Dissecting MECP2 function in the central nervous system
Abstract
Rett syndrome is a neurodevelopmental disorder and an important cause of mental retardation and autistic behavior in girls and in a small group of boys. In 1999, mutation of the methyl-CpG binding protein 2 (MECP2) gene encoding a transcriptional repressor on the X chromosome was found to cause Rett syndrome. Since this discovery, significant research has focused on the elucidation of its specific role in the central nervous system. Recent studies revealed that MECP2 is expressed in more differentiated neurons rather than in less differentiated neuroblasts and that MECP2 is involved in the maturation and maintenance of neurons, including dendritic arborization and axonal projections, rather than in early cell fate decisions in the mammalian brain. In this review, we summarize recent findings regarding regional, temporal, and cell type-specific MECP2 expression in the central nervous system; neurobiologic abnormalities in MECP2 -mutant mice; and MECP2 target genes in the central nervous system.
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In the central nervous system, MeCP2 is expressed at low levels prenatally, but progressively increases during neuronal maturation and synaptogenesis, reaching its peak in mature, post-migratory neurons.
“In the central nervous system (CNS), MeCP2 is expressed at low levels prenatally, but progressively increases during neuronal maturation and synaptogenesis reaching its peak in mature, post-migratory neurons, suggesting a role for MeCP2 in maintaining neuronal maturation, activity and plasticity [54–57].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [57]
MeCP2 has a role in maintaining neuronal maturation, activity and plasticity.
“In the central nervous system (CNS), MeCP2 is expressed at low levels prenatally, but progressively increases during neuronal maturation and synaptogenesis reaching its peak in mature, post-migratory neurons, suggesting a role for MeCP2 in maintaining neuronal maturation, activity and plasticity [54–57].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [57]
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Rett syndrome: a neurological disorder with metabolic components
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- Authors
- Kishi, N., & Macklis, J. D.
- Affiliations
- Harvard University (US)
- ORCID
- Macklis, J. D.
- Venue
- Journal of Child Neurology
- Publisher
- SAGE Publications
- Published
- 2005-08-01
- Volume
- 20
- Issue
- 8
- Pages
- 753-759
- ISSN
- 0883-0738 (ISSN-L)
- OpenAlex
- W2135726526
- Cited by
- 42
- References
- 6
- Citations by year
- 2024: 2 · 2023: 4 · 2022: 1 · 2019: 3 · 2018: 3 · 2017: 3 · 2016: 3 · 2015: 2 · 2014: 3 · 2013: 4 · 2012: 1
- FWCI
- 0.90
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Child Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS045523, NS 49553, NS 41590, R01NS049553, NS45523)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD18655, P30HD018655)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- MeCP2, Rett syndrome, central nervous system, neuronal maturation, dendritic branching, axonal projections, cell type-specific gene expression, transcriptional repression, neurodevelopmental disorders
- MeSH terms
- Animals, Brain, Female, Humans, Male, Mice, Neurologic Mutants, Neurons, Repressor Proteins, Rett Syndrome, Mice
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