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.
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.
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Sry 等位基因（Mus 亚属）的 DNA 序列分析表明错误调节是 C57BL/6J-Y(POS) 性逆转的原因，并定义了 SRY 功能单元。
DOI：
10.1093/genetics/147.3.1267
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发表时间：
1997
期刊：
影响因子：
3.3
通讯作者：
Eicher,EM
中科院分区：
文献类型：
--
作者：
Albrecht,KH;Eicher,EM
对小鼠属四种小鼠的Sry（sex determiningregion，Y染色体）开放阅读框进行测序，以了解某些M染色体的条件性功能障碍。当存在于C57 BL/6 J近交系遗传背景上时，可以通过鉴定嗜热链球菌Sry等位基因来划分功能上重要的蛋白质区域。对22个Sry等位基因进行了测序，大多数来自野生Y染色体，包括11 M。dominusalleles，7个M. muscle等位基因和两个等位基因各来自近缘种M. spicilegusandM. spretus。我们发现HMG结构域（highmobilitygroupDNA bindingdomain，高迁移率族DNA结合结构域）和独特的区域是很保守的，而谷氨酰胺重复簇（glutaminerepeatcluster，GRC）区域是很可变的。在C57 BL/6 J遗传背景下，预测的蛋白质异构体和SRY等位基因允许卵巢组织分化的能力之间没有发现相关性，强烈表明这种性逆转的原因不是SRY蛋白本身，而是SRY表达的调节。此外，我们的种间序列分析提供了令人信服的证据，M。musculus和M.家犬SRY功能域包含在前143个氨基酸，其中包括HMG结构域和相邻的独特区域（UR-2）。
TheSry(sex determiningregion,Ychromosome) open reading frame from mice representing four species of the genus Mus was sequenced in an effort to understand the conditional dysfunction of someM. domesticus Sryalleles when present on the C57BL/6J inbred strain genetic background and to delimit the functionally important protein regions. Twenty-twoSryalleles were sequenced, most from wild-derivedYchromosomes, including 11M. domesticusalleles, sevenM. musculusalleles and two alleles each from the related speciesM. spicilegusandM. spretus. We found that the HMG domain (highmobility group DNA binding domain) and the unique regions are well conserved, while theglutaminerepeatcluster (GRC) region is quite variable. No correlation was found between the predicted protein isoforms and the ability of aSryallele to allow differentiation of ovarian tissue when on the C57BL/6J genetic background, strongly suggesting that the cause of this sex reversal is not theSryprotein itself, but rather the regulation of SRY expression. Furthermore, our interspecies sequence analysis provides compelling evidence that theM. musculusandM. domesticusSRY functional domain is contained in the first 143 amino acids, which includes the HMG domain and adjacentuniqueregion (UR-2).