Overexpression of human SAMD9 inhibits protein translation and alters MYC signaling resulting in cell cycle arrest.

ABSTRACT: Inherited bone marrow failure syndromes often result from pathogenic mutations in genes that are important for ribosome function, namely, Diamond-Blackfan anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita. Germline mutations in SAMD9 are a frequent genetic lesion resulting in an inherited bone marrow failure syndrome with monosomy 7; some patients have severe multisystem syndromes that include myelodysplasia. The association of germline SAMD9 mutations and bone marrow failure is clear; however, to date, there is no reliable method to predict whether a novel SAMD9 mutation is pathogenic unless it is accompanied by an obvious family history and/or clinical syndrome. The difficulty with pathogenicity prediction is, in part, due to the incomplete understanding of the biological fu

SUBMITTER: McSweeney K 

PROVIDER: S-EPMC12042756 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature