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Contribution of spurious transcription to intellectual disability disorders
- Source :
- Digital.CSIC. Repositorio Institucional del CSIC, instname
- Publication Year :
- 2019
- Publisher :
- BMJ, 2019.
-
Abstract
- During the development of multicellular organisms, chromatin-modifying enzymes orchestrate the establishment of gene expression programmes that characterise each differentiated cell type. These enzymes also contribute to the maintenance of cell type-specific transcription profiles throughout life. But what happens when epigenomic regulation goes awry? Genomic screens in experimental models of intellectual disability disorders (IDDs) caused by mutations in epigenetic machinery-encoding genes have shown that transcriptional dysregulation constitutes a hallmark of these conditions. Here, we underscore the connections between a subset of chromatin-linked IDDs and spurious transcription in brain cells. We also propose that aberrant gene expression in neurons, including both the ectopic transcription of non-neuronal genes and the activation of cryptic promoters, may importantly contribute to the pathoaetiology of these disorders.
- Subjects :
- 0301 basic medicine
Transcription, Genetic
Cellular differentiation
Biology
Methylation
Genomic Instability
Ectopic Gene Expression
Epigenesis, Genetic
Histones
03 medical and health sciences
0302 clinical medicine
Intellectual Disability
Genetics
Humans
Gene silencing
Genetic Predisposition to Disease
Epigenetics
Gene
Genetic Association Studies
Genetics (clinical)
Epigenomics
Neurons
Promoter
DNA Methylation
Chromatin Assembly and Disassembly
Chromatin
030104 developmental biology
Mutation
DNA methylation
Ectopic expression
Neuroscience
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 14686244 and 00222593
- Volume :
- 56
- Database :
- OpenAIRE
- Journal :
- Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....6df3ff9fd66f017f920376110ca480e0