Structure of the promoter and genomic organization of the human beta'-adaptin gene (BAM22) from chromosome 22q12. 1996

M Peyrard, and H Q Pan, and D Kedra, and I Fransson, and S Swahn, and K Hartman, and S W Clifton, and B A Roe, and J P Dumanski
Department of Molecular Medicine, Karolinska Hospital, Stockholm, S-171 76, Sweden.

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.

UI MeSH Term Description Entries
D007438 Introns Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes. Intervening Sequences,Sequences, Intervening,Intervening Sequence,Intron,Sequence, Intervening
D008565 Membrane Proteins Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors. Cell Membrane Protein,Cell Membrane Proteins,Cell Surface Protein,Cell Surface Proteins,Integral Membrane Proteins,Membrane-Associated Protein,Surface Protein,Surface Proteins,Integral Membrane Protein,Membrane Protein,Membrane-Associated Proteins,Membrane Associated Protein,Membrane Associated Proteins,Membrane Protein, Cell,Membrane Protein, Integral,Membrane Proteins, Integral,Protein, Cell Membrane,Protein, Cell Surface,Protein, Integral Membrane,Protein, Membrane,Protein, Membrane-Associated,Protein, Surface,Proteins, Cell Membrane,Proteins, Cell Surface,Proteins, Integral Membrane,Proteins, Membrane,Proteins, Membrane-Associated,Proteins, Surface,Surface Protein, Cell
D008577 Meningeal Neoplasms Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord. Intracranial Meningeal Neoplasms,Spinal Meningeal Neoplasms,Benign Meningeal Neoplasms,Leptomeningeal Neoplasms,Malignant Meningeal Neoplasms,Meningeal Cancer,Meningeal Neoplasms, Benign,Meningeal Neoplasms, Intracranial,Meningeal Neoplasms, Malignant,Meningeal Tumors,Neoplasms, Leptomeningeal,Neoplasms, Meningeal,Benign Meningeal Neoplasm,Cancer, Meningeal,Cancers, Meningeal,Intracranial Meningeal Neoplasm,Leptomeningeal Neoplasm,Malignant Meningeal Neoplasm,Meningeal Cancers,Meningeal Neoplasm,Meningeal Neoplasm, Benign,Meningeal Neoplasm, Intracranial,Meningeal Neoplasm, Malignant,Meningeal Neoplasm, Spinal,Meningeal Neoplasms, Spinal,Meningeal Tumor,Neoplasm, Benign Meningeal,Neoplasm, Intracranial Meningeal,Neoplasm, Leptomeningeal,Neoplasm, Malignant Meningeal,Neoplasm, Meningeal,Neoplasm, Spinal Meningeal,Neoplasms, Benign Meningeal,Neoplasms, Intracranial Meningeal,Neoplasms, Malignant Meningeal,Neoplasms, Spinal Meningeal,Spinal Meningeal Neoplasm,Tumor, Meningeal,Tumors, Meningeal
D008579 Meningioma A relatively common neoplasm of the CENTRAL NERVOUS SYSTEM that arises from arachnoidal cells. The majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Meningiomas have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and SPINAL CANAL. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2056-7) Benign Meningioma,Malignant Meningioma,Meningiomas, Multiple,Meningiomatosis,Angioblastic Meningioma,Angiomatous Meningioma,Cerebral Convexity Meningioma,Clear Cell Meningioma,Fibrous Meningioma,Hemangioblastic Meningioma,Hemangiopericytic Meningioma,Intracranial Meningioma,Intraorbital Meningioma,Intraventricular Meningioma,Meningotheliomatous Meningioma,Microcystic Meningioma,Olfactory Groove Meningioma,Papillary Meningioma,Parasagittal Meningioma,Posterior Fossa Meningioma,Psammomatous Meningioma,Secretory Meningioma,Sphenoid Wing Meningioma,Spinal Meningioma,Transitional