Disease relevance of BAZ1B

• The Williams Syndrome Transcription Factor (WSTF), the product of the WBSCR9 gene, is invariably deleted in the haploinsufficiency Williams-Beuren Syndrome [1].

High impact information on BAZ1B

• Furthermore, overexpression of WSTF could restore the impaired recruitment of VDR to vitamin D regulated promoters in fibroblasts from Williams syndrome patients [2].
• Human WSTF, which is encoded by one of multiple genes that is deleted in Williams syndrome individuals, is the only currently known mammalian protein with each of the conserved motifs in Acf1 [3].
• The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci [4].
• WSTF, in turn, recruits imitation switch (ISWI)-type nucleosome-remodelling factor SNF2H to replication sites [4].
• A family of chromatin remodeling factors related to Williams syndrome transcription factor [5].

Biological context of BAZ1B

• The WSTF gene consists of 20 exons spanning about 80 kb [6].
• The WBSCR9 gene encodes a roughly 7-kb transcript with an open reading frame of 1483 amino acids and a predicted protein product size of 170.8 kDa [7].
• Haploinsufficiency for WBSCR9 gene products may contribute to the complex phenotype of WBS by interacting with tissue-specific regulatory factors during development [7].
• NM1, WSTF and SNF2h were found to be associated with RNA polymerase I (Pol I) and ribosomal RNA genes (rDNA) [8].
• Thus, our findings indicate that WINAC associates with chromatin through a physical interaction between the WSTF bromodomain and acetylated histones, that appears to be indispensable for VDR/promoter association for ligand-induced transrepression of 1alpha(OH)ase gene expression [9].

Anatomical context of BAZ1B

• WSTF is ubiquitously expressed in both adult and fetal tissues [6].

Other interactions of BAZ1B

• Here we provide evidence that the Williams syndrome transcription factor (WSTF) is targeted to replication foci through direct interaction with the DNA clamp PCNA, an important coordinator of DNA and chromatin replication [4].

Analytical, diagnostic and therapeutic context of BAZ1B

• Fluorescence in situ hybridization analysis shows that WSTF is deleted in 50/50 WS individuals [6].
• Here, we show by biochemical fractionation of nuclear extracts, protein-protein interaction studies and chromatin immunoprecipitation assays that NM1 is part of a multiprotein complex that contains WICH, a chromatin remodelling complex containing WSTF (Williams syndrome transcription factor) and SNF2h [8].

References