Contribution of spurious transcription to intellectual disability disorders
| Autor: | Marilyn Scandaglia, Angel Barco |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
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 |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| ISSN: | 1468-6244 0022-2593 |
| DOI: | 10.1136/jmedgenet-2018-105668 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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