Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man†.

Autor:	Ling L; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China., Li F; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China., Yang P; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China., Oates RD; Department of Urology, Boston University Medical Center, Boston, MA, USA., Silber S; Infertility Center of St. Louis, St. Luke's Hospital, St. Louis, MO, USA., Kurischko C; Department of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA, USA., Luca FC; Department of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA, USA., Leu NA; Department of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA, USA., Zhang J; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China., Yue Q; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China., Skaletsky H; Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA., Brown LG; Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA., Rozen SG; Centre for Computational Biology, Duke-NUS Graduate Medical School, Singapore., Page DC; Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA., Wang PJ; Department of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA, USA., Zheng K; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
Jazyk:	angličtina
Zdroj:	Biology of reproduction [Biol Reprod] 2022 Jul 25; Vol. 107 (1), pp. 157-167.
DOI:	10.1093/biolre/ioac093
Abstrakt:	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. (© 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.)
Databáze:	MEDLINE
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