Distinct properties of the XY pseudoautosomal region crucial for male meiosis

Science. 2011 Feb 18;331(6019):916-20. doi: 10.1126/science.1195774.

Abstract

Meiosis requires that each chromosome find its homologous partner and undergo at least one crossover. X-Y chromosome segregation hinges on efficient crossing-over in a very small region of homology, the pseudoautosomal region (PAR). We find that mouse PAR DNA occupies unusually long chromosome axes, potentially as shorter chromatin loops, predicted to promote double-strand break (DSB) formation. Most PARs show delayed appearance of RAD51/DMC1 foci, which mark DSB ends, and all PARs undergo delayed DSB-mediated homologous pairing. Analysis of Spo11β isoform-specific transgenic mice revealed that late RAD51/DMC1 foci in the PAR are genetically distinct from both early PAR foci and global foci and that late PAR foci promote efficient X-Y pairing, recombination, and male fertility. Our findings uncover specific mechanisms that surmount the unique challenges of X-Y recombination.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Cycle Proteins / metabolism
  • Chromatin / chemistry
  • Chromatin / metabolism
  • Chromosome Pairing*
  • Chromosome Segregation
  • Crossing Over, Genetic*
  • DNA Breaks, Double-Stranded
  • Endodeoxyribonucleases / genetics
  • Endodeoxyribonucleases / metabolism*
  • Female
  • In Situ Hybridization, Fluorescence
  • Male
  • Meiosis*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Molecular Sequence Data
  • Nuclear Proteins / metabolism
  • Phosphate-Binding Proteins
  • Protein Isoforms
  • Rad51 Recombinase / metabolism
  • X Chromosome / physiology*
  • Y Chromosome / physiology*

Substances

  • Cell Cycle Proteins
  • Chromatin
  • Dmc1 protein, mouse
  • Nuclear Proteins
  • Phosphate-Binding Proteins
  • Protein Isoforms
  • Rad51 Recombinase
  • Rad51 protein, mouse
  • Endodeoxyribonucleases
  • meiotic recombination protein SPO11