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Here, we report\n                    <jats:italic>CEP78<\/jats:italic>\n                    as a causative gene of a particular syndrome including CRD and male infertility with multiple morphological abnormalities of sperm flagella (MMAF) both in human and mouse.\n                    <jats:italic>Cep78<\/jats:italic>\n                    knockout mice exhibited impaired function and morphology of photoreceptors, typified by reduced ERG amplitudes, disrupted translocation of cone arrestin, attenuated and disorganized photoreceptor outer segments (OS) disks and widen OS bases, as well as interrupted connecting cilia elongation and abnormal structures.\n                    <jats:italic>Cep78<\/jats:italic>\n                    deletion also caused male infertility and MMAF, with disordered \u20189+2\u2019 structure and triplet microtubules in sperm flagella. Intraflagellar transport (IFT) proteins IFT20 and TTC21A are identified as interacting proteins of CEP78. Furthermore, CEP78 regulated the interaction, stability, and centriolar localization of its interacting protein. Insufficiency of CEP78 or its interacting protein causes abnormal centriole elongation and cilia shortening. Absence of CEP78 protein in human caused similar phenotypes in vision and MMAF as\n                    <jats:italic>\n                      Cep78\n                      <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    <\/jats:italic>\n                    mice. Collectively, our study supports the important roles of\n                    <jats:italic>CEP78<\/jats:italic>\n                    defects in centriole and ciliary dysfunctions and molecular pathogenesis of such multi-system syndrome.\n                  <\/jats:p>","DOI":"10.7554\/elife.76157","type":"journal-article","created":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T03:15:25Z","timestamp":1675912525000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.76157","source":"Crossref","is-referenced-by-count":20,"title":["Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual"],"prefix":"10.7554","volume":"12","author":[{"given":"Tianyu","family":"Zhu","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/059gcgy73","id-type":"ROR","asserted-by":"publisher"}],"name":"State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, Gusu School, Nanjing Medical University","place":["Nanjing, 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