Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered

Oncogene. 1999 Jan 14;18(2):543-50. doi: 10.1038/sj.onc.1202321.

Abstract

The inv(16) and related t(16;16) are found in 10% of all cases with de novo acute myeloid leukemia. In these rearrangements the core binding factor beta (CBFB) gene on 16q22 is fused to the smooth muscle myosin heavy chain gene (MYH11) on 16p13. To gain insight into the mechanisms causing the inv(16) we have analysed 24 genomic CBFB-MYH11 breakpoints. All breakpoints in CBFB are located in a 15-Kb intron. More than 50% of the sequenced 6.2 Kb of this intron consists of human repetitive elements. Twenty-one of the 24 breakpoints in MYH11 are located in a 370-bp intron. The remaining three breakpoints in MYH11 are located more upstream. The localization of three breakpoints adjacent to a V(D)J recombinase signal sequence in MYH11 suggests a V(D)J recombinase-mediated rearrangement in these cases. V(D)J recombinase-associated characteristics (small nucleotide deletions and insertions of random nucleotides) were detected in six other cases. CBFB and MYH11 duplications were detected in four of six cases tested.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Base Sequence
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 16*
  • Cloning, Molecular
  • Core Binding Factor beta Subunit
  • DNA, Complementary
  • DNA-Binding Proteins / genetics
  • Humans
  • Introns
  • Leukemia, Myeloid / genetics*
  • Molecular Sequence Data
  • Sequence Homology, Nucleic Acid
  • Transcription Factor AP-2
  • Transcription Factors / genetics

Substances

  • CBFB protein, human
  • Core Binding Factor beta Subunit
  • DNA, Complementary
  • DNA-Binding Proteins
  • Transcription Factor AP-2
  • Transcription Factors

Associated data

  • GENBANK/AF151981