A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

TitleA direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.
Publication TypeJournal Article
Year of Publication1989
AuthorsSchon, EA, Rizzuto, R, Moraes, CT, Nakase, H, Zeviani, M, DiMauro, S
Date Published1989 Apr 21
KeywordsBase Composition, Base Sequence, Chromosome Deletion, DNA, Mitochondrial, Gene Amplification, Humans, Kearns-Sayre Syndrome, Molecular Sequence Data, Ophthalmoplegia, Recombination, Genetic, Repetitive Sequences, Nucleic Acid, RNA, Messenger

Kearns-Sayre syndrome (KSS) and progressive external ophthalmoplegia (PEO) are related neuromuscular disorders characterized by ocular myopathy and ophthalmoplegia. Almost all patients with KSS and about half with PEO harbor large deletions in their mitochondrial genomes. The deletions differ in both size and location, except for one, 5 kilobases long, that is found in more than one-third of all patients examined. This common deletion was found to be flanked by a perfect 13-base pair direct repeat in the normal mitochondrial genome. This result suggests that homologous recombination deleting large regions of intervening mitochondrial DNA, which previously had been observed only in lower eukaryotes and plants, operates in mammalian mitochondrial genomes as well, and is at least one cause of the deletions found in these two related mitochondrial myopathies.

Alternate JournalScience
Citation Key10.1126/science.2711184
PubMed ID2711184
Grant ListNS11766 / NS / NINDS NIH HHS / United States