Williams syndrome is an epigenome-regulator disease

Endocrine Journal

Hirochika Kitagawa¹  Ryoji Fujiki¹  Shigeaki Kato¹  Hiroyuki Oya¹  Kimihiro Yoshimura¹ 

[1] Institute of Molecular and Cellular Biosciences, University of Tokyo, Tokyo, Japan

关键词: WSTF;    VDR;    Williams syndrome;    Chromatin remodeling;    Epigenome-regulator;   

DOI  :  10.1507/endocrj.K10E-393

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(44)Cited-By(4)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.

【 授权许可】

Unknown