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. 1989 Oct;86(20):8059–8062. doi: 10.1073/pnas.86.20.8059

Directly repeated sequences associated with pathogenic mitochondrial DNA deletions.

D R Johns 1, S L Rutledge 1, O C Stine 1, O Hurko 1
PMCID: PMC298214  PMID: 2813377

Abstract

We determined the nucleotide sequences of junctional regions associated with large deletions of mitochondrial DNA found in four unrelated individuals with a phenotype of chronic progressive external ophthalmoplegia. In each patient, the deletion breakpoint occurred within a directly repeated sequence of 13-18 base pairs, present in different regions of the normal mitochondrial genome-separated by 4.5-7.7 kilobases. In two patients, the deletions were identical. When all four repeated sequences are compared, a consensus sequence of 11 nucleotides emerges, similar to putative recombination signals, suggesting the involvement of a recombinational event. Partially deleted and normal mitochondrial DNAs were found in all tissues examined, but in very different proportions, indicating that these mutations originated before the primary cell layers diverged.

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Selected References

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