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CAG-encoded polyglutamine length polymorphism in the human genome.

Stefanie L Butland1, Rebecca S Devon, Yong Huang

  • 1UBC Bioinformatics Centre, Michael Smith Laboratories, University of British Columbia, Vancouver, Canada. butland@bioinformatics.ubc.ca <butland@bioinformatics.ubc.ca>

BMC Genomics
|May 24, 2007
PubMed
Summary

This study characterizes normal CAG-polyglutamine repeat lengths in the human genome. These findings establish a baseline for identifying pathogenic repeat expansions in neurodegenerative disorders like spinocerebellar ataxia.

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Area of Science:

  • Genetics
  • Neuroscience

Background:

  • Polyglutamine-encoding CAG trinucleotide repeat expansions cause neurodegenerative disorders.
  • Most spinocerebellar ataxia cases lack known gene mutations, suggesting other genes use this mechanism.

Purpose of the Study:

  • Determine normal CAG-polyglutamine tract length distributions across the human genome.
  • Establish a baseline for detecting pathogenic repeat expansions.
  • Prioritize candidate genes for repeat expansion disorders.

Main Methods:

  • Fragment analysis of PCR-amplified repeat regions.
  • Analysis of CAG-tract length distributions in healthy individuals.
  • Gene Ontology analysis of CAG-polyglutamine-containing genes.

Main Results:

  • Each repeat has a unique length distribution; generalizations are not advised.
  • Long, uninterrupted CAG-tracts and high population variance predict disease genes.
  • Eight priority candidate genes identified; twelve invariant repeats excluded.
  • Known and candidate disease genes are involved in transcriptional regulation and neurogenesis.

Conclusions:

  • Normal CAG-polyglutamine repeat distributions are now publicly available.
  • These distributions aid in identifying novel mutations for spinocerebellar ataxia and Huntington disease-like disorders.