Genomic structure of the PIK3CG gene on chromosome band 7q22 and evaluation as a candidate myeloid tumor suppressor

Blood. 2002 Jan 1;99(1):372-4. doi: 10.1182/blood.v99.1.372.

Abstract

PIK3CG, which encodes the catalytic subunit p110 gamma of phosphoinositide 3-OH-kinase-gamma (PI3K gamma), has been assigned to chromosome band 7q22, a region that is frequently deleted in myeloid malignancies. PI3K gamma-mutant mice have hematologic defects and are predisposed to colon cancer. On the basis of these data, PIK3CG was evaluated as a candidate myeloid tumor suppressor gene (TSG). PIK3CG was mapped by fluorescence in situ hybridization adjacent and telomeric to a commonly deleted segment defined previously in myeloid leukemias with breakpoints within 7q22. PIK3CG contains 10 exons and spans approximately 37 kilobases of genomic DNA. Forty leukemias with monosomy 7 or a del(7q) were screened for PIK3CG mutations. Two patients had missense variations affecting residue 859 in the N-terminal catalytic domain of the protein. This allele was also detected in unaffected parents and in 1 of 60 control alleles; it probably represents a polymorphism. PIK3CG is unlikely to act as a recessive TSG in myeloid leukemias with monosomy 7.

Publication types

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

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Artificial, Bacterial
  • Chromosomes, Human, Pair 7*
  • DNA Mutational Analysis
  • Databases as Topic
  • Gene Deletion
  • Genes, Tumor Suppressor*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myeloid / genetics*
  • Monosomy
  • Mutation, Missense
  • Phosphatidylinositol 3-Kinases / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic

Substances

  • Phosphatidylinositol 3-Kinases