西亚试剂：Mutant ZP1 in Familial Infertility

Mutant ZP1 in Familial Infertility

Hua-Lin Huang， M.D.， Chao Lv， M.D.， Ying-Chun Zhao， Ph.D.， Wen Li， Ph.D.， Xue-Mei He， M.D.， Ping Li， M.D.， Ai-Guo Sha， M.D.， Xiao Tian， Christopher J. Papasian， Ph.D.， Hong-Wen Deng， Ph.D.， Guang-Xiu Lu， M.D.， and Hong-Mei Xiao， M.D.， Ph.D.

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.

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