RGD Reference Report - Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. - Rat Genome Database

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Authors: Van Goethem, G  Dermaut, B  Lofgren, A  Martin, JJ  Van Broeckhoven, C 
Citation: Van Goethem G, etal., Nat Genet 2001 Jul;28(3):211-2.
RGD ID: 737726
Pubmed: PMID:11431686   (View Abstract at PubMed)
DOI: DOI:10.1038/90034   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
POLGHumanchronic progressive external ophthalmoplegia  IAGP DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)RGD 
PolgRatchronic progressive external ophthalmoplegia  ISOPOLG (Homo sapiens)DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)RGD 
PolgMousechronic progressive external ophthalmoplegia  ISOPOLG (Homo sapiens)DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Polg  (DNA polymerase gamma, catalytic subunit)

Genes (Mus musculus)
Polg  (polymerase (DNA directed), gamma)

Genes (Homo sapiens)
POLG  (DNA polymerase gamma, catalytic subunit)


Additional Information