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

Multiple Loci Contribute to Genome-Wide Recombination Levels in Male Mice

Free PMC article

Multiple Loci Contribute to Genome-Wide Recombination Levels in Male Mice

Brenda Murdoch et al. Mamm Genome. .
Free PMC article


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.


Fig. 1
Fig. 1
The mean number of MLH1 foci per cell for males in two parental strains, CAST/Ei (21.4 ± 1.4) and C57BL/6J (24.0 ± 1.85) and in the F1- (22.8 ± 1.83) and F2- (22.5 ± 1.82) derived mice. The vertical lines indicate the standard deviation of the MLH1 values for each animal
Fig. 2
Fig. 2
LOD profiles for a multiple-QTL model with loci on chromosomes 2, 3, 4, 14, 15, 17, and X. The LOD profile for a given chromosome is for a comparison between the 7-QTL model, with the position of the given QTLs allowed to vary but with the positions of the other 6 QTLs fixed at their estimated locations, and the 6-QTL model, with the given QTLs omitted. The dashed line denotes the position of the 5% estimated significance thresholds determined by permutation. The chromosomal locations of the peak LOD scores are shown in cM
Fig. 3
Fig. 3
Estimated phenotypic effects of individual QTLs. For chromosomes 3, 4, 15, and 17, the C57BL/6J allele (“B”) was associated with an increase in the number of MLH1 foci; for chromosomes 2, 14, and X, the CAST/Ei allele (“C”) was associated with an increase in MLH1 counts. For each chromosome, the relationship is shown for a specific SNP at the chromosomal location (in cM) yielding the highest LOD score. The vertical bars indicate ±1 SE

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