• PMID: 30649198
• Gene Name: RNF216
• Condition: Spermatogenesis defects, Male infertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility

RNF216 is essential for spermatogenesis and male fertility†

Melnick AF, Gao Y, Liu J, Ding D, Predom A, Kelly C, Hess RA, Chen C.

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. CI - © The Author(s) 2019. Published by Oxford University Press on behalf of Society for the Study of Reproduction. FAU - Melnick, Ashley F AU - Melnick AF AD - Department of Animal Science, Michigan State University, East Lansing, Michigan, USA. FAU - Gao, Yuen AU - Gao Y AD - Department of Animal Science, Michigan State University, East Lansing, Michigan, USA. FAU - Liu, Jiali AU - Liu J AD - Department of Animal Science, Michigan State University, East Lansing, Michigan, USA. AD - State Key Laboratory of Agrobiotechnology, College of Biological Sciences, China Agricultural University, Beijing, China. FAU - Ding, Deqiang AU - Ding D AD - Department of Animal Science, Michigan State University, East Lansing, Michigan, USA. FAU - Predom, Alicia AU - Predom A AD - Department of Animal Science, Michigan State University, East Lansing, Michigan, USA. FAU - Kelly, Catherine AU - Kelly C AD - Department of Animal Science, Michigan State University, East Lansing, Michigan, USA. FAU - Hess, Rex A AU - Hess RA AD - Department of Comparative Biosciences, College of Veterinary Medicine, University of Illinois, Urbana, Illinois, USA.