Meningioma,Xanthomatous Meningioma,Angioblastic Meningiomas,Angiomatous Meningiomas,Benign Meningiomas,Cerebral Convexity Meningiomas,Clear Cell Meningiomas,Convexity Meningioma, Cerebral,Convexity Meningiomas, Cerebral,Fibrous Meningiomas,Groove Meningiomas, Olfactory,Hemangioblastic Meningiomas,Hemangiopericytic Meningiomas,Intracranial Meningiomas,Intraorbital Meningiomas,Intraventricular Meningiomas,Malignant Meningiomas,Meningioma, Angioblastic,Meningioma, Angiomatous,Meningioma, Benign,Meningioma, Cerebral Convexity,Meningioma, Clear Cell,Meningioma, Fibrous,Meningioma, Hemangioblastic,Meningioma, Hemangiopericytic,Meningioma, Intracranial,Meningioma, Intraorbital,Meningioma, Intraventricular,Meningioma, Malignant,Meningioma, Meningotheliomatous,Meningioma, Microcystic,Meningioma, Multiple,Meningioma, Olfactory Groove,Meningioma, Papillary,Meningioma, Parasagittal,Meningioma, Posterior Fossa,Meningioma, Psammomatous,Meningioma, Secretory,Meningioma, Sphenoid Wing,Meningioma, Spinal,Meningioma, Transitional,Meningioma, Xanthomatous,Meningiomas,Meningiomas, Angioblastic,Meningiomas, Angiomatous,Meningiomas, Benign,Meningiomas, Cerebral Convexity,Meningiomas, Clear Cell,Meningiomas, Fibrous,Meningiomas, Hemangioblastic,Meningiomas, Hemangiopericytic,Meningiomas, Intracranial,Meningiomas, Intraorbital,Meningiomas, Intraventricular,Meningiomas, Malignant,Meningiomas, Meningotheliomatous,Meningiomas, Microcystic,Meningiomas, Olfactory Groove,Meningiomas, Papillary,Meningiomas, Parasagittal,Meningiomas, Posterior Fossa,Meningiomas, Psammomatous,Meningiomas, Secretory,Meningiomas, Sphenoid Wing,Meningiomas, Spinal,Meningiomas, Transitional,Meningiomas, Xanthomatous,Meningiomatoses,Meningotheliomatous Meningiomas,Microcystic Meningiomas,Multiple Meningioma,Multiple Meningiomas,Olfactory Groove Meningiomas,Papillary Meningiomas,Parasagittal Meningiomas,Posterior Fossa Meningiomas,Psammomatous Meningiomas,Secretory Meningiomas,Sphenoid Wing Meningiomas,Spinal Meningiomas,Transitional Meningiomas,Wing Meningioma, Sphenoid,Wing Meningiomas, Sphenoid,Xanthomatous Meningiomas
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D011401 Promoter Regions, Genetic DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes. rRNA Promoter,Early Promoters, Genetic,Late Promoters, Genetic,Middle Promoters, Genetic,Promoter Regions,Promoter, Genetic,Promotor Regions,Promotor, Genetic,Pseudopromoter, Genetic,Early Promoter, Genetic,Genetic Late Promoter,Genetic Middle Promoters,Genetic Promoter,Genetic Promoter Region,Genetic Promoter Regions,Genetic Promoters,Genetic Promotor,Genetic Promotors,Genetic Pseudopromoter,Genetic Pseudopromoters,Late Promoter, Genetic,Middle Promoter, Genetic,Promoter Region,Promoter Region, Genetic,Promoter, Genetic Early,Promoter, rRNA,Promoters, Genetic,Promoters, Genetic Middle,Promoters, rRNA,Promotor Region,Promotors, Genetic,Pseudopromoters, Genetic,Region, Genetic Promoter,Region, Promoter,Region, Promotor,Regions, Genetic Promoter,Regions, Promoter,Regions, Promotor,rRNA Promoters
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002892 Chromosomes, Human, Pair 22 A specific pair of GROUP G CHROMOSOMES of the human chromosome classification. Chromosome 22
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA

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