title: Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene.
abstract: A 140 kb homozygous deletion from 22q12 in one meningioma directed us towards the cloning and characterization of a new member of the human beta-adaptin gene family (named BAM22). Adaptins are essential for the formation of clathrin coated vesicles in the course of intracellular transport of receptor-ligand complexes. The BAM22 gene is totally inactivated in the tumor with homozygous deletion. Northern blot analysis of 70 sporadic meningiomas showed specific loss of expression in 8 tumors, suggesting inactivation of BAM22. Based on this, we propose BAM22 as a second chromosome 22 locus important in meningioma development, after the neurofibromatosis type 2 gene.
authors.affiliation: Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Peyrard
authors.forename: I
authors.initials: I
authors.lastname: Fransson
authors.forename: Y G
authors.initials: YG
authors.lastname: Xie
authors.forename: F Y
authors.initials: FY
authors.lastname: Han
authors.forename: M H
authors.initials: MH
authors.lastname: Ruttledge
authors.forename: S
authors.initials: S
authors.lastname: Swahn
authors.forename: J E
authors.initials: JE
authors.lastname: Collins
authors.forename: I
authors.initials: I
authors.lastname: Dunham
authors.forename: V P
authors.initials: VP
authors.lastname: Collins
authors.forename: J P
authors.initials: JP
authors.lastname: Dumanski
mesh_terms: D033961:Adaptor Protein Complex 1; D033966:Adaptor Protein Complex beta Subunits; D017398:Alternative Splicing; D001483:Base Sequence; D015152:Blotting, Northern; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D003001:Cloning, Molecular; D017353:Gene Deletion; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008577:Meningeal Neoplasms / Q000235:genetics*; D008579:Meningioma / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: C439126:AP1B1 protein, human; D033961:Adaptor Protein Complex 1; D033966:Adaptor Protein Complex beta Subunits; D008565:Membrane Proteins