Rodolphe Dard, Anastasia Tutunaru, Malek Bouassida, Aissatu Balde Camara, Estelle Parizot, Nadim Kassis, Joanne Fortemps, Céline Cierniewski, Chrystèle Racine, Nathalie di Clemente, Francois Vialard, Nathalie Janel
Down syndrome (DS), or Trisomy 21, is the most common chromosomal disorder in humans. Men with DS are infertile. The DYRK1A gene on Hsa21 is involved in several features of DS. Overexpression of the homolog dyrk1A disrupts primordial germ cell migration in zebrafish, and overexpression of Dyrk1A impairs gonadotropic axis function and the early stages of spermatogenesis in the mouse. Other genes on Hsa21 might be involved in the pathogenesis of infertility in DS. We investigated the Dp(16)1Yey mouse model of DS, which features segmental duplication of chromosome Mmu16 (orthologous to a large part of Hsa21 and carrying Dyrk1A and 112 other genes)...
December 1, 2023: Reproduction