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Updated: Jul 4, 2026

Generation and Purification of Human INO80 Chromatin Remodeling Complexes and Subcomplexes
Published on: October 23, 2014
Chromatin remodeling and SWI/SNF2 factors in human disease
Juraj Kokavec1, Jarmila Podskocova, Jiri Zavadil
1Pathologic Physiology and Center for Experimental Hematology, Charles University in Prague, First Faculty of Medicine, U nemocnice 5, Prague 12853, Czech Republic.
Abstract:
Chromatin structure and its changes or maintenance throughout developmental checkpoints play indispensable role in organismal homeostasis. Chromatin remodeling factors of the SWI/SNF2 superfamily use ATP hydrolysis to change DNA-protein contacts, and their loss-of-function or inappropriate increase leads to distinct human pathologic states. In this review, we focus on the translational view of human pathologic physiology involving SWI/SNF2 superfamily, combining latest finding from basic and clinical research. We discuss in mechanistic terms the consequences resulting from dose alteration of the SWI/SNF2 superfamily ATPases and emphasize the necessity of future human subject-based studies.
Insights
Altering SWI/SNF2 chromatin remodelers disrupts organismal balance, causing human diseases. Understanding these ATPases
Area of Science:
- Molecular biology
- Genetics
- Human pathology
Background:
- Chromatin structure is crucial for development and homeostasis.
- SWI/SNF2 superfamily remodelers use ATP hydrolysis to alter DNA-protein interactions.
- Dysregulation of these factors causes human diseases.
Purpose of the Study:
- To provide a translational overview of human pathologic physiology related to the SWI/SNF2 superfamily.
- To integrate recent basic and clinical research findings.
- To elucidate the mechanistic consequences of SWI/SNF2 ATPase dose alterations.
Main Methods:
- Review of existing literature.
- Synthesis of basic science findings.
- Analysis of clinical research data.
Main Results:
- Loss-of-function or increased activity of SWI/SNF2 factors leads to distinct human pathologies.
- Mechanistic insights into the consequences of altered SWI/SNF2 ATPase levels are discussed.
Conclusions:
- The SWI/SNF2 superfamily plays a critical role in maintaining cellular and organismal health.
- Altered dosage of these chromatin remodelers has significant implications for human disease.
- Further human subject-based studies are essential for a comprehensive understanding.
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