AUTHOR=Hofstetter Katrina S. , Haas Paula M. , Kuntz Jonathon P. , Zheng Yi , Fuhrmann Sabine TITLE=Loss of Cdc42 causes abnormal optic cup morphogenesis and microphthalmia in mouse JOURNAL=Frontiers in Cellular Neuroscience VOLUME=18 YEAR=2024 URL=https://www.frontiersin.org/journals/cellular-neuroscience/articles/10.3389/fncel.2024.1474010 DOI=10.3389/fncel.2024.1474010 ISSN=1662-5102 ABSTRACT=
Congenital ocular malformations originate from defective morphogenesis during early eye development and cause 25% of childhood blindness. Formation of the eye is a multi-step, dynamic process; it involves evagination of the optic vesicle, followed by distal and ventral invagination, leading to the formation of a two-layered optic cup with a transient optic fissure. These tissue folding events require extensive changes in cell shape and tissue growth mediated by cytoskeleton mechanics and intercellular adhesion. We hypothesized that the Rho GTPase Cdc42 may be an essential, convergent effector downstream of key regulatory factors required for ocular morphogenesis. CDC42 controls actin remodeling, apicobasal polarity, and junction assembly. Here we identify a novel essential function for Cdc42 during eye morphogenesis in mouse; in