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

doi:10.1093/biolre/ioac093

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Journal Article › peer-review

3 Scopus citations

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.

Original language	English
Pages (from-to)	157-167
Number of pages	11
Journal	Biology of Reproduction
Volume	107
Issue number	1
DOIs	https://doi.org/10.1093/biolre/ioac093
State	Published - 01 07 2022
Externally published	Yes

Bibliographical note

Publisher Copyright:
© 2022 The Author(s). Published by Oxford University Press on behalf of Society for the Study of Reproduction. All rights reserved.

Keywords

Characterization of missense mutation in TAF7L gene
infertility
oligozoospermia
spermatogenesis
TAF7L
transcription factor
X chromosome

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10.1093/biolre/ioac093

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Ling, L., Li, F., Yang, P., Oates, R. D., Silber, S., Kurischko, C., Luca, F. C., Leu, N. A., Zhang, J., Yue, Q., Skaletsky, H., Brown, L. G., Rozen, S. G., Page, D. C., Wang, P. J., & Zheng, K. (2022). Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man. Biology of Reproduction, 107(1), 157-167. https://doi.org/10.1093/biolre/ioac093

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title = "Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man",

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.",

keywords = "Characterization of missense mutation in TAF7L gene, infertility, oligozoospermia, spermatogenesis, TAF7L, transcription factor, X chromosome",

author = "Li Ling and Fangfang Li and Pinglan Yang and Oates, \{Robert D.\} and Sherman Silber and Cornelia Kurischko and Luca, \{Francis C.\} and Leu, \{N. Adrian\} and Jinwen Zhang and Qiuling Yue and Helen Skaletsky and Brown, \{Laura G.\} and Rozen, \{Steve G.\} and Page, \{David C.\} and Wang, \{P. Jeremy\} and Ke Zheng",

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doi = "10.1093/biolre/ioac093",

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Ling, L, Li, F, Yang, P, Oates, RD, Silber, S, Kurischko, C, Luca, FC, Leu, NA, Zhang, J, Yue, Q, Skaletsky, H, Brown, LG, Rozen, SG, Page, DC, Wang, PJ & Zheng, K 2022, 'Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man', Biology of Reproduction, vol. 107, no. 1, pp. 157-167. https://doi.org/10.1093/biolre/ioac093

TY - JOUR

T1 - Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man

AU - Ling, Li

AU - Li, Fangfang

AU - Yang, Pinglan

AU - Oates, Robert D.

AU - Silber, Sherman

AU - Kurischko, Cornelia

AU - Luca, Francis C.

AU - Leu, N. Adrian

AU - Zhang, Jinwen

AU - Yue, Qiuling

AU - Skaletsky, Helen

AU - Brown, Laura G.

AU - Rozen, Steve G.

AU - Page, David C.

AU - Wang, P. Jeremy

AU - Zheng, Ke

PY - 2022/7/1

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N2 - 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.

AB - 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.

KW - Characterization of missense mutation in TAF7L gene

KW - infertility

KW - oligozoospermia

KW - spermatogenesis

KW - TAF7L

KW - transcription factor

KW - X chromosome

UR - https://www.scopus.com/pages/publications/85135282448

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DO - 10.1093/biolre/ioac093

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AN - SCOPUS:85135282448

SN - 0006-3363

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JO - Biology of Reproduction

JF - Biology of Reproduction

IS - 1

ER -

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

Abstract

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Keywords

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