title: Direct sequencing of deleted mitochondrial DNA in myopathic patients.
abstract: To investigate the mechanism of mitochondrial DNA deletion in human diseases, we amplified the deleted mitochondrial DNA of five patients with mitochondrial myopathy by using the polymerase chain reaction, and directly sequenced the crossover regions of the deleted mitochondrial DNA without cloning. In Patient 1, a 7-bp directly repeated sequence of 5'-ATCCCCA-3' was found at the boundaries of deleted segment spanning 7,039 bp between the ATPase 6 and the cytochrome b genes. In Patients 2, 3, and 4, a 13-bp sequence of 5'-ACCTCCCTCACCA-3' was found in the boundaries of deleted segment spanning 4,977 bp between the ATPase 8 and the ND5 genes. In Patient 5, a 3-bp sequence of 5'-CCT-3' was found in the boundaries of deleted segment spanning 3,717 bp between the ATPase 6 and the ND5 genes. Similar directly repeated sequences may contribute to mitochondrial DNA deletions in human degenerative diseases.
authors: Department of Biomedical Chemistry, Faculty of Medicine, University of Nagoya, Japan.
authors: M
authors: M
authors: Tanaka
authors: W
authors: W
authors: Sato
authors: K
authors: K
authors: Ohno
authors: T
authors: T
authors: Yamamoto
authors: T
authors: T
authors: Ozawa
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001345:Autoradiography; D001483:Base Sequence; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000235:genetics*; D004259:DNA-Directed DNA Polymerase; D005260:Female; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000378:metabolism*; D008969:Molecular Sequence Data; D009135:Muscular Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial; D004259:DNA-Directed DNA Polymerase