title: Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein.
abstract: Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2-22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pathogenesis of CHD in DS. In an effort to contribute to the construction of a transcriptional map of the DS CHD region we have performed direct cDNA selection using a YAC contig that maps between ETS2 and D21S15 and cDNAs synthesised from fetal heart structures. Here we describe the identification and characterization of a new gene, WRB, that maps to 21q22.3 between ACTL5 and HMG 14 and appears to be widely expressed in adult and fetal tissues. The new gene encodes a basic protein of unknown function containing a tryptophan-rich carboxyl-terminal region and a potential nuclear localization signal. Immunofluorescence analysis shows a predominant localization in the cell nucleus. The understanding of the biological function of the protein product should clarify the potential role of WRB in the pathogenesis of DS CHD.
authors.affiliation: Divisione di Pediatria, E.O. Ospedali Galliera, Genova, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Egeo
authors.forename: M
authors.initials: M
authors.lastname: Mazzocco
authors.forename: F
authors.initials: F
authors.lastname: Sotgia
authors.forename: P
authors.initials: P
authors.lastname: Arrigo
authors.forename: R
authors.initials: R
authors.lastname: Oliva
authors.forename: S
authors.initials: S
authors.lastname: Bergonòn
authors.forename: D
authors.initials: D
authors.lastname: Nizetic
authors.forename: A
authors.initials: A
authors.lastname: Rasore-Quartino
authors.forename: P
authors.initials: P
authors.lastname: Scartezzini
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002467:Cell Nucleus / Q000737:chemistry; D002478:Cells, Cultured; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics*; D004699:Endocardium / Q000166:cytology; D005318:Fetal Heart / Q000737:chemistry; D005347:Fibroblasts; D006331:Heart Diseases / Q000151:congenital; D006801:Humans; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000032:analysis / Q000235:genetics*; D009928:Organ Specificity; D012333:RNA, Messenger / Q000032:analysis; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid
chemical_list: D018076:DNA, Complementary; C111546:GET1 protein, human; D009687:Nuclear Proteins; D012333:RNA, Messenger