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Article Dans Une Revue (Data Paper) PLoS ONE Année : 2024

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

Bruno Passet
Pierre Calvel

Résumé

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 (Tex11 Ex9-11del/Y ) with a partial TEX11 deletion that mimicked the human mutation. Surprisingly, the mutant male Tex11 Ex9- 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.
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hal-04690669 , version 1 (06-09-2024)

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Domaine public

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Farah Ghieh, Bruno Passet, Elodie Poumerol, Johan Castille, Pierre Calvel, et al.. A partial deletion within the meiosis-specific sporulation domain SPO22 of Tex11 is not associated with infertility in mice. PLoS ONE, 2024, 19 (9), pp.e0309974. ⟨10.1371/journal.pone.0309974⟩. ⟨hal-04690669⟩
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