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

Details

Serval ID
serval:BIB_E0C9D93C0F7D
Type
Article: article from journal or magazin.
Collection
Publications
Title
Conserved noncoding sequences are selectively constrained and not mutation cold spots.
Journal
Nature Genetics
Author(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]
Publication state
Published
Issued date
2006
Peer-reviewed
Oui
Volume
38
Number
2
Pages
223-227
Language
english
Abstract
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.
Keywords
Conserved Sequence/genetics, Gene Frequency/genetics, Humans, Mutation/genetics, Polymorphism, Single Nucleotide/genetics, Population Groups/genetics, Selection, Genetic
Pubmed
Web of science
Create date
24/01/2008 16:52
Last modification date
20/08/2019 17:05
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