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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Loss-of-function variants in KCTD19 cause non-obstructive azoospermia in humans

Junyan Liu1, Fazal Rahim1, Jianteng Zhou1

  • 1Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei 230027, China.

Iscience
|July 24, 2023
PubMed
Summary

Genetic variants in KCTD19 cause male infertility by disrupting chromosome segregation during meiosis I. This study identifies KCTD19 as crucial for male fertility and understanding non-obstructive azoospermia.

Keywords:
Biochemistrybiological scienceshealth sciences

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