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 chro...
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| Veröffentlicht in: | Proceedings of the National Academy of Sciences - PNAS 1995-10, Vol.92 (22), p.10403-10407 |
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| container_title | Proceedings of the National Academy of Sciences - PNAS |
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| creator | Laval, Steven H. Glenister, Peter H. Rasberry, Carol Thornton, Claire E. Mahadevaiah, Shantha K. Cooke, Howard J. Burgoyne, Paul S. Cattanach, Bruce M. |
| description | 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. |
| doi_str_mv | 10.1073/pnas.92.22.10403 |
| format | Article |
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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.</description><identifier>ISSN: 0027-8424</identifier><identifier>EISSN: 1091-6490</identifier><identifier>DOI: 10.1073/pnas.92.22.10403</identifier><identifier>PMID: 7479793</identifier><language>eng</language><publisher>United States: National Academy of Sciences of the United States of America</publisher><subject>Animals ; Base Sequence ; Biological Evolution ; Blotting, Southern ; Chromosome Mapping ; Disorders of Sex Development ; DNA Primers ; DNA-Binding Proteins - genetics ; Female ; Female animals ; Gene Deletion ; Genes ; Genetic Carrier Screening ; Genetic loci ; Genetic Variation ; Genetics ; Humans ; Hypoxanthine Phosphoribosyltransferase - genetics ; Male ; Male animals ; Mice ; Mice, Inbred AKR ; Molecular Sequence Data ; Multigene Family ; Mus musculus domesticus ; Nuclear Proteins ; Polymerase Chain Reaction ; Recombination, Genetic ; Restriction Mapping ; Reverse transcriptase polymerase chain reaction ; Sex chromosomes ; Sex reversal surgery ; Sex-Determining Region Y Protein ; Testes ; Testis - metabolism ; Transcription Factors ; X Chromosome ; Y Chromosome</subject><ispartof>Proceedings of the National Academy of Sciences - PNAS, 1995-10, Vol.92 (22), p.10403-10407</ispartof><rights>Copyright 1995 The National Academy of Sciences of the United States of America</rights><rights>Copyright National Academy of Sciences Oct 24, 1995</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c591t-494015553c3baa3887dc32d3f4b46ddf2a9726d273dc34348ee561ed5ac39f063</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Uhttp://www.pnas.org/content/92/22.cover.gif</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/2368684$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/2368684$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>230,314,723,776,780,799,881,27903,27904,53770,53772,57996,58229</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7479793$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Laval, Steven H.</creatorcontrib><creatorcontrib>Glenister, Peter H.</creatorcontrib><creatorcontrib>Rasberry, Carol</creatorcontrib><creatorcontrib>Thornton, Claire E.</creatorcontrib><creatorcontrib>Mahadevaiah, Shantha K.</creatorcontrib><creatorcontrib>Cooke, Howard J.</creatorcontrib><creatorcontrib>Burgoyne, Paul S.</creatorcontrib><creatorcontrib>Cattanach, Bruce M.</creatorcontrib><title>Y Chromosome Short Arm-Sxr Recombination in XSxr/Y Males Causes Deletion of Rbm and XY Female Sex Reversal</title><title>Proceedings of the National Academy of Sciences - PNAS</title><addtitle>Proc Natl Acad Sci U S A</addtitle><description>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.