Morgane Djebar

eLife assessment This valuable study analyzes the role of rpgrip1l encoding a ciliary transition zone component in the development of neuroinflammation and scoliotic phenotypes in zebrafish. Through proteomic and experimental validation in vivo, the authors demonstrated increased Annexin A2 expression and astrogliosis in the brains of scoliosis fish.

Abstract Cilia defects lead to scoliosis in zebrafish, but the underlying pathogenic mechanisms are poorly understood and may diverge depending on the mutated gene. We dissected the mechanisms of scoliosis onset in a zebrafish mutant for the rpgrip1l gene encoding a ciliary transition zone protein. rpgrip1l mutant fish developed scoliosis with near-total penetrance but asynchronous onset in juveniles.