title: A novel human gene, WSTF, is deleted in Williams syndrome.
abstract: Williams syndrome (WS) is a developmental disorder caused by deletion of multiple genes at chromosome 7q11.23. Here, we report the identification and characterization of a novel gene, WSTF, that maps to the common WS deletion region. WSTF encodes a novel protein of 1425 amino acids with unknown function. It contains one PHD-type zinc finger motif followed by a bromodomain. Both motifs are found in many transcription regulators, suggesting that WSTF may function as a transcription factor. WSTF is ubiquitously expressed in both adult and fetal tissues. The WSTF gene consists of 20 exons spanning about 80 kb. Fluorescence in situ hybridization analysis shows that WSTF is deleted in 50/50 WS individuals. Hemizygous deletion of WSTF may contribute to WS.
authors.affiliation: Department of Human Genetics, University of Utah, Salt Lake City, Utah, 84112, USA.
authors.forename: X
authors.initials: X
authors.lastname: Lu
authors.forename: X
authors.initials: X
authors.lastname: Meng
authors.forename: C A
authors.initials: CA
authors.lastname: Morris
authors.forename: M T
authors.initials: MT
authors.lastname: Keating
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003001:Cloning, Molecular; D017931:DNA Primers / Q000235:genetics; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D018980:Williams Syndrome / Q000235:genetics*
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger