title: Genomic organization of the human gamma adducin gene.
abstract: We report the genomic structure of the human gamma adducin gene (ADD3). Adducin is a protein involved in cytoskeletal assembly and composed of alpha-beta or alpha-gamma subunits which share a high degree of homology between human and rat. Mutations in alpha subunit have been shown associated to both human and rat hypertension. The human ADD3 gene spans over 20 kb and is composed of at least 13 introns and 14 exons covering the entire coding region. The exon size ranges from 81 bp to greater than 293 bp and the intron size from 111 bp to longer than 3.2 kb. We also demonstrate the presence of an alternative splicing event around exon 13, whose sequence, position, and expression is analogous in rat Add3 gene. Moreover, human ADD3 amino acid sequence presents 91.9% of identity compared to rat sequence. Characterization of human ADD3 gene provides an important tool for mutation analysis.
authors.affiliation: Division of Nephrology, Dialysis and Hypertension, San Raffaele Hospital, Milan, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Citterio
authors.forename: T
authors.initials: T
authors.lastname: Azzani
authors.forename: S
authors.initials: S
authors.lastname: Duga
authors.forename: G
authors.initials: G
authors.lastname: Bianchi
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002148:Calmodulin-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D005091:Exons / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D007438:Introns / Q000235:genetics*; D008969:Molecular Sequence Data; D016366:Open Reading Frames / Q000235:genetics*; D020161:Physical Chromosome Mapping; D051381:Rats; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D016324:Sequence Tagged Sites; D000099291:Adducins
chemical_list: D002148:Calmodulin-Binding Proteins; D000099291:Adducins