genetic
  • Multigene Family*
  • Phylogeny
  • Polymorphism, Genetic
  • Primates / genetics
  • RNA-Binding Proteins / genetics*
  • Spermatogenesis / genetics*
  • Y Chromosome / genetics*

Substances

  • DAZ1 protein, human
  • DNA Primers
  • DNA Transposable Elements
  • Deleted in Azoospermia 1 Protein
  • RNA-Binding Proteins