title: Organization of the human beta-adducin gene (ADD2).
abstract: The intron-exon organization of the human beta-adducin gene (ADD2) has been determined from overlapping genomic clones. The gene spans over 100 kb on chromosome 2p13 and comprises 17 exons. Seven of the exons are identical in size to the corresponding exons of the alpha-adducin gene (4p16.3), suggesting gene duplication. A 275-bp fragment 5' to exon 1 demonstrates strong promoter activity in a transient transfection assay. Within 333 bp 5' of the first exon can be found several putative transcription factor-binding sites: three SP1 sites, one GATA site, three MZF1 sites, one p300 site, and one c-Ets site. Alternatively spliced exons in the 3' region are described and contain distinct coding regions, stop codons, and 3'UTR, corresponding to previously published beta-adducin cDNA sequences beta-1 and beta-2. The alternative splice sites for the smallest adducin isoform, beta-3, are alternative donor and acceptor sites within exons 7 and 12. The most recently described isoform, beta-4, includes an alternative exon (exon 15) that results in a frame shift and early termination. Intron-exon splice sites are presented for all 17 exons and conform to the consensus sequences for mammalian splice sites. These results will be useful in further analysis of tissue-specific expression of adducin isoforms and in analysis of DNA from patients with diseases mapping to this region of chromosome 2.
authors.affiliation: Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
authors.forename: D M
authors.initials: DM
authors.lastname: Gilligan
authors.forename: L
authors.initials: L
authors.lastname: Lozovatsky
authors.forename: A
authors.initials: A
authors.lastname: Silberfein
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D001483:Base Sequence; D001665:Binding Sites; D002148:Calmodulin-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003001:Cloning, Molecular; D016384:Consensus Sequence / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000737:chemistry / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D008156:Luciferases / Q000235:genetics / Q000378:metabolism; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic / Q000235:genetics; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics; D014162:Transfection / Q000235:genetics; D000099291:Adducins
chemical_list: D002148:Calmodulin-Binding Proteins; D003598:Cytoskeletal Proteins; D008156:Luciferases; D014157:Transcription Factors; D000099291:Adducins