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: M Peyrard, I Fransson, Y G Xie, F Y Han, M H Ruttledge, S Swahn, J E Collins, I Dunham, V P Collins, J P Dumanski
• Journal: Human molecular genetics (Hum Mol Genet) Vol. 3 Issue 8 Pg. 1393-9 (Aug 1994) ISSN: 0964-6906 [Print] England
• PMID: 7987321 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• AP1B1 protein, human
• Adaptor Protein Complex 1
• Adaptor Protein Complex beta Subunits
• Membrane Proteins

Topics

• Adaptor Protein Complex 1
• Adaptor Protein Complex beta Subunits
• Alternative Splicing
• Base Sequence
• Blotting, Northern
• Chromosome Mapping
• Chromosomes, Human, Pair 22
• Cloning, Molecular
• Gene Deletion
• Humans
• Membrane Proteins (genetics)
• Meningeal Neoplasms (genetics)
• Meningioma (genetics)
• Molecular Sequence Data
• Point Mutation (genetics)
• Polymerase Chain Reaction
• Polymorphism, Restriction Fragment Length