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Related Experiment Videos

Human genome ultraconserved elements are ultraselected.

Sol Katzman1, Andrew D Kern, Gill Bejerano

  • 1Department of Biomolecular Engineering, University of California, Santa Cruz, CA 95064, USA.

Science (New York, N.Y.)
|August 19, 2007
PubMed
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Ultraconserved elements in the human genome are highly conserved DNA sequences. These regions experience stronger negative selection than protein-coding genes, challenging previous hypotheses.

Area of Science:

  • Genomics
  • Evolutionary Biology
  • Bioinformatics

Background:

  • Ultraconserved elements (UCEs) are DNA sequences (>200 bp) identical in human, mouse, and rat genomes.
  • Most UCEs are noncoding and conserved across mammals and birds for over 300 million years.
  • The evolutionary drivers of UCE conservation are poorly understood.

Purpose of the Study:

  • To investigate the selective pressures acting on ultraconserved elements.
  • To determine if UCEs are mutational cold spots or under negative selection.
  • To compare selection intensity on UCEs with protein-coding genes.

Main Methods:

  • Analysis of the derived allele frequency spectrum in UCEs.
  • Comparative genomics to identify conserved regions.

Related Experiment Videos

  • Bioinformatic analysis of sequence data.

    • Main Results:

    • Ultraconserved elements are not mutational cold spots.
    • UCEs are under significant negative evolutionary selection.
    • Negative selection on UCEs is stronger than on protein-coding genes.

    Conclusions:

    • The extreme conservation of UCEs is driven by strong negative selection.
    • This finding refutes the mutational cold spot hypothesis.
    • UCEs represent critical regulatory or functional regions under intense evolutionary constraint.