title: The human islet amyloid polypeptide (IAPP) gene. Organization, chromosomal localization and functional identification of a promoter region.
abstract: We report the isolation and characterization of the human gene encoding islet amyloid polypeptide (IAPP). Previously characterized cDNA sequences correspond to three exons of which the first is noncoding. A functional promoter region was identified in the 5' flanking DNA; however, this was farther upstream than expected. Northern blot analysis of human insulinoma RNA revealed three IAPP mRNAs of sizes 1.2, 1.8 and 2.1 kb, in agreement with three polyadenylation signals present in the 3' end of the gene. In situ hybridization to metaphase chromosomes resulted in two distinct peaks on chromosome 12, at 12p12-p13 and 12q13-q14. Southern blot analysis of genomic DNA suggested a single IAPP locus but also indicated the presence of additional homologous sequences in human genomic DNA.
authors.affiliation: Department of Pathology, University Hospital, Uppsala, Sweden.
authors.forename: L
authors.initials: L
authors.lastname: Christmanson
authors.forename: F
authors.initials: F
authors.lastname: Rorsman
authors.forename: G
authors.initials: G
authors.lastname: Stenman
authors.forename: P
authors.initials: P
authors.lastname: Westermark
authors.forename: C
authors.initials: C
authors.lastname: Betsholtz
mesh_terms: D000595:Amino Acid Sequence; D000682:Amyloid / Q000235:genetics*; D001483:Base Sequence; D015152:Blotting, Northern; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000648:ultrastructure*; D004247:DNA / Q000032:analysis; D004274:DNA, Recombinant / Q000032:analysis; D005786:Gene Expression Regulation; D006801:Humans; D066298:In Vitro Techniques; D058228:Islet Amyloid Polypeptide; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic; D012260:Ribonucleases; D012689:Sequence Homology, Nucleic Acid
chemical_list: D000682:Amyloid; D004274:DNA, Recombinant; D058228:Islet Amyloid Polypeptide; D004247:DNA; D012260:Ribonucleases