1: Cell. 2003 Jun 27;113(7):905-17.

The Chromatin-Remodeling Complex WINAC Targets a Nuclear Receptor to Promoters and Is Impaired in Williams Syndrome. LKitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S.

Institute of Molecular and Cellular Biosciences, University of Tokyo, 1-1-1 Yayoi, Bunkyo-ku, 113-0032, Tokyo, Japan.

We identified a human multiprotein complex (WINAC) that directly interacts with the vitamin D receptor (VDR) through the Williams syndrome transcription factor (WSTF). WINAC has ATP-dependent chromatin-remodeling activity and contains both SWI/SNF components and DNA replication-related factors. The latter might explain a WINAC requirement for normal S phase progression. WINAC mediates the recruitment of unliganded VDR to VDR target sites in promoters, while subsequent binding of coregulators requires ligand binding. This recruitment order exemplifies that an interaction of a sequence-specific regulator with a chromatin-remodeling complex can organize nucleosomal arrays at specific local sites in order to make promoters accessible for coregulators. Furthermore, overexpression of WSTF could restore the impaired recruitment of VDR to vitamin D regulated promoters in fibroblasts from Williams syndrome patients. This suggests that WINAC dysfunction contributes to Williams syndrome, which could therefore be considered, at least in part, a chromatin-remodeling factor disease.

PMID: 12837248 [PubMed – in process]

2: J Thorac Cardiovasc Surg. 2003 Jun;125(6):1556-8.

Complete augmentation of diffuse narrowing of the aorta with Williams syndrome by using an overturn approach.

Yamagishi M, Shuntoh K, Matsushita T, Fujiwara K, Shinkawa T, Miyazaki T, Kitamura N.

Department of Pediatric Cardiovascular Surgery, Children’s Research Hospital, Kyoto Prefectural University of Medicine, Kyoto, Japan.

PMID: 12830088 [PubMed – in process]

3: Am J Med Genet. 2003 Jun 15;119A(3):302-4.

Vocal cord abnormalities in Williams syndrome: A further manifestation of elastin deficiency.

Vaux KK, Wojtczak H, Benirschke K, Jones KL.

Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California.

Williams syndrome (WS) is due to a deletion in the WS critical region at 7q11.23 which includes the elastin gene (ELN). One of the most characteristic features of this disorder is a harsh, brassy, or hoarse voice but the etiology of the vocal characteristics are unknown. We report two patients with WS who had bilateral vocal cord abnormalities, bringing to four the number of children with WS in whom such defects have been documented. We suggest that vocal cord abnormalities may be a far more common feature of WS than has been previously suspected, and that mild vocal cord dysfunction caused by abnormal vocal cord elastin may be the cause of the hoarse voice in this condition. Copyright 2003 Wiley-Liss, Inc.

PMID: 12784297 [PubMed – in process]