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

Journal Article · Sat Mar 01 00:00:00 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, Vol. 40, Issue 2; Other Information: PBD: 1 Mar 1997
• Country of Publication: United States
• Language: English

Related Subjects

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