title: An autosomal locus predisposing to deletions of mitochondrial DNA.
abstract: The molecular mechanisms by which the nuclear genome regulates the biosynthesis of mitochondrial DNA (mtDNA) are only beginning to be unravelled. A naturally occurring in vivo model for a defect in this cross-talk of two physically separate genomes is a human disease, an autosomal dominant progressive external ophthalmoplegia, in which multiple deletions of mtDNA accumulate in the patients' tissues. The assignment of this disease locus to 10q 23.3-24.3 is the first direct evidence for involvement of both nuclear and mitochondrial genomes in a single disorder.
authors.affiliation: National Public Health Institute, Department of Human Molecular Genetics, Helsinki, Finland.
authors.forename: A
authors.initials: A
authors.lastname: Suomalainen
authors.forename: J
authors.initials: J
authors.lastname: Kaukonen
authors.forename: P
authors.initials: P
authors.lastname: Amati
authors.forename: R
authors.initials: R
authors.lastname: Timonen
authors.forename: M
authors.initials: M
authors.lastname: Haltia
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: M
authors.initials: M
authors.lastname: Zeviani
authors.forename: H
authors.initials: H
authors.lastname: Somer
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D001483:Base Sequence; D015984:Causality; D002869:Chromosome Aberrations / Q000453:epidemiology / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D004272:DNA, Mitochondrial / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D018740:Genetic Heterogeneity; D005819:Genetic Markers; D006801:Humans; D008297:Male; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D004268:DNA-Binding Proteins; D005819:Genetic Markers; D024101:Mitochondrial Proteins; D009687:Nuclear Proteins; C499631:TFAM protein, human; D014157:Transcription Factors; C422562:mitochondrial transcription factor A