| Literature DB >> 30649198 |
Ashley F Melnick1, Yuen Gao1, Jiali Liu1,2, Deqiang Ding1, Alicia Predom1, Catherine Kelly1, Rex A Hess3, Chen Chen1,4,5.
Abstract
Ring finger protein 216 (RNF216) belongs to the RING family of E3 ubiquitin ligases that are involved in cellular protein degradation. Mutations in human Rnf216 gene have been identified in Gordon Holmes syndrome, which is defined by ataxia, dementia, and hypogonadotropism. However, the gene function of Rnf216 in mammalian species remains unknown. Here, we show that targeted deletion of Rnf216 in mice results in disruption in spermatogenesis and male infertility. RNF216 is not required for female fertility. These findings reveal an essential function of RNF216 in spermatogenesis and male fertility and suggest a critical role for RNF216 in human gonadal development.Entities:
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Year: 2019 PMID: 30649198 PMCID: PMC6698654 DOI: 10.1093/biolre/ioz006
Source DB: PubMed Journal: Biol Reprod ISSN: 0006-3363 Impact factor: 4.285