title: Natural radioactivity and human mitochondrial DNA mutations.
abstract: Radioactivity is known to induce tumors, chromosome lesions, and minisatellite length mutations, but its effects on the DNA sequence have not previously been studied. A coastal peninsula in Kerala (India) contains the world's highest level of natural radioactivity in a densely populated area, offering an opportunity to characterize radiation-associated DNA mutations. We sampled 248 pedigrees (988 individuals) in the high-radiation peninsula and in nearby low-radiation islands as a control population. We sequenced their mtDNA, and found that the pedigrees living in the high-radiation area have significantly (P < 0.01) increased germ-line point mutations between mothers and their offspring. In each mutation case, we confirmed maternity by autosomal profiling. Strikingly, the radioactive conditions accelerate mutations at nucleotide positions that have been evolutionary hot spots for at least 60,000 years.
authors.affiliation: Institute of Legal Medicine, University of Münster, 48129 Münster, Germany.
authors.forename: Lucy
authors.initials: L
authors.lastname: Forster
authors.forename: Peter
authors.initials: P
authors.lastname: Forster
authors.forename: Sabine
authors.initials: S
authors.lastname: Lutz-Bonengel
authors.forename: Horst
authors.initials: H
authors.lastname: Willkomm
authors.forename: Bernd
authors.initials: B
authors.lastname: Brinkmann
mesh_terms: D001483:Base Sequence; D004249:DNA Damage; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000528:radiation effects*; D004781:Environmental Exposure; D019143:Evolution, Molecular; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007194:India; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D010375:Pedigree; D011829:Radiation Dosage; D012990:Soil Pollutants, Radioactive / Q000009:adverse effects
chemical_list: D004272:DNA, Mitochondrial; D012990:Soil Pollutants, Radioactive