An autosomal locus predisposing to deletions of mitochondrial DNA.
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.
Suomalainen
A
A
National Public Health Institute, Department of Human Molecular Genetics, Helsinki, Finland.
Kaukonen
J
J
Amati
P
P
Timonen
R
R
Haltia
M
M
Weissenbach
J
J
Zeviani
M
M
Somer
H
H
Peltonen
L
L
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
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