Y chromosome short arm-Sxr recombination in XSxr/Y males causes deletion of Rbm and XY female sex reversal.
We earlier described three lines of sex-reversed XY female mice deleted for sequences believed close to the testes-determining gene (Sry) on the Y chromosome short arm (Yp). The original sex-reversed females appeared among the offspring of XY males that carried the Yp duplication Sxr on their X chromosome. Earlier cytogenetic observations had suggested that the deletions resulted from asymmetrical meiotic recombination between the Y and the homologous Sxr region, but no direct evidence for this hypothesis was available. We have now analyzed the offspring of XSxr/Y males carrying an evolutionarily divergent Mus musculus domesticus Y chromosome, which permits detection and characterization of such recombination events. This analysis has enabled the derivation of a recombination map of Yp and Sxr, also demonstrating the orientation of Yp with respect to the Y centromere. The mapping data have established that Rbm, the murine homologue of a gene family cloned from the human Y chromosome, lies between Sry and the centromere. Analysis of two additional XY female lines shows that asymmetrical Yp-Sxr recombination leading to XY female sex reversal results in deletion of Rbm sequences. The deletions bring Sry closer to Y centromere, consistent with the hypothesis that position-effect inactivation of Sry is the basis for the sex reversal.
D000818:Animals; D001483:Base Sequence; D005075:Biological Evolution; D015139:Blotting, Southern; D002874:Chromosome Mapping; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics; D012734:Disorders of Sex Development; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D008297:Male; D051379:Mice; D008806:Mice, Inbred AKR; D008969:Molecular Sequence Data; D005810:Multigene Family; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic; D015183:Restriction Mapping; D051876:Sex-Determining Region Y Protein; D013737:Testis / Q000378:metabolism; D014157:Transcription Factors; D014960:X Chromosome; D014998:Y Chromosome
D017931:DNA Primers; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; C497746:Sry protein, mouse; D014157:Transcription Factors; D007041:Hypoxanthine Phosphoribosyltransferase