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Updated: Jan 27, 2026
Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
Published on: April 10, 2018
A pannexin 1 channelopathy causes human oocyte death
Qing Sang1, Zhihua Zhang2, Juanzi Shi3
1Zhongshan Hospital, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China. wangleiwanglei@fudan.edu.cn kuangyanp@126.com sangqing@fudan.edu.cn.
Abstract:
Connexins and pannexins are two protein families that play an important role in cellular communication. Pannexin 1 (PANX1), one of the members of pannexin family, is a channel protein. It is glycosylated and forms three species, GLY0, GLY1, and GLY2. Here, we describe four independent families in which mutations in PANX1 cause familial or sporadic female infertility via a phenotype that we term "oocyte death." The mutations, which are associated with oocyte death, alter the PANX1 glycosylation pattern, influence the subcellular localization of PANX1 in cultured cells, and result in aberrant PANX1 channel activity, ATP release in oocytes, and mutant PANX1 GLY1. Overexpression of a patient-derived mutation in mice causes infertility, recapitulating the human oocyte death phenotype. Our findings demonstrate the critical role of PANX1 in human oocyte development, provide a genetic explanation for a subtype of infertility, and suggest a potential target for therapeutic intervention for this disease.
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