Directly repeated sequences associated with pathogenic mitochondrial DNA deletions.

• DOI: 10.1073/pnas.86.20.8059
• Publication Date: 2006-05-31T11:05:49Z
• Authors: D R Johns; S L Rutledge; O C Stine; O Hurko
• Keywords: Breakpoint; Sequence (biology); Repeated sequence

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