Moderate Nucleoporin 133 deficiency leads to glomerular damage in zebrafish.

ABSTRACT: Although structural nuclear pore proteins (nucleoporins) are seemingly required in every cell type to assemble a functional nuclear transport machinery, mutations or deregulation of a subset of them have been associated with specific human hereditary diseases. In particular, previous genetic studies of patients with nephrotic syndrome identified mutations in Nup107 that impaired the expression or the localization of its direct partner at nuclear pores, Nup133. In the present study, we characterized the zebrafish nup133 orthologous gene and its expression pattern during larval development. Using a morpholino-mediated gene knockdown, we show that partial depletion of Nup133 in zebrafish larvae leads to the formation of kidney cysts, a phenotype that can be rescued by co-injection of wild typ

SUBMITTER: Cianciolo Cosentino C 

PROVIDER: S-EPMC6426968 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature