title: Identification of additional transcripts in the Williams-Beuren syndrome critical region.
abstract: Williams-Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple genes at 7q11.23. Here, we report the characterization of WBSCR16, WBSCR17, WBSCR18, WBSCR20A, WBSCR20B, WBSCR20C, WBSCR21, WBSCR22, and WBSCR23, nine novel genes contained in the WBS commonly deleted region or its flanking sequences. They encode an RCC1-like G-exchanging factor, an N-acetylgalactosaminyltransferase, a DNAJ-like chaperone, NOL1/NOP2/sun domain-containing proteins, a methyltransferase, or proteins with no known homologies. Haploinsufficiency of these newly identified WBSCR genes may contribute to certain of the WBS phenotypical features.
authors.affiliation: Division of Medical Genetics, University of Geneva Medical School, CMU, 1 Rue Michel Servet, 1211 Geneva 4, Switzerland.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Merla
authors.forename: Catherine
authors.initials: C
authors.lastname: Ucla
authors.forename: Michel
authors.initials: M
authors.lastname: Guipponi
authors.forename: Alexandre
authors.initials: A
authors.lastname: Reymond
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D001483:Base Sequence; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D020869:Gene Expression Profiling; D023061:Gene Order; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D009928:Organ Specificity; D020161:Physical Chromosome Mapping; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014158:Transcription, Genetic / Q000235:genetics*; D018980:Williams Syndrome / Q000235:genetics*
chemical_list: D012333:RNA, Messenger