SBDS^R126T rescues survival of sbds ^-/- zebrafish in a dose-dependent manner independently of Tp53.

ABSTRACT: Defects in ribosomal biogenesis profoundly affect organismal development and cellular function, and these ribosomopathies produce a variety of phenotypes. One ribosomopathy, Shwachman-Diamond syndrome (SDS) is characterized by neutropenia, pancreatic exocrine insufficiency, and skeletal anomalies. SDS results from biallelic mutations in SBDS, which encodes a ribosome assembly factor. Some individuals express a missense mutation, SBDS ^R126T , along with the common K62X mutation. We reported that the sbds-null zebrafish phenocopies much of SDS. We further showed activation of Tp53-dependent pathways before the fish died during the larval stage. Here, we expressed SBDS ^R126T as a transgene in the sbds ^-/-

SUBMITTER: Oyarbide U 

PROVIDER: S-EPMC10565674 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature