Elsevier

Genomics

Volume 36, Issue 3, 15 September 1996, Pages 449-458
Genomics

Regular Article
Cloning and Characterization of the Human Mitochondrial DNA Polymerase, DNA Polymerase γ

https://doi.org/10.1006/geno.1996.0490Get rights and content

Abstract

The nuclear-encoded DNA polymerase γ (DNA POLγ) is the sole DNA polymerase required for the replication of the mitochondrial DNA. We have cloned the cDNA for human DNA POLγ and have mapped the gene to the chromosomal location 15q24. Additionally, the DNA POLγ gene fromDrosophila melanogasterand a partial cDNA for DNA POLγ fromGallus gallushave been cloned. The predicted human DNA POLγ polypeptide is 1239 amino acids, with a calculated molecular mass of 139.5 kDa. The human amino acid sequence is 41.6, 43.0, 48.7, and 77.6% identical to those ofSchizosaccharomyces pombe, Saccharomyces cerevisiae, Drosophila melanogaster,and the C-terminal half ofG. gallus,respectively. Polyclonal antibodies raised against the polymerase portion of the protein reacted specifically with a 140-kDa protein in mitochondrial extracts and immunoprecipitated a protein with DNA POLγ like activity from mitochondrial extracts. The human DNA POLγ is unique in that the first exon of the gene contains a CAG10trinucleotide repeat.

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Sequence data from this article have been deposited with the GenBank/EMBL Data Libraries under Accession Nos. U60325, human; U60298,D. melanogaster;and U60297,G. gallus.

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