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

Eric A. Schon, Rosario Rizzuto, Carlos T. Moraes, Hirofumi Nakase, Massimo Zeviani, Salvatore DiMauro

Research output: Contribution to journalArticle

468 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)346-349
Number of pages4
JournalScience
Volume244
Issue number4902
Publication statusPublished - 1989

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Mitochondrial Genome
Nucleic Acid Repetitive Sequences
Kearns-Sayre Syndrome
Mitochondrial DNA
Chronic Progressive External Ophthalmoplegia
Mitochondrial Myopathies
Ophthalmoplegia
Homologous Recombination
Muscular Diseases
Eukaryota
Base Pairing

ASJC Scopus subject areas

  • General

Cite this

Schon, E. A., Rizzuto, R., Moraes, C. T., Nakase, H., Zeviani, M., & DiMauro, S. (1989). A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science, 244(4902), 346-349.

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. / Schon, Eric A.; Rizzuto, Rosario; Moraes, Carlos T.; Nakase, Hirofumi; Zeviani, Massimo; DiMauro, Salvatore.

In: Science, Vol. 244, No. 4902, 1989, p. 346-349.

Research output: Contribution to journalArticle

Schon, EA, Rizzuto, R, Moraes, CT, Nakase, H, Zeviani, M & DiMauro, S 1989, 'A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA', Science, vol. 244, no. 4902, pp. 346-349.
Schon EA, Rizzuto R, Moraes CT, Nakase H, Zeviani M, DiMauro S. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science. 1989;244(4902):346-349.
Schon, Eric A. ; Rizzuto, Rosario ; Moraes, Carlos T. ; Nakase, Hirofumi ; Zeviani, Massimo ; DiMauro, Salvatore. / A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. In: Science. 1989 ; Vol. 244, No. 4902. pp. 346-349.
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