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cDNAs with long CAG trinucleotide repeats from human brain

R L Margolis1, M R Abraham, S B Gatchell

  • 1Laboratory of Molecular Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. rmargoli@welchlink.welch.jhu.edu

Human Genetics
|July 1, 1997
PubMed
Summary

Researchers identified novel genes associated with trinucleotide repeat expansion disorders. These candidate genes, found in human brain cDNA libraries, may play a role in neurodevelopment and neurodegenerative diseases.

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Trinucleotide repeat expansion mutations are linked to over a dozen diseases, many with neuropsychiatric symptoms.
  • These mutations can also contribute to spinocerebellar ataxia, bipolar disorder, schizophrenia, and autism.

Purpose of the Study:

  • To identify candidate genes responsible for trinucleotide repeat expansion disorders.
  • To investigate the role of these genes in neurodevelopment and neuroplasticity.

Main Methods:

  • Screening of adult and fetal human brain cDNA libraries for CAG repeat-containing clones.
  • Isolation and chromosomal mapping of 19 distinct cDNAs.

Main Results:

  • Nineteen cDNAs containing 4-17 consecutive trinucleotide repeats (CAG, CTG, TCG, or GCA) were identified and mapped.

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  • One clone (H44) encoded 40 consecutive glutamines, exceeding known databases.
  • Eight cDNAs encoded ≥15 glutamines, suggesting a role as transcription factors.

    • Conclusions:

    • The identified genes are strong candidates for diseases characterized by anticipation, neurodegeneration, or neurodevelopmental abnormalities.
    • Specific clones, like CTG3a with 18 glutamines, show homology to known gene products involved in neuronal development.