POLYMORPHISM OF A CAG TRINUCLEOTIDE REPEAT WITHIN SRY CORRELATES WITH B6.Y-DOM SEX REVERSAL
POLYMORPHISM OF A CAG TRINUCLEOTIDE REPEAT WITHIN SRY CORRELATES WITH B6.Y-DOM SEX REVERSAL
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DOI：
10.1038/ng0394-245
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发表时间：
1994-03-01
期刊：
影响因子：
30.8
通讯作者：
LAU, YFC
中科院分区：
文献类型：
--
作者：
COWARD, P;NAGAI, K;LAU, YFC
将来自某些小家鼠品系的Y染色体繁殖到近交实验室小鼠品系C57 BL/6 J（B6）上，产生雌雄同体的后代。这种菌株依赖性的性逆转表明，可能有显着的等位基因变异的小鼠性别决定基因，Sry。我们已经分析了几个驯化型Y染色体的Sry基因，并表明它们编码的蛋白质比molossin型等位基因Sry（86）和Sry（129）小。我们还鉴定了引起性逆转的菌株所特有的三核苷酸重复序列的多态性片段，并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逆转相关。
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 Sry(86) and Sry(129). 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.