Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene

Hum Mol Genet. 1994 Aug;3(8):1393-9. doi: 10.1093/hmg/3.8.1393.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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

Substances

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

Associated data

  • GENBANK/L13939