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Science 21 April 1989:
Vol. 244. no. 4902, pp. 346 - 349
DOI: 10.1126/science.2711184
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Articles
Science, Vol 244, Issue 4902, 346-349
Copyright © 1989 by American Association for the Advancement of Science
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA
EA Schon,
R Rizzuto,
CT Moraes,
H Nakase,
M Zeviani,
and
S DiMauro
Department of Neurology, Columbia University, New York, NY 10032.
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.
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