Mutations in the coding region of c-myc occur independently of mutations in the regulatory regions and are predominantly associated with myc/Ig translocation

Curr Top Microbiol Immunol. 1995:194:389-98. doi: 10.1007/978-3-642-79275-5_45.

Abstract

Constitutive expression of c-myc resulting from a chromosomal translocation, which juxtaposes c-myc to an immunoglobulin gene, is a pivotal lesion in Burkitt's lymphomas. This deregulated expression of c-myc is associated with mutations in the regulatory regions, i.e. the first exon and the first intron of c-myc in tumors where the chromosomal breakpoint is not itself within the regulatory region. Until recently it was widely believed that the c-myc protein in these tumors is wild type. We have demonstrated that in a fraction of Burkitt's lymphomas from Africa and from the continental USA, and in mouse plasmacytomas, the c-myc gene carries mutations in the coding region. We now show that, occasionally, such mutations are also present in multiple myelomas--tumors which do not carry translocations or amplifications of c-myc. We also show that the frequency of the c-myc coding region mutations in BL is independent of the frequency of mutations in the regulatory region. These results suggest that the mechanisms that induce missense mutations involving the coding region of c-myc may be different from those that lead to mutations in the regulatory regions.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Burkitt Lymphoma / genetics*
  • Burkitt Lymphoma / virology
  • Chromosomes, Human, Pair 8 / ultrastructure*
  • DNA Mutational Analysis
  • DNA, Neoplasm / genetics*
  • Genes, Immunoglobulin*
  • Genes, myc*
  • Herpesviridae Infections / genetics
  • Herpesviridae Infections / virology
  • Herpesvirus 4, Human / isolation & purification
  • Humans
  • Immunoglobulin Heavy Chains / genetics*
  • Leukemia, Plasma Cell / genetics*
  • Multiple Myeloma / genetics*
  • Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Translocation, Genetic*
  • Tumor Virus Infections / genetics
  • Tumor Virus Infections / virology

Substances

  • DNA, Neoplasm
  • Immunoglobulin Heavy Chains