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Related Experiment Videos

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

Jared A Drake1, Christine Bird, James Nemesh

  • 1Program in Genomics and Division of Endocrinology, Children's Hospital, Boston, Massachusetts 02115, USA.

Nature Genetics
|December 29, 2005
PubMed
Summary
This summary is machine-generated.

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Evolutionarily conserved noncoding regions (CNCs) are selectively constrained in humans, indicating functional importance. New genetic variants within CNCs are rarer, suggesting evolutionary pressure suppresses their frequency.

Area of Science:

  • Genomics
  • Evolutionary Biology
  • Human Genetics

Background:

  • Noncoding genetic variants play a role in human biology and disease.
  • Identifying functional noncoding variants remains challenging.
  • Evolutionarily conserved noncoding regions (CNCs) may harbor functional variation.

Purpose of the Study:

  • To determine if conserved noncoding regions (CNCs) are selectively constrained in humans.
  • To assess the functional significance of variants within CNCs.

Main Methods:

  • Analysis of HapMap genotype data.
  • Comparison of allele frequencies between conserved and nonconserved noncoding regions.
  • Examination of single nucleotide polymorphisms (SNPs) within CNCs.

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Main Results:

  • New alleles of SNPs within CNCs are significantly rarer than those in nonconserved regions (P = 3 x 10(-18)).
  • This rarity indicates evolutionary pressure has suppressed allele frequencies derived from CNCs.
  • Intronic CNCs and CNCs near genes exhibit greater allele frequency shifts, comparable to missense variants.

Conclusions:

  • Conserved noncoding variants are more likely to be functional.
  • Allele frequency distributions effectively highlight selectively constrained genomic regions.
  • These regions warrant intensive investigation for functionally important variation.