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A partial deletion within the meiosis-specific sporulation domain SPO22 of Tex11 is not associated with infertility in mice.

Authors :
Ghieh F
Passet B
Poumerol E
Castille J
Calvel P
Vilotte JL
Sellem E
Jouneau L
Mambu-Mambueni H
Garchon HJ
Pailhoux E
Vialard F
Mandon-Pépin B
Source :
PloS one [PLoS One] 2024 Sep 04; Vol. 19 (9), pp. e0309974. Date of Electronic Publication: 2024 Sep 04 (Print Publication: 2024).
Publication Year :
2024

Abstract

Azoospermia (the complete absence of spermatozoa in the semen) is a common cause of male infertility. The etiology of azoospermia is poorly understood. Whole-genome analysis of azoospermic men has identified a number of candidate genes, such as the X-linked testis-expressed 11 (TEX11) gene. Using a comparative genomic hybridization array, an exonic deletion (exons 10-12) of TEX11 had previously been identified in two non-apparent azoospermic patients. However, the putative impact of this genetic alteration on spermatogenesis and the azoospermia phenotype had not been validated functionally. We therefore used a CRISPR/Cas9 system to generate a mouse model (Tex11Ex9-11del/Y) with a partial TEX11 deletion that mimicked the human mutation. Surprisingly, the mutant male Tex11Ex9-11del/Y mice were fertile. The sperm concentration, motility, and morphology were normal. Similarly, the mutant mouse line's testis transcriptome was normal, and the expression of spermatogenesis genes was not altered. These results suggest that the mouse equivalent of the partial deletion observed in two infertile male with azoospermia has no impact on spermatogenesis or fertility in mice, at least of a FVB/N genetic background and until 10 months of age. Mimicking a human mutation does not necessarily lead to the same human phenotype in mice, highlighting significant differences species.<br />Competing Interests: The authors have declared that no competing interests exist.<br /> (Copyright: © 2024 Ghieh et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Details

Language :
English
ISSN :
1932-6203
Volume :
19
Issue :
9
Database :
MEDLINE
Journal :
PloS one
Publication Type :
Academic Journal
Accession number :
39231187
Full Text :
https://doi.org/10.1371/journal.pone.0309974