Alu elements mediate MYB gene tandem duplication in human T-ALL

J Exp Med. 2007 Dec 24;204(13):3059-66. doi: 10.1084/jem.20071637. Epub 2007 Dec 10.

Abstract

Recent studies have demonstrated that the MYB oncogene is frequently duplicated in human T cell acute lymphoblastic leukemia (T-ALL). We find that the human MYB locus is flanked by 257-bp Alu repeats and that the duplication is mediated somatically by homologous recombination between the flanking Alu elements on sister chromatids. Nested long-range PCR analysis indicated a low frequency of homologous recombination leading to MYB tandem duplication in the peripheral blood mononuclear cells of approximately 50% of healthy individuals, none of whom had a MYB duplication in the germline. We conclude that Alu-mediated MYB tandem duplication occurs at low frequency during normal thymocyte development and is clonally selected during the molecular pathogenesis of human T-ALL.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alu Elements / genetics*
  • Base Sequence
  • Gene Duplication*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia-Lymphoma, Adult T-Cell / genetics*
  • Models, Biological
  • Models, Genetic
  • Molecular Sequence Data
  • Nucleic Acid Hybridization
  • Polymerase Chain Reaction
  • Proto-Oncogene Proteins c-myb / genetics*
  • Recombination, Genetic

Substances

  • Proto-Oncogene Proteins c-myb

Associated data

  • GEO/GSE7615