title: Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23.
abstract: We have identified a novel gene (WBSCR9) within the common Williams-Beuren syndrome (WBS) deletion by interspecies sequence conservation. 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. WBSCR9 is comprised of at least 20 exons extending over 60 kb. The transcript is expressed ubiquitously throughout development and is subject to alternative splicing. Functional motifs identified by sequence homology searches include a bromodomain; a PHD, or C4HC3, finger; several putative nuclear localization signals; four nuclear receptor binding motifs; a polyglutamate stretch and two PEST sequences. Bromodomains, PHD motifs and nuclear receptor binding motifs are cardinal features of proteins that are involved in chromatin remodeling and modulation of transcription. Haploinsufficiency for WBSCR9 gene products may contribute to the complex phenotype of WBS by interacting with tissue-specific regulatory factors during development.
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California 94305-5323 (USA).
authors.forename: R J
authors.initials: RJ
authors.lastname: Peoples
authors.forename: M J
authors.initials: MJ
authors.lastname: Cisco
authors.forename: P
authors.initials: P
authors.lastname: Kaplan
authors.forename: U
authors.initials: U
authors.lastname: Francke
mesh_terms: D000818:Animals; D001483:Base Sequence; D016466:CHO Cells; D002503:Centromere / Q000235:genetics; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002897:Chromosomes, Human, Pair 7; D006224:Cricetinae; D005091:Exons; D017353:Gene Deletion; D018628:Gene Dosage; D015870:Gene Expression; D006801:Humans; D007438:Introns; D051379:Mice; D008969:Molecular Sequence Data; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors / Q000235:genetics*; D014158:Transcription, Genetic / Q000235:genetics; D018980:Williams Syndrome / Q000235:genetics*; D000092468:Bromodomain Containing Proteins
chemical_list: D014157:Transcription Factors; C116750:BAZ1B protein, human; D000092468:Bromodomain Containing Proteins; C485505:Baz1b protein, mouse