Title | An autosomal locus predisposing to deletions of mitochondrial DNA. |
Publication Type | Journal Article |
Year of Publication | 1995 |
Authors | Suomalainen, A, Kaukonen, J, Amati, P, Timonen, R, Haltia, M, Weissenbach, J, Zeviani, M, Somer, H, Peltonen, L |
Journal | Nat Genet |
Volume | 9 |
Issue | 2 |
Pagination | 146-51 |
Date Published | 1995 Feb |
ISSN | 1061-4036 |
Keywords | Base 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 |
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. |
DOI | 10.1038/ng0295-146 |
Alternate Journal | Nat. Genet. |
Citation Key | 10.1038/ng0295-146 |
PubMed ID | 7719341 |
Grant List | 456 / / Telethon / Italy |