Molecular instability in the COII-tRNA(Lys) intergenic region of the human mitochondrial genome: multiple origins of the 9-bp deletion and heteroplasmy for expanded repeats

We have identified two individuals from Glasgow in Scotland who have a deletion of one of two copies of the intergenic 9-bp sequence motif CCCCCTCTA, located between the cytochrome oxidase II (COII) and lysine tRNA (tRNA(Lys)) genes of the human mitochondrial genome. Although this polymorphism is co...

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Veröffentlicht in:	Philosophical transactions of the Royal Society of London. Series B. Biological sciences 1998-06, Vol.353 (1371), p.955-965
Hauptverfasser:	Thomas, M G, Cook, C E, Miller, K W, Waring, M J, Hagelberg, E
Format:	Artikel
Sprache:	eng
Schlagworte:	Africa Asia Base Sequence Consensus Sequence DNA Replication DNA, Mitochondrial - genetics Electron Transport Complex IV - genetics Evolution, Molecular Female Genome, Human Genomic Imprinting Humans Introns Male Molecular Sequence Data Mouth Mucosa - cytology Mouth Mucosa - metabolism Phylogeny Polymerase Chain Reaction Repetitive Sequences, Nucleic Acid RNA, Transfer, Lys - genetics Scotland Sequence Alignment Sequence Deletion Sequence Homology, Nucleic Acid
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