engleski

The p53 tumor suppressor causes congenital malformations in Rpl24-deficient mice and promotes their survival

Hypomorphic mutation in one allele of ribosomal protein l24 gene (Rpl24) is responsible for the Belly Spot and Tail (Bst) mouse, which suffers from defects of the eye, skeleton, and coat pigmentation. It has been hypothesized that these pathological manifestations result exclusively from faulty protein synthesis. Herein, we demonstrate that up-regulation of the p53 tumor suppressor during the restricted period of embryonic development significantly contributes to the Bst phenotype. However, in the absence of p53 a large majority of Rpl24Bst/+ embryos die. We showed that p53 promotes survival of these mice via p21-dependent mechanism. Our results imply that activation of a p53-dependent checkpoint mechanism in response to various RP deficiencies might play a role in the pathogenesis of congenital malformations in humans.

ribosomal protein L24; cell cycle; cell growth; mouse embryonic development; p53 checkpoint control

Rad je kao poster prezentiran na skupu Congress of the Croatian Society of Biochemistry and Molecular Biology with international participation (HDBMB 2008), održanom od 17.-20.09.2008., Osijek, Hrvatska ; objavljen je u Knjizi sazetaka / Ivica Strelec ; Ljubica Glavaš-Obrovac (ur.) ; Zagreb : Croatian Society of Biochemistry and Molecular Biology, 2008 ; str. 75-75 ; ISBN 978-953-95551-2-0.