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Widely distributed noncoding purifying selection in the human genome.

Saurabh Asthana1, William S Noble, Gregory Kryukov

  • 1Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA.

Proceedings of the National Academy of Sciences of the United States of America
|July 21, 2007
PubMed
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Most human noncoding DNA, not just conserved sequences, contains functional genetic variants. This suggests many important genetic variations affecting traits are currently overlooked in genome analysis.

Area of Science:

  • Genomics
  • Evolutionary Biology
  • Human Genetics

Background:

  • Human noncoding sequences are thought to harbor functional variants affecting gene regulation.
  • Evolutionarily conserved noncoding sequences (CNSs) are primary targets for identifying functional elements and disease alleles.
  • A key question is whether functional noncoding variation is concentrated in CNSs or widespread.

Purpose of the Study:

  • To investigate the distribution of functional genetic variation within the human noncoding genome.
  • To determine if selection pressures are confined to conserved regions or extend beyond them.

Main Methods:

  • Comparative genomics using whole genome data from humans, chimpanzees, dogs, mice, and rats.
  • Analysis of human polymorphism data at single-nucleotide resolution.

Related Experiment Videos

  • Assessment of purifying selection across noncoding regions.

    • Main Results:

    • A significant portion of purifying selection in human noncoding DNA occurs outside of evolutionarily conserved noncoding sequences (CNSs).
    • Functional noncoding variation is diffusely distributed across the genome, not solely concentrated in CNSs.
    • Current genome analysis methods may miss a large number of functional noncoding variants.

    Conclusions:

    • The human noncoding genome contains a substantial reservoir of functional variants beyond CNSs.
    • These findings imply a broader landscape of genetic variation impacting gene expression and phenotypic traits.
    • Future research should consider non-conserved noncoding regions for a comprehensive understanding of human genetic variation.