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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1-2
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pubmed:dateCreated |
1996-3-1
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pubmed:databankReference | |
pubmed:abstractText |
Adducin (ADD) is a heterodimeric protein of the membrane skeleton with subunits of 103 (alpha) and 97 kDa (beta). It promotes the assembly of the spectrin-actin network. We have previously shown that one point mutation in each of the alpha and beta rat ADD-encoding genes is associated with blood pressure variation in an animal model for hypertension, the Milan hypertensive strain of rats, probably due to a change in the phosphorylation pattern. In fact, the rat mutations, Y to F for alpha and R to Q for beta, are located, respectively, in a tyrosine kinase and a protein kinase A phosphorylation site. We have now determined, for the human beta-ADD-encoding gene, its chromosomal localisation, exon-intron organisation and alternative splicing patterns. We report here that human beta-ADD is localised on chromosome 2 and we also show a characteristic 3' end alternative splicing of the beta-ADD RNA that generates two distinct beta-ADD families, namely ADD 63 and 97; both of them in turn present a very complex differential splicing pattern in the internal exons.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0378-1119
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
29
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pubmed:volume |
167
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
313-6
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pubmed:dateRevised |
2005-11-17
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pubmed:meshHeading |
pubmed-meshheading:8566798-Alternative Splicing,
pubmed-meshheading:8566798-Calmodulin-Binding Proteins,
pubmed-meshheading:8566798-Cell Line,
pubmed-meshheading:8566798-Chromosome Mapping,
pubmed-meshheading:8566798-Chromosomes, Human, Pair 2,
pubmed-meshheading:8566798-Cytoskeletal Proteins,
pubmed-meshheading:8566798-Gene Expression,
pubmed-meshheading:8566798-Genes,
pubmed-meshheading:8566798-Humans,
pubmed-meshheading:8566798-RNA, Messenger,
pubmed-meshheading:8566798-Restriction Mapping
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pubmed:year |
1995
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pubmed:articleTitle |
Genomic organisation and chromosomal localisation of the gene encoding human beta adducin.
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pubmed:affiliation |
International Centre for Genetic Engineering and Biotechnology-UNIDO, Trieste, Italy.
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pubmed:publicationType |
Journal Article
|