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Although about 50% of cases are estimated to have a genetic component, the underlying cause often remains undetermined. Here, from whole-exome sequencing on samples from 168 infertile men with asthenoteratozoospermia due to severe sperm flagellum, we identified homozygous\n                    <jats:italic>ZMYND12<\/jats:italic>\n                    variants in four unrelated patients. In sperm cells from these individuals, immunofluorescence revealed altered localization of DNAH1, DNALI1, WDR66, and TTC29. Axonemal localization of ZMYND12 ortholog TbTAX-1 was confirmed using the\n                    <jats:italic>Trypanosoma brucei<\/jats:italic>\n                    model. RNAi knock-down of TbTAX-1 dramatically affected flagellar motility, with a phenotype similar to the sperm from men bearing homozygous\n                    <jats:italic>ZMYND12<\/jats:italic>\n                    variants. Co-immunoprecipitation and ultrastructure expansion microscopy in\n                    <jats:italic>T. brucei<\/jats:italic>\n                    revealed TbTAX-1 to form a complex with TTC29. Comparative proteomics with samples from\n                    <jats:italic>Trypanosoma<\/jats:italic>\n                    and\n                    <jats:italic>Ttc29<\/jats:italic>\n                    KO mice identified a third member of this complex: DNAH1. The data presented revealed that ZMYND12 is part of the same axonemal complex as TTC29 and DNAH1, which is critical for flagellum function and assembly in humans, and\n                    <jats:italic>Trypanosoma<\/jats:italic>\n                    . ZMYND12 is thus a new asthenoteratozoospermia-associated gene, bi-allelic variants of which cause severe flagellum malformations and primary male infertility.\n                  <\/jats:p>","DOI":"10.7554\/elife.87698","type":"journal-article","created":{"date-parts":[[2023,6,12]],"date-time":"2023-06-12T08:30:07Z","timestamp":1686558607000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.87698","source":"Crossref","is-referenced-by-count":20,"title":["Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function"],"prefix":"10.7554","volume":"12","author":[{"given":"Denis","family":"Dacheux","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/057qpr032","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Bordeaux, CNRS","place":["Bordeaux, France"]},{"id":[{"id":"https:\/\/ror.org\/054qv7y42","id-type":"ROR","asserted-by":"publisher"}],"name":"Bordeaux INP, Microbiologie Fondamentale et 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