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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Chromatin / metabolism*
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Chromosomal Proteins, Non-Histone / metabolism*
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DNA / metabolism
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DNA Helicases / genetics
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DNA Helicases / metabolism*
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DNA, Neoplasm / metabolism
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Genetic Diseases, Inborn / genetics
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Genetic Diseases, Inborn / metabolism*
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Histones / metabolism
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Humans
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Leukemia / genetics
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Leukemia / metabolism*
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Neoplasms / genetics
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Neoplasms / metabolism*
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Nuclear Proteins / genetics
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Nuclear Proteins / metabolism*
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Transcription Factors / genetics
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Transcription Factors / metabolism*
Substances
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BAZ1B protein, human
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Chromatin
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Chromosomal Proteins, Non-Histone
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DNA, Neoplasm
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Histones
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Nuclear Proteins
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SWI-SNF-B chromatin-remodeling complex
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Transcription Factors
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DNA
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SMARCA4 protein, human
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DNA Helicases