Document Detail


Williams syndrome is an epigenome-regulator disease.
MedLine Citation:
PMID:  21242649     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
A human multi-protein complex (WINAC), composed of SWI/SNF components and DNA replication-related factors, that directly interacts with the vitamin D receptor (VDR) through the Williams syndrome transcription factor (WSTF), was identified with an ATP-dependent chromatin remodeling activity. This novel ATP-dependent chromatin remodeling complex facilitates VDR-mediated transrepression as well as transactivation with its ATP-dependent chromatin remodeling activity and promoter targeting property for the activator to access to the DNA. It also suggested that in this complex, WSTF serves as a signaling sensor to receive intra-cellular singalings to switch the activity of WINAC as well as WICH, another ATP-dependent chromatin remodeling complex containing hSNF2h. By making WSTF-deficient mice, some of the heart defects as well as abnormal calcium metabolism observed in Williams syndrome are attributed to the abnormal chromatin remodeling activity caused by WSTF deficiency. Thus, we would propose to designate Williams syndrome as an epigenome-regulator disease.
Authors:
Hirochika Kitagawa; Ryoji Fujiki; Kimihiro Yoshimura; Hiroyuki Oya; Shigeaki Kato
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-1-14
Journal Detail:
Title:  Endocrine journal     Volume:  -     ISSN:  1348-4540     ISO Abbreviation:  -     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-1-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9313485     Medline TA:  Endocr J     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Institute of Molecular and Cellular Biosciences, University of Tokyo, Tokyo, Japan.
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