mtDNA deletions are flanked by

Range ~60% by short direct repeat sequences: ~30% by imperfect repeats: ~10% by no repeats %
Organism Human Homo sapiens
Reference Craigen WJ. Mitochondrial DNA mutations: an overview of clinical and molecular aspects. Methods Mol Biol. 2012 837: 3-15. p.9 2nd paragraphPubMed ID22215537
Primary Source 42) Samuels DC, Schon EA, Chinnery PF.Two direct repeats cause most human mtDNA deletions. Trends Genet. 2004 Sep20(9):393-8. AND (43) Degoul F et al., Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies. Nucleic Acids Res. 1991 Feb 11 19(3):493-6.PubMed ID15313545, 2011523
Comments At the molecular level, approximately 60% of mtDNA deletions occur in a region of the mtDNA genome that is flanked by short direct repeat sequences, one of which is usually lost during the deletion process, and these have been referred to as class I deletions (42). Such repeats are thought to play a role in the formation of mtDNA deletions. Approximately 30% of mtDNA deletions are flanked by imperfect repeats containing a few mismatches (class II deletions), and about 10% have no repeats at the deletion flanking regions (43).
Entered by Uri M
ID 107230