Structure of the Promoter and Genomic Organization of the Human β′-Adaptin Gene (BAM22) from Chromosome 22q12

التفاصيل البيبلوغرافية
العنوان: Structure of the Promoter and Genomic Organization of the Human β′-Adaptin Gene (BAM22) from Chromosome 22q12
المؤلفون: Bruce A. Roe, Sandra W. Clifton, Karen Hartman, Jan P. Dumanski, Sofie Swahn, Myriam Peyrard, Ingegerd Fransson, Huaqin Pan, Darek Kedra
المصدر: Genomics. 36:112-117
بيانات النشر: Elsevier BV, 1996.
سنة النشر: 1996
مصطلحات موضوعية: Chromosomes, Human, Pair 22, Adaptor Protein Complex 1, DNA Mutational Analysis, Molecular Sequence Data, Locus (genetics), Biology, Gene mutation, Exon, Gene mapping, Meningeal Neoplasms, Genetics, Humans, Point Mutation, Adaptor Protein Complex beta Subunits, Genes, Tumor Suppressor, Promoter Regions, Genetic, Gene, Genomic organization, Base Composition, Base Sequence, Intron, Membrane Proteins, DNA, Exons, Sequence Analysis, DNA, Introns, Genes, Cosmid, CpG Islands, Meningioma, Polymorphism, Restriction Fragment Length
الوصف: 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.
تدمد: 0888-7543
DOI: 10.1006/geno.1996.0431
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::749f27b27326fbb55702cf18560bcc69
https://doi.org/10.1006/geno.1996.0431
Rights: OPEN
رقم الانضمام: edsair.doi.dedup.....749f27b27326fbb55702cf18560bcc69
قاعدة البيانات: OpenAIRE
الوصف
تدمد:08887543
DOI:10.1006/geno.1996.0431