Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.

ABSTRACT: Telomeres are DNA-protein structures that form a protective cap on chromosome ends. As such, they prevent the natural ends of linear chromosomes from being subjected to DNA repair activities that would result in telomere fusion, degradation, or recombination. Both the DNA and protein components of the telomere are required for this essential function, because insufficient telomeric DNA length, loss of the terminal telomeric DNA structure, or deficiency of key telomere-associated factors may elicit a DNA damage response and result in cellular senescence or apoptosis. In the setting of failed checkpoint mechanisms, such DNA-protein defects can also lead to genomic instability through telomere fusions or recombination. Thus, as shown in both model systems and in humans, defects in telomere bi

SUBMITTER: Gramatges MM 

PROVIDER: S-EPMC3834083 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature