Identification of a New QTL Region on Mouse Chromosome 1 Responsible for Male Hypofertility: Phenotype Characterization and Candidate Genes

Magalie Vatin (1) , Marie-Sophie Girault (1) , Virginie Firlej (2) , Carmen Marchiol (1) , Côme Ialy-Radio (1) , Xavier Montagutelli (3) , Daniel Vaiman (1) , Sandrine Barbaux (1) , Ahmed Ziyyat (1, 4)

1 IC UM3 (UMR 8104 / U1016) - Institut Cochin
2 TRePCa - Résistances Thérapeutiques du Cancer de la Prostate
3 Génétique de la souris - Mouse Genetics
4 CECOS Paris Cochin - Service d'Histologie-Embryologie, Biologie de la Reproduction

Male fertility disorders often have their origin in disturbed spermatogenesis, which can be induced by genetic factors. In this study, we used interspecific recombinant congenic mouse strains (IRCS) to identify genes responsible for male infertility. Using ultrasonography, in vivo and in vitro fertilization (IVF) and electron microscopy, the phenotyping of several IRCS carrying mouse chromosome 1 segments of Mus spretus origin revealed a decrease in the ability of sperm to fertilize. This teratozoospermia included the abnormal anchoring of the acrosome to the nucleus and a persistence of residual bodies at the level of epididymal sperm midpiece. We identified a quantitative trait locus (QTL) responsible for these phenotypes and we have proposed a short list of candidate genes specifically expressed in spermatids. The future functional validation of candidate genes should allow the identification of new genes and mechanisms involved in male infertility.

Keywords: infertility; spermatogenesis; teratozoospermia; globozoospermia; IRCS; Mouse Model

Domains: Animal genetics

Magalie Vatin, Marie-Sophie Girault, Virginie Firlej, Carmen Marchiol, Côme Ialy-Radio, et al.. Identification of a New QTL Region on Mouse Chromosome 1 Responsible for Male Hypofertility: Phenotype Characterization and Candidate Genes. International Journal of Molecular Sciences, 2020, 21 (22), pp.8506. ⟨10.3390/ijms21228506⟩. ⟨pasteur-03011358⟩