{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T02:22:10Z","timestamp":1767838930501,"version":"3.49.0"},"reference-count":32,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2021,1,11]],"date-time":"2021-01-11T00:00:00Z","timestamp":1610323200000},"content-version":"vor","delay-in-days":345,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>XY C57BL\/6J (B6) mice harboring a Mus musculus domesticus-type Y chromosome (YPOS), known as B6.YPOS mice, commonly undergo gonadal sex reversal and develop as phenotypic females. In a minority of cases, B6.YPOS males are identified and a proportion of these are fertile. This phenotypic variability on a congenic B6 background has puzzled geneticists for decades. Recently, a B6.YPOS colony was shown to carry a non-B6-derived region of chromosome 11 that protected against B6.YPOS sex reversal. Here. we show that a B6.YPOS colony bred and archived at the MRC Harwell Institute lacks the chromosome 11 modifier but instead harbors an \u223c37 Mb region containing non-B6-derived segments on chromosome 13. This region, which we call Mod13, protects against B6.YPOS sex reversal in a proportion of heterozygous animals through its positive and negative effects on gene expression during primary sex determination. We discuss Mod13\u2019s influence on the testis determination process and its possible origin in light of sequence similarities to that region in other mouse genomes. Our data reveal that the B6.YPOS sex reversal phenomenon is genetically complex and the explanation of observed phenotypic variability is likely dependent on the breeding history of any local colony.<\/jats:p>","DOI":"10.1534\/genetics.119.302786","type":"journal-article","created":{"date-parts":[[2019,12,14]],"date-time":"2019-12-14T00:35:13Z","timestamp":1576283713000},"page":"467-477","source":"Crossref","is-referenced-by-count":6,"title":["Protection Against XY Gonadal Sex Reversal by a Variant Region on Mouse Chromosome 13"],"prefix":"10.1093","volume":"214","author":[{"given":"Catherine","family":"Livermore","sequence":"first","affiliation":[{"name":"Mammalian Genetics Unit , MRC Harwell Institute, Oxfordshire, OX11 0RD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Simon","sequence":"additional","affiliation":[{"name":"Mammalian Genetics Unit , MRC Harwell Institute, Oxfordshire, OX11 0RD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Reeves","sequence":"additional","affiliation":[{"name":"Mammalian Genetics Unit , MRC Harwell Institute, Oxfordshire, OX11 0RD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"St\u00e9vant","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine and Development , University of Geneva Medical School, CH 1211 Geneva 4, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serge","family":"Nef","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine and Development , University of Geneva Medical School, CH 1211 Geneva 4, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madeleine","family":"Pope","sequence":"additional","affiliation":[{"name":"Mammalian Genetics Unit , MRC Harwell Institute, Oxfordshire, OX11 0RD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann-Marie","family":"Mallon","sequence":"additional","affiliation":[{"name":"Mammalian Genetics Unit , MRC Harwell Institute, Oxfordshire, OX11 0RD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Wells","sequence":"additional","affiliation":[{"name":"The Mary Lyon Centre , MRC Harwell Institute, Oxfordshire, OX11 0RD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nick","family":"Warr","sequence":"additional","affiliation":[{"name":"Mammalian Genetics Unit , MRC Harwell Institute, Oxfordshire, OX11 0RD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andy","family":"Greenfield","sequence":"additional","affiliation":[{"name":"Mammalian Genetics Unit , MRC Harwell Institute, Oxfordshire, OX11 0RD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,2,1]]},"reference":[{"key":"2024011906311881600_bib1","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1093\/genetics\/147.3.1267","article-title":"DNA sequence analysis of Sry alleles (subgenus Mus) implicates misregulation as the cause of C57BL\/6J-Y(POS) sex reversal and defines the SRY functional unit.","volume":"147","author":"Albrecht","year":"1997","journal-title":"Genetics"},{"key":"2024011906311881600_bib2","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1093\/genetics\/164.1.277","article-title":"Sry expression level and protein isoform differences play a role in abnormal testis development in C57BL\/6J mice carrying certain Sry alleles.","volume":"164","author":"Albrecht","year":"2003","journal-title":"Genetics"},{"key":"2024011906311881600_bib3","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1534\/genetics.113.160259","article-title":"Regulation of sex determination in mice by a non-coding genomic region.","volume":"197","author":"Arboleda","year":"2014","journal-title":"Genetics"},{"key":"2024011906311881600_bib4","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/S0303-7207(97)00159-7","article-title":"Localisation and regulation of 17beta-hydroxysteroid dehydrogenase type 3 mRNA during development in the mouse testis.","volume":"133","author":"Baker","year":"1997","journal-title":"Mol. 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