Modeling primary ovarian insufficiency-associated loci in C. elegans identifies novel pathogenic allele of MSH5.
Nicolas MacaisneMaria Sol TouzonAleksander RajkovicJudith L YanowitzPublished in: Journal of assisted reproduction and genetics (2022)
These studies further implicate MSH5 as a POI gene and c.C1051G; p.R351G variant as likely playing a functional role in mammalian meiosis. This approach also highlights the ability of model organisms, such as C. elegans, to rapidly and inexpensively identify alleles of interest for further studies in mammalian models.