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Publication : Polymorphism of a CAG trinucleotide repeat within Sry correlates with B6.YDom sex reversal.

First Author  Coward P Year  1994
Journal  Nat Genet Volume  6
Issue  3 Pages  245-50
PubMed ID  8012385 Mgi Jnum  J:17098
Mgi Id  MGI:65151 Doi  10.1038/ng0394-245
Citation  Coward P, et al. (1994) Polymorphism of a CAG trinucleotide repeat within Sry correlates with B6.YDom sex reversal. Nat Genet 6(3):245-50
abstractText  Breeding the Y chromosome from certain Mus musculus domesticus strains onto the inbred laboratory mouse strain, C57BL/6J (B6), results in hermaphroditic progeny. This strain-dependent sex reversal suggests that there may be significant allelic variation in the murine sex determining gene, Sry. We have analysed the Sry genes from several domesticus-type Y chromosomes and show that they encode smaller proteins than the molossinus-type alleles SryB6 and Sry129. We have also identified a polymorphic stretch of trinucleotide repeats that is unique to strains causing sex reversal and show that specific changes in the predicted polyglutamine amino acid sequence at this site are associated with different degrees of sex reversal.
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