On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.

ABSTRACT: Expansions of simple tandem repeats are responsible for almost 50 human diseases, the majority of which are severe, degenerative, and not currently treatable or preventable. In this review, we first describe the molecular mechanisms of repeat-induced toxicity, which is the connecting link between repeat expansions and pathology. We then survey alternative DNA structures that are formed by expandable repeats and review the evidence that formation of these structures is at the core of repeat instability. Next, we describe the consequences of the presence of long structure-forming repeats at the molecular level: somatic and intergenerational instability, fragility, and repeat-induced mutagenesis. We discuss the reasons for gender bias in intergenerational repeat instability and the tissue spe

SUBMITTER: Khristich AN 

PROVIDER: S-EPMC7105313 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature