Mutant mice lacking the p53 C-terminal domain model telomere syndromes.

Abstract excerpt

Mutations in p53, although frequent in human cancers, have not been implicated in telomere-related syndromes. Here, we show that homozygous mutant mice expressing p53Δ31, a p53 lacking the C-terminal domain, exhibit increased p53 activity and suffer from aplastic anemia and pulmonary fibrosis, hallmarks of syndromes caused by short telomeres. Indeed, p53Δ31/Δ31 mice had short telomeres and other phenotypic traits...

Topics

• Animals
• Disease Models, Animal
• Gene Expression
• Humans
• Male
• Mice
• Mice, Mutant Strains
• Mutation
• Protein Structure, Tertiary
• Syndrome
• Telomere