Multiple loci contribute to genome-wide recombination levels in male mice

Mamm Genome. 2010 Dec;21(11-12):550-5. doi: 10.1007/s00335-010-9303-5. Epub 2010 Nov 27.


Recent linkage-based studies in humans suggest the presence of loci that affect either genome-wide recombination rates, utilization of recombination hotspots, or both. We have been interested in utilizing cytological methodology to directly assess recombination in mammalian meiocytes and to identify recombination-associated loci. In the present report we summarize studies in which we combined a cytological assay of recombination in mouse pachytene spermatocytes with QTL analyses to identify loci that contribute to genome-wide levels of recombination in male meiosis. Specifically, we analyzed MLH1 foci, a marker of crossovers, in 194 F2 male mice derived from a subspecific cross between CAST/EiJ and C57BL/6J parental strains. We then used these data to uncover loci associated with individual variation in mean MLH1 values. We identified seven recombination-associated loci across the genome (on chromosomes 2, 3, 4, 14, 15, 17, and X), indicating that there are multiple recombination "setting" loci in mammalian male meiosis.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Alleles
  • Animals
  • Chromosomes, Mammalian*
  • Crosses, Genetic
  • Female
  • Genetic Association Studies / methods*
  • Genotype
  • Male
  • Meiosis*
  • Mice
  • Mice, Inbred C57BL
  • MutL Protein Homolog 1
  • Nuclear Proteins / genetics
  • Quantitative Trait Loci*
  • Recombination, Genetic*
  • Spermatocytes


  • Adaptor Proteins, Signal Transducing
  • Mlh1 protein, mouse
  • Nuclear Proteins
  • MutL Protein Homolog 1