The critical role of chromosome translocations in human leukemias

Annu Rev Genet. 1998;32:495-519. doi: 10.1146/annurev.genet.32.1.495.


Many chromosome abnormalities, especially translocations of inversions, are closely associated with a particular morphologic or phenotypic subtype of leukemia, lymphoma, or sarcoma. Cloning the genes at the breakpoints of these rearrangements has had a major impact on our understanding of the molecular biology of cancer. One such gene is MLL (myeloid-lymphoid or mixed lineage leukemia) located at chromosome band 11q23. The target gene(s) of MLL is unknown at present, but because of its homology to the trithorax gene in Drosophila as well as experimental data from mice, it appears to be involved in maintaining the function of some of the homeobox genes. Most genes involved in translocations have homologs in other organisms. Comparison of the functions of these genes in human cells with their function in other systems has enriched our understanding of their role in cell biology.

Publication types

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

MeSH terms

  • Animals
  • Artificial Gene Fusion
  • Chromosomes, Human, Pair 11 / genetics
  • Cloning, Molecular
  • Core Binding Factor Alpha 2 Subunit
  • DNA-Binding Proteins / genetics
  • Drosophila / genetics
  • Drosophila Proteins*
  • Genes, Insect
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Leukemia / genetics*
  • Mice
  • Mice, Knockout
  • Myeloid-Lymphoid Leukemia Protein
  • Proto-Oncogene Proteins*
  • Proto-Oncogenes*
  • Transcription Factors / genetics
  • Translocation, Genetic*


  • Core Binding Factor Alpha 2 Subunit
  • DNA-Binding Proteins
  • Drosophila Proteins
  • KMT2A protein, human
  • Proto-Oncogene Proteins
  • RUNX1 protein, human
  • Runx1 protein, mouse
  • Transcription Factors
  • Trl protein, Drosophila
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase
  • Kmt2a protein, mouse