Research ArticleINFERTILITY

A pannexin 1 channelopathy causes human oocyte death

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Science Translational Medicine  27 Mar 2019:
Vol. 11, Issue 485, eaav8731
DOI: 10.1126/scitranslmed.aav8731

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A vital gene for oocytes

Infertility is common in both males and females, but the biological causes of female infertility are not as well understood. Sang et al. identified four families with inherited female infertility and a similar phenotype that presents with oocyte death in vitro, either before or shortly after fertilization. The authors found that this phenotype was caused by mutations in pannexin 1, a channel protein involved in cellular communication. The authors examined the mechanism of pathogenesis associated with these mutations and showed that a patient-derived mutation causes the same pattern of oocyte death in a mouse model, providing a possible target for therapeutic development.

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