Article
Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man†.
Biology of reproduction - 25 Jul 2022
Ling Li, Li Fangfang, Yang Pinglan, Oates Robert D, Silber Sherman, Kurischko Cornelia, Luca Francis C, Leu N Adrian, Zhang Jinwen, Yue Qiuling, Skaletsky Helen, Brown Laura G, Rozen Steve G, Page David C, Wang P Jeremy, Zheng Ke
Abstract excerpt
Although hundreds of knockout mice show infertility as a major phenotype, the causative genic mutations of male infertility in humans remain rather limited. Here, we report the identification of a missense mutation (D136G) in the X-linked TAF7L gene as a potential cause of oligozoospermia in men. The human aspartate (D136) is evolutionally conserved across species, and its change to glycine (G) is predicted to be...
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