A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25

Journal Article · Sat Mar 01 04:00:00 EST 1997 · Genomics

DOI:https://doi.org/10.1006/geno.1996.4580· OSTI ID:518491

Walker, R L; Meltzer, P S ^[1]; Anziano, P ^[2]

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1. National Inst. of Health, Bethesda, MD (United States)
2. Univ. of Nevada, Reno, NV (United States)

The human mitochondrial DNA (mtDNA) is a closed circular, 16,569-bp double-stranded DNA, encoding 13 genes whose protein products are subunits of the oxidative phosphorylation system required for synthesis of most of the ATP consumed by eukaryotic cells. Point mutations of the mtDNA that cause multi-tissue, loss-of-energy syndromes, called mitochondrial encephalomyopathies (e.g., MERRF and MELAS), have been identified. In addition, large-scale deletions of the human mtDNA have been identified and are the molecular bases for the neonatal and adolescent onset loss-of-energy syndromes Pearson and Kearns-Sayer, respectively. 5 refs., 1 fig.

• OSTI ID: 518491
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 40; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AGE DEPENDENCE
ATP
BIOSYNTHESIS
DNA POLYMERASES
DNA SEQUENCING
DNA-CLONING
ETIOLOGY
FLUORESCENCE
GENE MUTATIONS
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 15
IN-SITU HYBRIDIZATION
MITOCHONDRIA
OLIGONUCLEOTIDES
PHOSPHORYLATION
POLYMERASE CHAIN REACTION
SOMATIC MUTATIONS