An appraisal of human mitochondrial DNA instability: new insights into the role of non-canonical DNA structures and sequence motifs.

ABSTRACT: Mitochondrial DNA (mtDNA) deletion mutations are frequently observed in aged postmitotic tissues and are the cause of a wide range of human disorders. Presently, the molecular bases underlying mtDNA deletion formation remain a matter of intense debate, and it is commonly accepted that several mechanisms contribute to the spectra of mutations in the mitochondrial genome. In this work we performed an extensive screening of human mtDNA deletions and evaluated the association between breakpoint density and presence of non-canonical DNA elements and over-represented sequence motifs. Our observations support the involvement of helix-distorting intrinsically curved regions and long G-tetrads in eliciting instability events. In addition, higher breakpoint densities were consistently observed withi

SUBMITTER: Oliveira PH 

PROVIDER: S-EPMC3612095 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature