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

    This article has 7 authors:
    1. Hui-Juan Jin
    2. Tiechao Ruan
    3. Siyu Dai
    4. Xin-Yan Geng
    5. Yihong Yang
    6. Ying Shen
    7. Su-Ren Chen
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This study provides useful information on the function of a ciliary and flagellar-associated protein, CFAP52, in the assembly of sperm head-tail connecting apparatus (HTCA) and tail formation in humans and mice. The significance is to identify CFAP52 as a genetic factor for asthenoteratozoospermia with a mixed acephalic spermatozoa syndrome (ASS) and multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. The strength of the study is that the experimental evidence using CFAP52 loss-of-function in mice is solid to support that CFAP52 is essential for sperm motility and male fertility by contributing to HTCA and 9+2 axoneme, corroborating the sperm phenotypes of human patients with compound heterozygous mutations in CFAP52.

    Reviewed by eLife

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