New gene implicated in formation of a normal human sperm tail

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenoteratozoospermia. MMAF to be a genetically heterogeneous disease, in at least one-third of the cases the cause is still not known. This study demonstrates that by using Next Generation Sequencing the gene CFAP58 is mutated in about 5% of individuals in a cohort of 90 men. CFAP58 is predominantly expressed in the testis and encodes a sperm tail associated protein. Their findings strongly suggest that CFAP58 plays a vital role in sperm tail genesis and demonstrate that serious mutations in CFAP58 can cause tail malformations leading to male infertility.



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