Access

Letter

Nature Genetics 38, 223–227 (1 February 2006) | doi:10.1038/ng1710

Conserved noncoding sequences are selectively constrained and not mutation cold spots

Jared A Drake , Christine Bird , James Nemesh , Daryl J Thomas , Christopher Newton-Cheh , Alexandre Reymond , Laurent Excoffier , Homa Attar , Stylianos E Antonarakis , Emmanouil T Dermitzakis & Joel N Hirschhorn

Noncoding genetic variants are likely to influence human biology and disease, but recognizing functional noncoding variants is difficult. Approximately 3% of noncoding sequence is conserved among distantly related mammals, suggesting that these evolutionarily conserved noncoding regions (CNCs) are selectively constrained and contain functional variation.