</description><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological Evolution</subject><subject>Blotting, Southern</subject><subject>Chromosome Mapping</subject><subject>Disorders of Sex Development</subject><subject>DNA Primers</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Female</subject><subject>Female animals</subject><subject>Gene Deletion</subject><subject>Genes</subject><subject>Genetic Carrier Screening</subject><subject>Genetic loci</subject><subject>Genetic Variation</subject><subject>Genetics</subject><subject>Humans</subject><subject>Hypoxanthine Phosphoribosyltransferase - genetics</subject><subject>Male</subject><subject>Male animals</subject><subject>Mice</subject><subject>Mice, Inbred AKR</subject><subject>Molecular Sequence Data</subject><subject>Multigene Family</subject><subject>Mus musculus domesticus</subject><subject>Nuclear Proteins</subject><subject>Polymerase Chain Reaction</subject><subject>Recombination, Genetic</subject><subject>Restriction Mapping</subject><subject>Reverse transcriptase polymerase chain reaction</subject><subject>Sex chromosomes</subject><subject>Sex reversal surgery</subject><subject>Sex-Determining Region Y Protein</subject><subject>Testes</subject><subject>Testis - metabolism</subject><subject>Transcription Factors</subject><subject>X Chromosome</subject><subject>Y Chromosome</subject><issn>0027-8424</issn><issn>1091-6490</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1vEzEUxC0EKqFw5wDC4oC4bPr8bUtcqkABqQipAak5Wc6ul2y0u07t3Sr89zhNiCgHOD35zW9Gtgeh5wSmBBQ72_QuTQ2dUprPHNgDNCFgSCG5gYdoAkBVoTnlj9GTlNYAYISGE3SiuDLKsAlaL_BsFUMXUug8nq9CHPB57Ir5NuIrX4Zu2fRuaEKPmx5f5-3ZAn9xrU945saUx3vf-js91Phq2WHXV_h6gS98lyk899scc-tjcu1T9Kh2bfLPDvMUfb_48G32qbj8-vHz7PyyKIUhQ8ENByKEYCVbOse0VlXJaMVqvuSyqmrqjKKyoorlPWdcey8k8ZVwJTM1SHaK3u1zN-Oy81Xp-yG61m5i07n40wbX2PtK36zsj3BrOWgQ2f7mYI_hZvRpsF2TSt-2rvdhTFYpYUBp-V-QSKM44TSDr_8C12GMff4DS4EwxqTQGYI9VMaQUvT18cIE7K5ru-vaGmoptXddZ8vLPx96NBzKzfqrg75z_lbvJ7z9N2HrsW0Hvx0y-mKPrtMQ4pGlTGqpOfsFWkrGhA</recordid><startdate>19951024</startdate><enddate>19951024</enddate><creator>Laval, Steven H.</creator><creator>Glenister, Peter H.</creator><creator>Rasberry, Carol</creator><creator>Thornton, Claire E.</creator><creator>Mahadevaiah, Shantha K.</creator><creator>Cooke, Howard J.</creator><creator>Burgoyne, Paul S.</creator><creator>Cattanach, Bruce M.</creator><general>National Academy of Sciences of the United States of America</general><general>National Acad Sciences</general><general>National Academy of Sciences</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QG</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TK</scope><scope>7TM</scope><scope>7TO</scope><scope>7U9</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>M7N</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19951024</creationdate><title>Y Chromosome Short Arm-Sxr Recombination in XSxr/Y Males Causes Deletion of Rbm and XY Female Sex Reversal</title><author>Laval, Steven H. ; 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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.</abstract><cop>United States</cop><pub>National Academy of Sciences of the United States of America</pub><pmid>7479793</pmid><doi>10.1073/pnas.92.22.10403</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Animals Base Sequence Biological Evolution Blotting, Southern Chromosome Mapping Disorders of Sex Development DNA Primers DNA-Binding Proteins - genetics Female Female animals Gene Deletion Genes Genetic Carrier Screening Genetic loci Genetic Variation Genetics Humans Hypoxanthine Phosphoribosyltransferase - genetics Male Male animals Mice Mice, Inbred AKR Molecular Sequence Data Multigene Family Mus musculus domesticus Nuclear Proteins Polymerase Chain Reaction Recombination, Genetic Restriction Mapping Reverse transcriptase polymerase chain reaction Sex chromosomes Sex reversal surgery Sex-Determining Region Y Protein Testes Testis - metabolism Transcription Factors X Chromosome Y Chromosome |
| title | Y Chromosome Short Arm-Sxr Recombination in XSxr/Y Males Causes Deletion of Rbm and XY Female Sex Reversal |
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