title: Genomic organization of the human alpha-adducin gene and its alternately spliced isoforms.
abstract: The cDNA for the human alpha-adducin gene has been cloned, and different alternately spliced forms have been identified. We report the complete genomic organization of the human alpha-adducin gene and these alternately spliced forms. The human alpha-adducin gene, spanning approximately 85 kb, consists of 16 exons ranging in size from 34 to 1892 bp. One of the spliced forms of the human alpha-adducin gene results from alternate use of the 5' splice donor site for exon 10, while another results in a truncated protein following insertion of 34 bp comprising exon 15, followed by a premature stop codon. This alternate spliced form of alpha-adducin is predicted to result in an altered carboxyl terminus that would eliminate a protein kinase and calmodulin binding site. Seven nucleotide substitutions and 4 insertion/deletions were also identified. The 5' region of the human alpha-adducin gene contains one Sp1 site, two AP2 sites, and two CAAT boxes. No TATA box was apparent, consistent with features of a housekeeping gene. We have mapped another cDNA within the first intron of the human alpha-adducin gene, suggesting overlapping genes in this 4p16.3 genomic region.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: B
authors.initials: B
authors.lastname: Lin
authors.forename: J
authors.initials: J
authors.lastname: Nasir
authors.forename: H
authors.initials: H
authors.lastname: McDonald
authors.forename: R
authors.initials: R
authors.lastname: Graham
authors.forename: J M
authors.initials: JM
authors.lastname: Rommens
authors.forename: Y P
authors.initials: YP
authors.lastname: Goldberg
authors.forename: M R
authors.initials: MR
authors.lastname: Hayden
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001798:Blood Proteins / Q000096:biosynthesis / Q000235:genetics; D002148:Calmodulin-Binding Proteins / Q000096:biosynthesis* / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4; D003062:Codon; D003360:Cosmids; D006224:Cricetinae; D017931:DNA Primers; D004251:DNA Transposable Elements; D005091:Exons; D015723:Gene Library; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D017384:Sequence Deletion; D012689:Sequence Homology, Nucleic Acid; D000099291:Adducins
chemical_list: D001798:Blood Proteins; D002148:Calmodulin-Binding Proteins; D003062:Codon; D017931:DNA Primers; D004251:DNA Transposable Elements; D000099291:Adducins