Functional modelling of human infertility-associated genetic variants using C. elegans and mice
Omar El Tokhy, Euan Mitchell, Consuelo Barroso, Jennifer Lawson, Owen Richard Davies, Channa Nalin Jayasena, Joris Andre Veltman, Ian R. Adams, Enrique Martínez-Pérez
This study uses C. elegans and mouse models to functionally validate infertility-associated genetic variants in MSH4, showing their pathogenic effects on meiotic processes in both sexes.
bioRxiv · Oct 2, 2026 · PreprintCell Biology