Sequencing of rhesus macaque Y chromosome clarifies origins and evolution of the DAZ (Deleted in AZoospermia) genes

Bioessays. 2012 Dec;34(12):1035-44. doi: 10.1002/bies.201200066. Epub 2012 Oct 10.

Abstract

Studies of Y chromosome evolution often emphasize gene loss, but this loss has been counterbalanced by addition of new genes. The DAZ genes, which are critical to human spermatogenesis, were acquired by the Y chromosome in the ancestor of Old World monkeys and apes. We and our colleagues recently sequenced the rhesus macaque Y chromosome, and comparison of this sequence to human and chimpanzee enables us to reconstruct much of the evolutionary history of DAZ. We report that DAZ arrived on the Y chromosome about 38 million years ago via the transposition of at least 1.1 megabases of autosomal DNA. This transposition also brought five additional genes to the Y chromosome, but all five genes were subsequently lost through mutation or deletion. As the only surviving gene, DAZ experienced extensive restructuring, including intragenic amplification and gene duplication, and has been the target of positive selection in the chimpanzee lineage. Editor's suggested further reading in BioEssays Should Y stay or should Y go: The evolution of non-recombining sex chromosomes Abstract.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Binding Sites
  • Cercopithecidae / genetics
  • Chromosomes, Human, Y
  • Deleted in Azoospermia 1 Protein
  • Evolution, Molecular*
  • Gene Duplication
  • Hominidae / genetics
  • Humans
  • Macaca mulatta / genetics*
  • Male
  • Pan troglodytes / genetics
  • Protein Structure, Tertiary
  • RNA-Binding Proteins / genetics*
  • RNA-Binding Proteins / metabolism
  • Selection, Genetic
  • Sequence Analysis, DNA
  • Y Chromosome*

Substances

  • DAZ1 protein, human
  • Deleted in Azoospermia 1 Protein
  • RNA-Binding Proteins