Y-CHROMOSOME SHORT ARM-SXR RECOMBINATION IN XSXR/Y MALES CAUSES DELETION OF RBM AND XY FEMALE SEX REVERSAL

被引:49
作者
LAVAL, SH
GLENISTER, PH
RASBERRY, C
THORNTON, CE
MAHADEVAIAH, SK
COOKE, HJ
BURGOYNE, PS
CATTANACH, BM
机构
[1] NATL INST MED RES,DEV GENET LAB,LONDON NW7 1AA,ENGLAND
[2] WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,CHROMOSOME BIOL SECT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
关键词
D O I
10.1073/pnas.92.22.10403
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
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.
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页码:10403 / 10407
页数:5
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