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Updated: Oct 30, 2025
06:24
Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq
Published on: March 12, 2021
3.8K
Transcriptomic and Epigenomic Landscape in Rett Syndrome
Domenico Marano1, Salvatore Fioriniello1, Maurizio D'Esposito1
1Institute of Genetics and Biophysics 'A. Buzzati-Traverso', CNR, 80131 Naples, Italy.
Biomolecules
|July 2, 2021
Summary
Rett syndrome, a severe neurodevelopmental disorder, stems from mutations in the Methyl-CpG binding protein 2 (MECP2) gene. This review details the resulting widespread epigenetic and gene expression changes in patients and models.
Area of Science:
- Neuroscience
- Genetics
- Epigenetics
Background:
- Rett syndrome (RTT) is a severe neurodevelopmental disorder causing intellectual disability in females.
- Most RTT cases result from mutations in the Methyl-CpG binding protein 2 (MECP2) gene.
- MeCP2 is crucial for epigenetic regulation and chromatin organization.
Purpose of the Study:
- To review current knowledge on transcriptomic and epigenomic alterations in RTT.
- To highlight the impact of MECP2 defects on gene expression and epigenetic modifications.
Main Methods:
- Review of existing literature on Rett syndrome.
- Analysis of transcriptomic and epigenomic data from RTT patients and animal models.
Main Results:
- MECP2 mutations lead to extensive alterations in the epigenome.
- Unbalanced epigenetic modifications and altered gene expression (coding and non-coding) are observed.
- These changes have critical downstream biological consequences.
Conclusions:
- Defects in the multifaceted MeCP2 protein cause large-scale epigenomic dysregulation.
- Understanding these alterations is key to addressing the consequences of RTT.
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