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Common genetic variation in KATNAL1 non‐coding regions is involved in the susceptibility to severe phenotypes of male infertility

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Previous studies in animal models evidenced that genetic mutations of KATNAL1, resulting in dysfunction of its encoded protein, lead to male infertility through disruption of microtubule remodelling and premature germ… Click to show full abstract

Previous studies in animal models evidenced that genetic mutations of KATNAL1, resulting in dysfunction of its encoded protein, lead to male infertility through disruption of microtubule remodelling and premature germ cell exfoliation. Subsequent studies in humans also suggested a possible role of KATNAL1 single‐nucleotide polymorphisms in the development of male infertility as a consequence of severe spermatogenic failure.

Keywords: genetic variation; common genetic; variation katnal1; infertility; male infertility

Journal Title: Andrology
Year Published: 2022

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