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

Master Transcription Regulators02:23

Master Transcription Regulators

Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
Spreading of Chromatin Modifications02:25

Spreading of Chromatin Modifications

The histone proteins in the nucleosomes are post-translationally modified (PTM) to increase or decrease access to DNA. The commonly observed PTMs are methylation, acetylation, phosphorylation, and ubiquitination of lysine amino acids in the histone H3 tail region. These histone modifications have specific meaning for the cell. Hence, they are called "histone code". The protein complex involved in histone modification is termed as "reader-writer" complex.
Writers
The writer is an enzyme that can...
Heterochromatin02:38

Heterochromatin

The extent of chromatin compaction can be studied by staining chromatin using specific DNA binding dyes. Under the microscope, the dense-compacted regions that take up more dye are called heterochromatin. Heterochromatin is further classified into two forms – constitutive heterochromatin and facultative heterochromatin.
Constitutive heterochromatin: It is a highly compact region of chromatin that is mostly concentrated in the centromere and telomere. Unlike euchromatin, the amino acid at 9th...
Position-effect Variegation02:32

Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
Epigenetic Regulation01:37

Epigenetic Regulation

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...
Epigenetic Regulation01:46

Epigenetic Regulation

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

You might also read

Related Articles

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

Sort by
Same author

800 million years of co-evolution in the green plant lineage - the case of LEUNIG and SEUSS transcriptional co-regulators.

Molecular biology and evolution·2026
Same author

Spatial organization and dynamics of genome replication: from forks to foci.

Nucleic acids research·2026
Same author

Physical activity and diabetes in german primary care: a qualitative interview study with individuals living with diabetes.

BMC primary care·2026
Same author

GP perspectives on a computer-assisted strategy to support PPI deprescribing: a qualitative study.

Scientific reports·2026
Same author

Mechanisms of gene regulation by SRCAP and H2A.Z.

Nature communications·2026
Same author

Gene and genome duplications have contrasting impacts on biosynthetic and flower developmental pathways in California poppy.

The Plant cell·2026
Same journal

Circulating MYOM3 fragments reflect disease severity and therapeutic efficacy in tubular aggregate myopathy and Stormorken syndrome.

Human molecular genetics·2026
Same journal

The FVB-nmd SMARD1 mouse presents with early respiratory deficits and pathology that significantly impact lifespan.

Human molecular genetics·2026
Same journal

Utrophin requires α-Syntrophin to maintain neuromuscular junction integrity in mdx mice.

Human molecular genetics·2026
Same journal

A novel gene ACTRT3 mutations induce sperm malformations and fertilization failure via Acrosomal ultrastructural defects.

Human molecular genetics·2026
Same journal

Nucleic acid-based therapeutic strategies for modulator-refractory cystic fibrosis-causing variants.

Human molecular genetics·2026
Same journal

Evidence that disruption of Discoidin domain receptor 2 contributes to palate malformations through effects on the extracellular matrix.

Human molecular genetics·2026
See all related articles

Related Experiment Video

Updated: May 30, 2026

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
08:27

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome

Published on: May 22, 2019

MeCP2 Rett mutations affect large scale chromatin organization.

Noopur Agarwal1, Annette Becker, K Laurence Jost

  • 1Max Delbrück Center for Molecular Medicine, Berlin 13125, Germany.

Human Molecular Genetics
|August 12, 2011
PubMed
Summary
This summary is machine-generated.

Mutations in the MECP2 gene cause Rett syndrome, affecting how the MeCP2 protein binds and organizes chromatin. This study reveals how MeCP2 mutations impact its interaction with heterochromatin, offering insights into Rett syndrome pathogenesis.

More Related Videos

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
07:44

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants

Published on: May 22, 2020

Pooled shRNA Screen for Reactivation of MeCP2 on the Inactive X Chromosome
11:15

Pooled shRNA Screen for Reactivation of MeCP2 on the Inactive X Chromosome

Published on: March 2, 2018

Related Experiment Videos

Last Updated: May 30, 2026

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
08:27

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome

Published on: May 22, 2019

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
07:44

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants

Published on: May 22, 2020

Pooled shRNA Screen for Reactivation of MeCP2 on the Inactive X Chromosome
11:15

Pooled shRNA Screen for Reactivation of MeCP2 on the Inactive X Chromosome

Published on: March 2, 2018

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Rett syndrome is a neurological disorder linked to the MECP2 gene.
  • MeCP2 protein is implicated in transcriptional regulation and chromatin structure.
  • Mild gene expression changes in MeCP2 mutants suggest chromatin organization defects.

Purpose of the Study:

  • To investigate if Rett syndrome mutations in MECP2 affect MeCP2 protein's chromatin binding and organization.
  • To understand the functional consequences of MeCP2 mutations on heterochromatin interactions.

Main Methods:

  • Analysis of 21 missense MECP2 mutants for heterochromatin accumulation and clustering.
  • Measurement of MeCP2 mutant residence time on heterochromatin.
  • Structural analysis of MeCP2 mutants, focusing on proline substitutions.

Main Results:

  • Most MECP2 mutants accumulated at heterochromatin, with about half showing significant defects.
  • Two-thirds of mutants displayed reduced heterochromatin clustering ability.
  • Specific proline mutants (P101H, P101R, P152R) were severely impaired in clustering.
  • Mutants with impaired heterochromatin accumulation had shorter residence times.

Conclusions:

  • Rett syndrome-associated MECP2 mutations disrupt MeCP2's ability to bind and organize chromatin, particularly heterochromatin.
  • Dysfunctional interactions with DNA, methyl cytosines, and heterochromatin proteins contribute to Rett syndrome.
  • Understanding these molecular mechanisms is crucial for developing therapeutic strategies for Rett syndrome.