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Mutant ZP1 in familial infertility.

ABSTRACT: 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.

SUBMITTER: Huang HL

PROVIDER: S-EPMC4076492 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature

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Mutant ZP1 in familial infertility.

Huang Hua-Lin HL Lv Chao C Zhao Ying-Chun YC Li Wen W He Xue-Mei XM Li Ping P Sha Ai-Guo AG Tian Xiao X Papasian Christopher J CJ Deng Hong-Wen HW Lu Guang-Xiu GX Xiao Hong-Mei HM

The New England journal of medicine 20140301 13

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 surfa ...[more]

PMID: 24670168

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