Natural radioactivity and human mitochondrial DNA mutations
AUTOR(ES)
Forster, Lucy
FONTE
The National Academy of Sciences
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=129803Documentos Relacionados
- EVIDENCE THAT NATURAL RADIOACTIVITY IS INADEQUATE TO EXPLAIN THE FREQUENCY OF “NATURAL” MUTATIONS
- Length Mutations in Human Mitochondrial DNA
- Mitochondrial DNA mutations and pathogenicity.
- Mitochondrial DNA mutations in human colonic crypt stem cells
- SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.
