Journal article
Williams syndrome is an epigenome-regulator disease
Endocrine journal, Vol.58(2), pp.77-85
2011
DOI: 10.1507/endocrj.K10E-393
PMID: 21242649
Abstract
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.
Details
- Title: Subtitle
- Williams syndrome is an epigenome-regulator disease
- Creators
- Hirochika Kitagawa - Institute of Molecular and Cellular Biosciences, University of Tokyo, Tokyo, JapanRyoji Fujiki - Institute of Molecular and Cellular Biosciences, University of Tokyo, Tokyo, JapanKimihiro Yoshimura - Institute of Molecular and Cellular Biosciences, University of Tokyo, Tokyo, JapanHiroyuki Oya - Institute of Molecular and Cellular Biosciences, University of Tokyo, Tokyo, JapanShigeaki Kato - Institute of Molecular and Cellular Biosciences, University of Tokyo, Tokyo, Japan
- Resource Type
- Journal article
- Publication Details
- Endocrine journal, Vol.58(2), pp.77-85
- Publisher
- 一般社団法人 日本内分泌学会
- DOI
- 10.1507/endocrj.K10E-393
- PMID
- 21242649
- ISSN
- 0918-8959
- eISSN
- 1348-4540
- Language
- English
- Date published
- 2011
- Academic Unit
- Iowa Neuroscience Institute; Neurosurgery
- Record Identifier
- 9984040534102771
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