Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein.
Hum Genet
; 102(3): 289-93, 1998 Mar.
Article
em En
| MEDLINE
| ID: mdl-9544840
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 21
/
Proteínas Nucleares
/
DNA Complementar
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Humans
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
1998
Tipo de documento:
Article