From the Institute of Reproduction and Stem Cell Engineering, Central South University (H.-L.H., C.L., W.L., G.-X.L., H.-M.X.), Reproductive and Genetic Hospital of CITIC-Xiangya (W.L., G.-X.L., H.-M.X.), and the First High School of Changsha (X.T.), Changsha, and Xiamen Maternal and Child Health Care Hospital (X.-M.H., P.L.) and PLA Hospital No.174 (A.-G.S.), Xiamen - all in China; the Department of Biostatistics and Bioinformatics, School of Public Health and Tropical Medicine, Tulane University, New Orleans (H.-L.H., Y.-C.Z., H.-W.D.); and the School of Medicine, University of Missouri-Kansas City, Kansas City (C.J.P.).
N Engl J Med. 2014 Mar 27;370(13):1220-6. doi: 10.1056/NEJMoa1308851.
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.
人卵透明带由四种糖蛋白（ZP1、ZP2、ZP3 和 ZP4）组成，在生殖中具有重要作用。本文报道了一种常染色体隐性遗传方式的不育症，其特征是卵子缺乏透明带。我们在 6 名家庭成员中发现 ZP1 基因存在纯合移码突变。体外研究表明，缺陷型 ZP1 蛋白和正常 ZP3 蛋白在整个细胞中都发生共定位，并且不在细胞表面表达，提示异常的 ZP1 将 ZP3 隔离在细胞质中，从而阻止卵母细胞周围透明带的形成。
