Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
Top Cited Papers
- 1 July 2001
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 28 (3), 211-212
- https://doi.org/10.1038/90034
Abstract
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are rare human diseases. We mapped a new locus for dominant PEO at 15q22-q26 in a Belgian pedigree and identified a heterozygous mutation (Y955C) in the polymerase motif B of the mtDNA polymerase gamma (POLG). We identified three additional POLG missense mutations compatible with recessive PEO In two nuclear families. POLG is the only DNA polymerase responsible for mtDNA replication.Keywords
This publication has 17 references indexed in Scilit:
- Role of Adenine Nucleotide Translocator 1 in mtDNA MaintenanceScience, 2000
- In Vivo Functional Analysis of the Human Mitochondrial DNA Polymerase POLG Expressed in Cultured Human CellsJournal of Biological Chemistry, 2000
- Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNAJournal of Medical Genetics, 2000
- A Third Locus Predisposing to Multiple Deletions of mtDNA in Autosomal Dominant Progressive External OphthalmoplegiaAmerican Journal of Human Genetics, 1999
- Unusual presentation and clinical variability in Belgian pedigrees with progressive external ophthalmoplegia and multiple deletions of mitochondrial DNAEuropean Journal of Neurology, 1997
- Crystal Structure of a pol α Family Replication DNA Polymerase from Bacteriophage RB69Cell, 1997
- Cloning and Characterization of the Human Mitochondrial DNA Polymerase, DNA Polymerase γGenomics, 1996
- Multiple mitochondria1 DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathyNeurology, 1996
- An autosomal locus predisposing to deletions of mitochondrial DNANature Genetics, 1995
- An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop regionNature, 1989