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bioRxiv · 10.1101/2023.10.08.561407

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development

Jin, H.-J.·Ruan, T.·Dai, S.·Geng, X.-Y.·Yang, Y.·Shen, Y.·Chen, S.-R.
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Abstract

Male infertility is a worldwide population health concern. Asthenoteratozoospermia is a common cause of male infertility, but its etiology remains incompletely understood. No evidence indicates the relevance of CFAP52 mutations to human male infertility. Our whole-exome sequencing identified compound heterozygous mutations in CFAP52 recessively cosegregating with male infertility status in a non-consanguineous Chinese family. Spermatozoa of CFAP52-mutant patient mainly exhibited abnormal head-tail connection and deformed flagella. Cfap52-knockout mice resembled the human infertile phenotype, showing a mixed acephalic spermatozoa syndrome (ASS) and multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. The ultrastructural analyses further revealed a failure of connecting piece formation and a serious disorder of 9+2 axoneme structure. CFAP52 interacts with a head-tail coupling regulator SPATA6 and is essential for its stability. Expression of microtubule inner proteins and radial spoke proteins were reduced after the CFAP52 deficiency. Moreover, CFAP52-associated male infertility in humans and mice could be overcome by ICSI. The study reveals a prominent role for CFAP52 in sperm development, suggesting that CFAP52 might be a novel diagnostic target for male infertility with defects of sperm head-tail connection and flagella development

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Jin, H.-J., Ruan, T., Dai, S., Geng, X.-Y., Yang, Y., Shen, Y., Chen, S.-R.. 2023-10-10. Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development. https://doi.org/10.1101/2023.10.08.561407

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