Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Epigenetic Regulation01:46

Epigenetic Regulation

34.1K
Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
34.1K
Epigenetic Regulation01:37

Epigenetic Regulation

4.0K
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
4.0K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

37.8K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
37.8K
Histone Modification02:32

Histone Modification

16.7K
The histone proteins have a flexible N-terminal tail extending out from the nucleosome. These histone tails are often subjected to post-translational modifications such as acetylation, methylation, phosphorylation, and ubiquitination. Particular combinations of these modifications form “histone codes” that influence the chromatin folding and tissue-specific gene expression.
Acetylation
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone...
16.7K
Histone Modification02:32

Histone Modification

4.7K
4.7K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

56
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
56

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The prefrontal cortex outputs to the amygdala facilitate threat-discrimination learning.

bioRxiv : the preprint server for biology·2026
Same author

The Neuronal Hypofunction of Subdivisions of the Prefrontal Cortex Shows Differential Effects on Contingency Judgment Learning to Gauge Fear Responses.

Neuroscience insights·2024
Same author

Prefrontal multistimulus integration within a dedicated disambiguation circuit guides interleaving contingency judgment learning.

Cell reports·2024
Same author

Differential fear conditioning generates prefrontal neural ensembles of safety signals.

Behavioural brain research·2018
Same author

Long-Lasting Effects of Prenatal Ethanol Exposure on Fear Learning and Development of the Amygdala.

Frontiers in behavioral neuroscience·2018
Same author

GLT-1-Dependent Disruption of CNS Glutamate Homeostasis and Neuronal Function by the Protozoan Parasite Toxoplasma gondii.

PLoS pathogens·2016

Related Experiment Video

Updated: Mar 2, 2026

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
08:33

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Published on: March 24, 2019

8.0K

Rubinstein-Taybi Syndrome and Epigenetic Alterations.

Edward Korzus1

  • 1Department of Psychology and Neuroscience Program, University Of California Riverside, 900 University Ave, Riverside, CA, 92521, USA. edkorzus@ucr.edu.

Advances in Experimental Medicine and Biology
|May 20, 2017
PubMed
Summary

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder caused by mutations in epigenetics genes like CREBBP (CBP). Research suggests CBP

Keywords:
CBPCREBBPEP300EpigeneticHDACHistone acetylationMemoryRSTSRubinstein-Taybi syndromep300

More Related Videos

Toxicological Assays for Testing Effects of an Epigenetic Drug on Development, Fecundity and Survivorship of Malaria Mosquitoes
10:26

Toxicological Assays for Testing Effects of an Epigenetic Drug on Development, Fecundity and Survivorship of Malaria Mosquitoes

Published on: January 16, 2015

8.9K
Lentiviral Vector Platform for the Efficient Delivery of Epigenome-editing Tools into Human Induced Pluripotent Stem Cell-derived Disease Models
13:47

Lentiviral Vector Platform for the Efficient Delivery of Epigenome-editing Tools into Human Induced Pluripotent Stem Cell-derived Disease Models

Published on: March 29, 2019

10.5K

Related Experiment Videos

Last Updated: Mar 2, 2026

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
08:33

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Published on: March 24, 2019

8.0K
Toxicological Assays for Testing Effects of an Epigenetic Drug on Development, Fecundity and Survivorship of Malaria Mosquitoes
10:26

Toxicological Assays for Testing Effects of an Epigenetic Drug on Development, Fecundity and Survivorship of Malaria Mosquitoes

Published on: January 16, 2015

8.9K
Lentiviral Vector Platform for the Efficient Delivery of Epigenome-editing Tools into Human Induced Pluripotent Stem Cell-derived Disease Models
13:47

Lentiviral Vector Platform for the Efficient Delivery of Epigenome-editing Tools into Human Induced Pluripotent Stem Cell-derived Disease Models

Published on: March 29, 2019

10.5K

Area of Science:

  • Genetics
  • Epigenetics
  • Developmental Biology

Background:

  • Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by developmental delays and intellectual disability.
  • RSTS is linked to mutations in epigenetics-associated genes, primarily CREBBP (encoding CBP) and EP300 (encoding p300).
  • CBP possesses histone acetyltransferase activity crucial for gene expression and has been implicated in higher cognitive functions.

Purpose of the Study:

  • To explore the role of CBP in cognitive function within the context of Rubinstein-Taybi syndrome.
  • To investigate the epigenetic mechanisms underlying RSTS, focusing on the CBP gene.
  • To understand the etiology of RSTS, despite research on CREBBP in rodents.

Main Methods:

  • Review of existing literature on RSTS, CBP, and epigenetic mechanisms.
  • Analysis of studies on cognitive functions in mouse models involving CBP.
  • Examination of the histone acetyltransferase activity of CBP and its role in gene expression.

Main Results:

  • Heterozygous mutations in the CBP gene are associated with RSTS and suggest a role for CBP in higher cognitive functions.
  • CBP's histone acetyltransferase activity is essential for CREB-mediated gene expression, potentially by destabilizing nucleosomes.
  • The complexity of RSTS and potential genetic compensation make it challenging to directly link CBP to adult cognitive function.

Conclusions:

  • While CBP's role in gene regulation and cognitive function is supported by genetic evidence in RSTS and mouse models, its direct impact in the adult human brain remains complex.
  • The precise etiology of RSTS in humans is not fully understood, necessitating further research despite extensive studies in rodents.
  • Prenatal genetic testing for RSTS is rarely considered due to its rarity and the postnatal manifestation of many symptoms.