Mutant ZP1 in Familial Infertility
N Engl J Med 2014; 370:1220-1226, March 27, 2014
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.


Short description:
The zona pellucida is a clear, gelatinous matrix that surrounds the ovum and is essential to fertilization. Four sisters with primary infertility were found to harbor a mutation affecting one of the ZP proteins.
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Abstract taken from PubMed

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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