An autosomal locus predisposing to deletions of mitochondrial DNA.

TitleAn autosomal locus predisposing to deletions of mitochondrial DNA.
Publication TypeJournal Article
Year of Publication1995
AuthorsSuomalainen, A, Kaukonen, J, Amati, P, Timonen, R, Haltia, M, Weissenbach, J, Zeviani, M, Somer, H, Peltonen, L
JournalNat Genet
Date Published1995 Feb
KeywordsBase Sequence, Causality, Chromosome Aberrations, Chromosome Disorders, Chromosome Mapping, Chromosomes, Human, Pair 10, DNA, Mitochondrial, DNA-Binding Proteins, Female, Gene Deletion, Genetic Heterogeneity, Genetic Markers, Humans, Male, Mitochondrial Proteins, Molecular Sequence Data, Nuclear Proteins, Ophthalmoplegia, Chronic Progressive External, Pedigree, Transcription Factors

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.

Alternate JournalNat. Genet.
Citation Key10.1038/ng0295-146
PubMed ID7719341
Grant List456 / / Telethon / Italy