title: Structure of the promoter and genomic organization of the human beta'-adaptin gene (BAM22) from chromosome 22q12.
abstract: Adaptins are major structural components of heterotetrameric protein complexes called adaptors, which are essential in intracellular receptor transport via clathrin-coated vesicles. beta-adaptins constitute one of three known classes (alpha, beta, gamma) of adaptins, including beta and beta' subtypes. We previously cloned the human beta'-adaptin gene (BAM22) (GDB symbol, ADTB1) from chromosome 22q12 and proposed its involvement in the development of meningiomas. Here we describe the genomic organization of this gene, which consists of 22 exons spanning over approximately 100 kb. We also report results from point mutation screening of 7 randomly chosen exons analyzed in 110 sporadic meningiomas. As part of the genomic characterization of the BAM22 locus, we sequenced 40 kb covering exons 1-4 and 12 kb upstream from the start of gene transcription. Analysis of the sequence suggests that the BAM22 gene has a CG-rich promoter.
authors.affiliation: Department of Molecular Medicine, Karolinska Hospital, Stockholm, S-171 76, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Peyrard
authors.forename: H Q
authors.initials: HQ
authors.lastname: Pan
authors.forename: D
authors.initials: D
authors.lastname: Kedra
authors.forename: I
authors.initials: I
authors.lastname: Fransson
authors.forename: S
authors.initials: S
authors.lastname: Swahn
authors.forename: K
authors.initials: K
authors.lastname: Hartman
authors.forename: S W
authors.initials: SW
authors.lastname: Clifton
authors.forename: B A
authors.initials: BA
authors.lastname: Roe
authors.forename: J P
authors.initials: JP
authors.lastname: Dumanski
mesh_terms: D033961:Adaptor Protein Complex 1; D033966:Adaptor Protein Complex beta Subunits; D001482:Base Composition; D001483:Base Sequence; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D018899:CpG Islands / Q000235:genetics; D004247:DNA / Q000737:chemistry; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005796:Genes / Q000235:genetics*; D016147:Genes, Tumor Suppressor / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D008577:Meningeal Neoplasms / Q000235:genetics*; D008579:Meningioma / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C439126:AP1B1 protein, human; D033961:Adaptor Protein Complex 1; D033966:Adaptor Protein Complex beta Subunits; D008565:Membrane Proteins; D004247:DNA