Conserved noncoding sequences are selectively constrained and not mutation cold spots.

Détails

ID Serval
serval:BIB_E0C9D93C0F7D
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Conserved noncoding sequences are selectively constrained and not mutation cold spots.
Périodique
Nature Genetics
Auteur⸱e⸱s
Drake J.A., Bird C., Nemesh J., Thomas D.J., Newton-Cheh C., Reymond A., Excoffier L., Attar H., Antonarakis S.E., Dermitzakis E.T., Hirschhorn J.N.
ISSN
1061-4036[print], 1061-4036[linking]
Statut éditorial
Publié
Date de publication
2006
Peer-reviewed
Oui
Volume
38
Numéro
2
Pages
223-227
Langue
anglais
Résumé
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. However, CNCs could also merely represent regions with lower local mutation rates. Here we address this issue and show that CNCs are selectively constrained in humans by analyzing HapMap genotype data. Specifically, new (derived) alleles of SNPs within CNCs are rarer than new alleles in nonconserved regions (P = 3 x 10(-18)), indicating that evolutionary pressure has suppressed CNC-derived allele frequencies. Intronic CNCs and CNCs near genes show greater allele frequency shifts, with magnitudes comparable to those for missense variants. Thus, conserved noncoding variants are more likely to be functional. Allele frequency distributions highlight selectively constrained genomic regions that should be intensively surveyed for functionally important variation.
Mots-clé
Conserved Sequence/genetics, Gene Frequency/genetics, Humans, Mutation/genetics, Polymorphism, Single Nucleotide/genetics, Population Groups/genetics, Selection, Genetic
Pubmed
Web of science
Création de la notice
24/01/2008 15:52
Dernière modification de la notice
20/08/2019 16:05
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