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Publication : Sohlh1 loss of function male and female infertility model impacts overall health beyond gonadal dysfunction in mice†.

First Author  Rodríguez-Escribà M Year  2023
Journal  Biol Reprod Volume  108
Issue  4 Pages  619-628
PubMed ID  36723967 Mgi Jnum  J:337483
Mgi Id  MGI:7469722 Doi  10.1093/biolre/ioad008
Citation  Rodriguez-Escriba M, et al. (2023) Sohlh1 loss of function male and female infertility model impacts overall health beyond gonadal dysfunction in mice. Biol Reprod 108(4):619-628
abstractText  Reproductive longevity is associated with health outcomes. Early menopause, loss of ovarian function, and male infertility are linked to shorter lifespan and increased adverse health outcomes. Here we examined the extragonadal effects of whole animal loss of spermatogenesis and oogenesis specific basic helix-loop-helix 1 (Sohlh1) gene in mice, a well-described mouse model of female and male infertility. Sohlh1 encodes a transcription factor that is primarily expressed in the male and female germline and regulates germline differentiation. The Sohlh1 knockout mouse model, just like human individuals with SOHLH1 loss of function, presents with hypergonadotropic hypogonadism and loss of ovarian function in females and impaired spermatogenesis in males, with a seemingly gonad restricted phenotype in both sexes. However, extragonadal phenotyping revealed that Sohlh1 deficiency leads to abnormal immune profiles in the blood and ovarian tissues of female animals, sex-specific alterations of metabolites, and behavior and cognition changes. Altogether, these results show that Sohlh1 deficiency impacts overall health in both male and female mice.
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