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11 May 2022 Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man
Li Ling, Fangfang Li, Pinglan Yang, Robert D. Oates, Sherman Silber, Cornelia Kurischko, Francis C. Luca, N. Adrian Leu, Jinwen Zhang, Qiuling Yue, Helen Skaletsky, Laura G. Brown, Steve G. Rozen, David C. Page, P. Jeremy Wang, Ke Zheng
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Abstract

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 detrimental. Genetic complementation experiments in budding yeast demonstrate that the conserved aspartate or its analogous asparagine (N) residue in yeast TAF7 is essential for cell viability and thus its mutation to G is lethal. Although the corresponding D144G substitution in the mouse Taf7l gene does not affect male fertility, RNA-seq analyses reveal alterations in transcriptomic profiles in the Taf7l (D144G) mutant testes. These results support TAF7L mutation as a risk factor for oligozoospermia in humans.

Summary Sentence

A sequencing screen of infertile men identifies a missense mutation in the human TAF7L gene.

© The Author(s) 2022. Published by Oxford University Press on behalf of Society for the Study of Reproduction. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com
Li Ling, Fangfang Li, Pinglan Yang, Robert D. Oates, Sherman Silber, Cornelia Kurischko, Francis C. Luca, N. Adrian Leu, Jinwen Zhang, Qiuling Yue, Helen Skaletsky, Laura G. Brown, Steve G. Rozen, David C. Page, P. Jeremy Wang, and Ke Zheng "Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man," Biology of Reproduction 107(1), 157-167, (11 May 2022). https://doi.org/10.1093/biolre/ioac093
Received: 26 December 2021; Accepted: 2 May 2022; Published: 11 May 2022
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KEYWORDS
Characterization of missense mutation in TAF7L gene
infertility
Oligozoospermia
spermatogenesis
TAF7L
transcription factor
X chromosome
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