Chromatin remodeling and SWI/SNF2 factors in human disease.
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.
Pathologic Physiology and Center for Experimental Hematology, Charles University in Prague, First Faculty of Medicine, U nemocnice 5, Prague 12853, Czech Republic.
Juraj
J
Kokavec
Jarmila
J
Podskocova
Jiri
J
Zavadil
Tomas
T
Stopka
D002843:Chromatin / Q000378:metabolism*; D002868:Chromosomal Proteins, Non-Histone / Q000378:metabolism*; D004247:DNA / Q000378:metabolism; D004265:DNA Helicases / Q000235:genetics / Q000378:metabolism*; D004273:DNA, Neoplasm / Q000378:metabolism; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000378:metabolism*; D006657:Histones / Q000378:metabolism; D006801:Humans; D007938:Leukemia / Q000235:genetics / Q000378:metabolism*; D009369:Neoplasms / Q000235:genetics / Q000378:metabolism*; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism*; D000092468:Bromodomain Containing Proteins
D002843:Chromatin; D002868:Chromosomal Proteins, Non-Histone; D004247:DNA; D004265:DNA Helicases; D004273:DNA, Neoplasm; D006657:Histones; D009687:Nuclear Proteins; D014157:Transcription Factors; C116750:BAZ1B protein, human; D000092468:Bromodomain Containing Proteins; C445179:SWI-SNF-B chromatin-remodeling complex; C084108:SMARCA4 protein, human