Sry基因内CAG三核苷酸重复序列的多态性与B6.YDom性反转相关。

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

作者信息

Coward P, Nagai K, Chen D, Thomas H D, Nagamine C M, Lau Y F

机构信息

Department of Medicine, VA Medical Center, University of California, San Francisco 94121.

出版信息

Nat Genet. 1994 Mar;6(3):245-50. doi: 10.1038/ng0394-245.

DOI:10.1038/ng0394-245

PMID:8012385

Abstract

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.

摘要

将某些家鼠（小家鼠）品系的Y染色体培育到近交系实验室小鼠品系C57BL/6J（B6）上，会产生雌雄同体的后代。这种品系依赖性的性反转表明，小鼠性别决定基因Sry可能存在显著的等位基因变异。我们分析了几个家鼠型Y染色体上的Sry基因，发现它们编码的蛋白质比小家鼠型等位基因SryB6和Sry129小。我们还鉴定出一段三核苷酸重复序列的多态性片段，该片段是导致性反转的品系所特有的，并且表明该位点预测的多聚谷氨酰胺氨基酸序列的特定变化与不同程度的性反转有关。