
Huntingtin is a protein that is mutated in Huntington's disease (HD), a dominant inherited neurodegenerative disorder. We previously proposed that, in addition to the gained toxic activity of the mutant protein, selective molecular dysfunctions in HD may represent the consequences of the loss of wild-type protein activity. We first reported that wild-type huntingtin positively affects the transcription of the brain-derived neurotrophic factor (BDNF) gene, a cortically derived survival factor for the striatal neurons that are mainly affected in the disease. Mutation in huntingtin decreases BDNF gene transcription. One mechanism involves the activation of repressor element 1/neuron-restrictive silencer element (RE1/NRSE) located within the BDNF promoter. We now show that increased binding of the RE1 silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) repressor occurs at multiple genomic RE1/NRSE loci in HD cells, in animal models, and in postmortem brains, resulting in a decrease of RE1/NRSE-mediated gene transcription. The same molecular phenotype is produced in cells and brain tissue depleted of endogenous huntingtin, thereby directly validating the loss-of-function hypothesis of HD. Through a ChIP (chromatin immunoprecipitation)-on-chip approach, we examined occupancy of multiple REST/NRSF target genes in the postmortem HD brain, providing the first example of the application of this technology to neurodegenerative diseases. Finally, we show that attenuation of REST/NRSF binding restores BDNF levels, suggesting that relief of REST/NRSF mediated repression can restore aberrant neuronal gene transcription in HD.
570, 572, 1, 610, Down-Regulation, BDNF; Genome; Huntington's disease; Neuronal death; REST/NRSF; Transcription, Mice, Transgenic, Nerve Tissue Proteins, Social and Behavioral Sciences, target, Mice, widespread, Physical Sciences and Mathematics, Animals, Humans, Immunoprecipitation, restrictive, Genetic Predisposition to Disease, huntington, its, genes, occupancy, Cell Line, Transformed, Brain Chemistry, Mice, Knockout, Neurons, disease, repressor, Huntingtin Protein, Brain-Derived Neurotrophic Factor, element, Life Sciences, Nuclear Proteins, neuron, silencer, disruption, Corpus Striatum, Repressor Proteins, Huntington Disease, factor, Gene Expression Regulation, silencing, transcription, Protein Binding
570, 572, 1, 610, Down-Regulation, BDNF; Genome; Huntington's disease; Neuronal death; REST/NRSF; Transcription, Mice, Transgenic, Nerve Tissue Proteins, Social and Behavioral Sciences, target, Mice, widespread, Physical Sciences and Mathematics, Animals, Humans, Immunoprecipitation, restrictive, Genetic Predisposition to Disease, huntington, its, genes, occupancy, Cell Line, Transformed, Brain Chemistry, Mice, Knockout, Neurons, disease, repressor, Huntingtin Protein, Brain-Derived Neurotrophic Factor, element, Life Sciences, Nuclear Proteins, neuron, silencer, disruption, Corpus Striatum, Repressor Proteins, Huntington Disease, factor, Gene Expression Regulation, silencing, transcription, Protein Binding
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