Related Experiment Video
Updated: Jul 25, 2026
08:44
Generation and Purification of Human INO80 Chromatin Remodeling Complexes and Subcomplexes
Published on: October 23, 2014
Syndromes of disordered chromatin remodeling
J Ausió1, D B Levin, G V De Amorim
1Department of Biochemistry and Microbiology, University of Victoria, Victoria, British Columbia, Canada. jausio@uvic.ca
Clinical Genetics
|July 16, 2003
Summary
Disordered chromatin remodeling, caused by gene mutations affecting DNA transcription, leads to unique genetic diseases. This review covers examples like ATR-X, Rett syndrome, and others stemming from disrupted chromatin structure.
Area of Science:
- Molecular Biology
- Genetics
- Epigenetics
Background:
- Chromatin remodeling involves DNA packaging into nucleosomes around histone proteins.
- Histone modifications regulate DNA-histone interactions and gene transcription.
- Mutations in chromatin-modifying enzymes disrupt gene regulation, causing disease.
Purpose of the Study:
- To review genetic diseases resulting from disordered chromatin remodeling.
- To highlight the link between chromatin structure, gene transcription, and disease.
Main Methods:
- Review of existing literature on chromatin remodeling and associated genetic syndromes.
- Identification and description of key genetic disorders linked to chromatin structure defects.
Main Results:
- Disordered chromatin remodeling deregulates gene transcription, leading to various syndromes.
- Examples include alpha-thalassemia/mental retardation syndrome (ATR-X), Rett syndrome (RS), ICF syndrome, Rubinstein-Taybi syndrome (RSTS), and Coffin-Lowry syndrome (CLS).
Conclusions:
- Chromatin remodeling is crucial for proper gene regulation.
- Defects in this process underlie a spectrum of human genetic disorders.
Related Concept Videos
02:54Nucleosome Remodeling
Nucleosomes are the basic units of chromatin compaction. Each nucleosome consists of the DNA bound tightly around a histone core, which makes the DNA inaccessible to DNA binding proteins such as DNA polymerase and RNA polymerase. Hence, the fundamental problem is to ensure access to DNA when appropriate, despite the compact and protective chromatin structure.
Nucleosome remodeling complex
Eukaryotic cells have specialized enzymes called ATP-dependent nucleosome remodeling enzymes. These enzymes...
Nucleosome remodeling complex
Eukaryotic cells have specialized enzymes called ATP-dependent nucleosome remodeling enzymes. These enzymes...
02:25Spreading 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...
Writers
The writer is an enzyme that can...
03:17Inheritance of Chromatin Structures
Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...
02:05Duplication of Chromatin Structure
The process of chromosome duplication during cell division requires genome-wide disruption and re-assembly of chromatin. The chromatin structure must be accurately inherited, reassembled, and maintained in the daughter cells to ensure lineage propagation.
The basic unit of the chromatin is the nucleosome, consisting of DNA wrapped around octameric histone proteins and short stretches of linker DNA separating individual nucleosomes. The histone proteins within the nucleosome have their...
The basic unit of the chromatin is the nucleosome, consisting of DNA wrapped around octameric histone proteins and short stretches of linker DNA separating individual nucleosomes. The histone proteins within the nucleosome have their...
02:20Cohesins
Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of homologous...
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of homologous...
01:32Chromatin Modification in iPS Cells
Chromatin modification alters gene expression; therefore, scientists can add histone-modifying enzymes, histone variants, and chromatin remodeling complexes to somatic cells to aid reprogramming into pluripotent stem (iPS) cells.
Compact chromatin makes reprogramming difficult. Enzymes, such as histone demethylases and acetyltransferases, are often added during reprogramming to loosen the chromatin, making the DNA more accessible to transcription factors. Molecules that inhibit histone...
Compact chromatin makes reprogramming difficult. Enzymes, such as histone demethylases and acetyltransferases, are often added during reprogramming to loosen the chromatin, making the DNA more accessible to transcription factors. Molecules that inhibit histone...