title: The expanding role for chromatin and transcription in polyglutamine disease.
abstract: Nine genetic diseases arise from expansion of CAG repeats in seemingly unrelated genes. They are referred to as polyglutamine (polyQ) diseases due to the presence of elongated glutamine tracts in the corresponding proteins. The pathologic consequences of polyQ expansion include progressive spinal, cerebellar, and neural degeneration. These pathologies are not identical, however, suggesting that disruption of protein-specific functions is crucial to establish and maintain each disease. A closer examination of protein function reveals that several act as regulators of gene expression. Here we examine the roles these proteins play in regulating gene expression, discuss how polyQ expansion may disrupt these functions to cause disease, and speculate on the neural specificity of perturbing ubiquitous gene regulators.
authors.affiliation: Stowers Institute for Medical Research, 1000 E 50th St., Kansas City, MO 64110, USA.
authors.forename: Ryan D
authors.initials: RD
authors.lastname: Mohan
authors.affiliation: Stowers Institute for Medical Research, 1000 E 50th St., Kansas City, MO 64110, USA. Electronic address: sma@stowers.org.
authors.forename: Susan M
authors.initials: SM
authors.lastname: Abmayr
authors.affiliation: Stowers Institute for Medical Research, 1000 E 50th St., Kansas City, MO 64110, USA. Electronic address: jlw@stowers.org.
authors.forename: Jerry L
authors.initials: JL
authors.lastname: Workman
mesh_terms: D002843:Chromatin / Q000235:genetics* / Q000378:metabolism; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000378:metabolism; D010455:Peptides / Q000235:genetics / Q000378:metabolism; D011485:Protein Binding; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D002843:Chromatin; D010455:Peptides; C097188:polyglutamine
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