Mutant ZP1 in familial infertility.
Mutant ZP1 in familial infertility.
复制标题
DOI：
10.1056/nejmoa1308851
复制
发表时间：
2014-03-27
期刊：
影响因子：
--
通讯作者：
Xiao HM
中科院分区：
文献类型：
--
作者：
Huang HL;Lv C;Zhao YC;Li W;He XM;Li P;Sha AG;Tian X;Papasian CJ;Deng HW;Lu GX;Xiao HM
人透明质酸由四种糖蛋白（ZP1、ZP2、ZP3和ZP4）组成，在生殖中起重要作用。在这里，我们描述了一种常染色体隐性遗传方式的不育症，其特征是异常的卵子缺乏透明细胞。我们在6个家族成员中发现了ZP1的纯合移码突变。体外研究表明，有缺陷的ZP1蛋白和正常的ZP3蛋白共定位在整个细胞中，并不在细胞表面表达，这表明异常的ZP1导致ZP3在细胞质中的隔离，从而防止卵母细胞周围透明质膜的形成。
The human zona pellucida is composed of four glycoproteins (ZP1, ZP2, ZP3, and ZP4) and has an important role in reproduction. Here we describe a form of infertility with an autosomal recessive mode of inheritance, characterized by abnormal eggs that lack a zona pellucida. We identified a homozygous frameshift mutation in ZP1 in six family members. In vitro studies showed that defective ZP1 proteins and normal ZP3 proteins colocalized throughout the cells and were not expressed at the cell surface, suggesting that the aberrant ZP1 results in the sequestration of ZP3 in the cytoplasm, thereby preventing the formation of the zona pellucida around the oocyte.