Epigenetic Mechanisms of Rubinstein–Taybi Syndrome
Open accessAbstract
Rubinstein-Taybi syndrome (RTS) is an incurable genetic disorder with combination of mental retardation and physical features including broad thumbs and toes, craniofacial abnormalities, and growth deficiency. While the autosomal dominant mode of transmission is limitedly known, the majority of cases are attributable to de novo mutations in RTS. The first identified gene associated with RTS is CREB-binding protein (CREBBP/CBP). Alterations of the epigenetic 'histone code' due to dysfunction of the CBP histone acetyltransferase activity deregulate gene transcriptions that are prominently linked to RTS pathogenesis. In this review, we discuss how CBP mutation contributes to modifications of histone and how histone deacetylase inhibitors are therapeutically applicable to epigenetic conditioning in RTS. Since most genetic mutations are irreversible and therapeutic approaches are limited, therapeutic targeting of reversible epigenetic components altered in RTS may be an ideal strategy. Expeditious further study on the role of the epigenetic mechanisms in RTS is encouraged to identify novel epigenetic markers and therapeutic targets to treat RTS.
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Mutations that decrease CBP activity cause Rubinstein-Taybi syndrome (RTS), which is associated with intellectual disability and learning deficits.
“Mutations that decrease CBP activity cause a human genetic disorder termed Rubinstein–Taybi syndrome (RTS)94, which is associated with intellectual disability and learning deficits”
From The right time to learn: Mechanisms and optimization of spaced learning (2016) · cites this paper as [94]
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- Authors
- Park, E., Kim, Y., Ryu, H., Kowall, N. W., Lee, J., & Ryu, H.
- Affiliations
- Boston University (US)
- Korea Institute of Science and Technology (KR)
- Corresponding author
- Ryu, Hyun
- Ryu, Hoon
- Venue
- NeuroMolecular Medicine
- Published
- 2014-01-01
- Volume
- 16
- Issue
- 1
- Pages
- 16-24
- ISSN
- 1535-1084 (ISSN-L)
- 1559-1174
- PMC
- PMC3948208
- OpenAlex
- W2054359363
- Cited by
- 63
- References
- 80
- Citations by year
- 2025: 3 · 2024: 5 · 2023: 7 · 2022: 4 · 2021: 4 · 2020: 6 · 2019: 5 · 2018: 6 · 2017: 4 · 2016: 4 · 2015: 9 · 2014: 6
- FWCI
- 4.84
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- NeuroMolecular Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Institute on Aging (P30AG013846)
- National Institute of Neurological Disorders and Stroke (R01NS067283, NS067283)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Rubinstein-Taybi syndrome, CREB-binding protein, histone acetylation, histone deacetylase inhibitors, epigenetic therapy, de novo mutations, intellectual disability, growth deficiency, craniofacial anomalies, epigenetic modifications
- MeSH terms
- Histone Methyltransferases, Acetylation, Animals, Chromatin, Disease Models, Animal, Histones, Humans, Methylation, Models, Biological, Mutation, Histone-Lysine N-Methyltransferase, Protein Processing, Post-Translational, Rubinstein-Taybi Syndrome, Tumor Suppressor Protein p53, Sequence Deletion, MicroRNAs, Epigenesis, Genetic, p300-CBP Transcription Factors, CREB-Binding Protein, Histone Acetyltransferases, Histone Deacetylase Inhibitors
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