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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1998-4-24
|
| pubmed:databankReference | |
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
102
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
289-93
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:9544840-Adult,
pubmed-meshheading:9544840-Amino Acid Sequence,
pubmed-meshheading:9544840-Base Sequence,
pubmed-meshheading:9544840-Cell Nucleus,
pubmed-meshheading:9544840-Cells, Cultured,
pubmed-meshheading:9544840-Chromosome Mapping,
pubmed-meshheading:9544840-Chromosomes, Human, Pair 21,
pubmed-meshheading:9544840-Cloning, Molecular,
pubmed-meshheading:9544840-DNA, Complementary,
pubmed-meshheading:9544840-Endocardium,
pubmed-meshheading:9544840-Fetal Heart,
pubmed-meshheading:9544840-Fibroblasts,
pubmed-meshheading:9544840-Heart Diseases,
pubmed-meshheading:9544840-Humans,
pubmed-meshheading:9544840-Molecular Sequence Data,
pubmed-meshheading:9544840-Nuclear Proteins,
pubmed-meshheading:9544840-Organ Specificity,
pubmed-meshheading:9544840-RNA, Messenger,
pubmed-meshheading:9544840-Sequence Analysis, DNA,
pubmed-meshheading:9544840-Sequence Homology, Nucleic Acid
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein.
|
| pubmed:affiliation |
Divisione di Pediatria, E.O. Ospedali Galliera, Genova, Italy.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|