Ophthalmology Commons^™

Mutations In Arl2bp, A Protein Required For Ciliary Microtubule Structure, Cause Syndromic Male Infertility In Humans And Mice, Abigal R. Moye, Nicola Bedoni, Jessica G. Cunningham, Urikhan Sanzhaeva, Eric S. Tucker, Peter Mathers, Virginie G. Peter, Mathieu Quinodoz, Liliana P. Paris, Luisa Coutinho-Santos, Pedro Camacho, Madeleine G. Purcell, Abbie C. Winkelmann, James A. Foster, Elena N. Pugacheva, Carlo Rivolta, Visvanathan Ramamurthy

Faculty & Staff Scholarship

Cilia are evolutionarily conserved hair-like structures with a wide spectrum of key biological roles, and their dysfunction has been linked to a growing class of genetic disorders, known collectively as ciliopathies. Many strides have been made towards deciphering the molecular causes for these diseases, which have in turn expanded the understanding of cilia and their functional roles. One recently-identified ciliary gene is ARL2BP, encoding the ADP-Ribosylation Factor Like 2 Binding Protein. In this study, we have identified multiple ciliopathy phenotypes associated with mutations in ARL2BP in human patients and in a mouse knockout model. Our research demonstrates that spermiogenesis …