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Despite multiple genes found to be associated with human NOA, the genetic basis of this idiopathic disease remains largely unknown. FBXO43 is a direct inhibitor of the anaphase\u2010promoting complex\/cyclosome (APC\/C) E3 ligase and crucially important in mouse spermatogenesis. In this study, for the first time, we identified a homozygous nonsense mutation in\n                    <jats:italic>FBXO43<\/jats:italic>\n                    c.1747C\u2009&gt;\u2009T:p.Gln583X in two NOA brothers from a Chinese consanguineous family via whole\u2010exome sequencing. FBXO43 was absent from testicular tissue of the proband, and FBXO43\u2010immunostaining signals were invisible in the affected seminiferous tubules. Furthermore, in humans, FBXO43 defects cause meiotic arrest within early diplotene of prophase I. The results here demonstrate the pathogenicity of this loss\u2010of\u2010function mutation and confirmed that spermatocytes were unable to complete meiotic divisions without FBXO43 in humans. In mouse testicular protein extracts, three subunits of the APC\/C, including ANAPC2, ANAPC8 and ANAPC10, were validated to interact directly with FBXO43, whereas no interactions were detected for FBXO43 and SKP1. This study furthers our understanding of the genetic basis of human NOA and provides insights into FBXO43 and male infertility.\n                  <\/jats:p>","DOI":"10.1111\/cge.14069","type":"journal-article","created":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T11:01:18Z","timestamp":1633086078000},"page":"55-64","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["A homozygous loss\u2010of\u2010function mutation in\n                    <scp>\n                      <i>FBXO43<\/i>\n                    <\/scp>\n                    causes human non\u2010obstructive azoospermia"],"prefix":"10.1111","volume":"101","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0009-3839","authenticated-orcid":false,"given":"Huan","family":"Wu","sequence":"first","affiliation":[{"name":"Reproductive Medicine Center, Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui Medical University  Hefei 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