title: Genomic organisation and chromosomal localisation of the gene encoding human beta adducin.
abstract: 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.
authors.affiliation: International Centre for Genetic Engineering and Biotechnology-UNIDO, Trieste, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Tisminetzky
authors.forename: G
authors.initials: G
authors.lastname: Devescovi
authors.forename: G
authors.initials: G
authors.lastname: Tripodi
authors.forename: A
authors.initials: A
authors.lastname: Muro
authors.forename: G
authors.initials: G
authors.lastname: Bianchi
authors.forename: M
authors.initials: M
authors.lastname: Colombi
authors.forename: L
authors.initials: L
authors.lastname: Moro
authors.forename: S
authors.initials: S
authors.lastname: Barlati
authors.forename: R
authors.initials: R
authors.lastname: Tuteja
authors.forename: F E
authors.initials: FE
authors.lastname: Baralle
mesh_terms: D017398:Alternative Splicing; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D002460:Cell Line; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003598:Cytoskeletal Proteins / Q000235:genetics*; D015870:Gene Expression; D005796:Genes; D006801:Humans; D012333:RNA, Messenger / Q000235:genetics; D015183:Restriction Mapping; D000099291:Adducins
chemical_list: D002148:Calmodulin-Binding Proteins; D003598:Cytoskeletal Proteins; D012333:RNA, Messenger; D000099291:Adducins