Naslov
The p53 tumor suppressor permits survival of ribosomal protein L24-deficient mice at the expense of malformations

Autori
Barkić, Martina ; Crnomarković, Slađana ; Volarević, Siniša

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
EMBO Practical Course: Anatomy and Embryology of the Mouse / - Zagreb, 2008, 67-67

Skup
EMBO Practical Course: Anatomy and Embryology of the Mouse

Mjesto i datum
Zagreb, Hrvatska, 06.09.2008. - 14.09.2008

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
ribosomal protein L24; Bst mice; congenital malformations; p53; checkpoint; embryonic development

Sažetak
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 challenge this hypothesis and demonstrate that the Bst phenotype is largely caused by aberrant activation of the p53 tumor suppressor during the restricted period of embryonic development. However, in the absence of p53 a large majority of RPL24Bst/+ embryos die, suggesting that p53 also promotes their survival at the expense of malformations. These results also 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.

Izvorni jezik
Engleski

Znanstvena područja
Biologija

POVEZANOST RADA