The PML-RAR alpha fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR

Cell. 1991 Aug 23;66(4):675-84. doi: 10.1016/0092-8674(91)90113-d.

Abstract

We have previously shown that the t(15;17) translocation specifically associated with acute promyelocytic leukemia (APL) fuses the retinoic acid receptor alpha (RAR alpha) locus to an as yet unknown gene, initially called myl and now renamed PML. We report here that this gene product contains a novel zinc finger motif common to several DNA-binding proteins. The PML-RAR alpha mRNA encodes a predicted 106 kd chimeric protein containing most of the PML sequences fused to a large part of RAR alpha, including its DNA- and hormone-binding domains. In transient expression assays, the hybrid protein exhibits altered transactivating properties if compared with the wild-type RAR alpha progenitor. Identical PML-RAR alpha fusion points are found in several patients. These observations suggest that in APL, the t(15;17) translocation generates an RAR mutant that could contribute to leukemogenesis through interference with promyelocytic differentiation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Binding, Competitive
  • Carrier Proteins / genetics*
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 17
  • Cloning, Molecular
  • DNA / genetics
  • Humans
  • Leukemia, Promyelocytic, Acute / genetics*
  • Molecular Sequence Data
  • Neoplasm Proteins*
  • Nuclear Proteins*
  • Oligonucleotides / chemistry
  • Polymerase Chain Reaction
  • Promyelocytic Leukemia Protein
  • RNA, Messenger / genetics
  • Receptors, Retinoic Acid
  • Transcription Factors / genetics*
  • Transcriptional Activation
  • Translocation, Genetic
  • Tretinoin*
  • Tumor Suppressor Proteins

Substances

  • Carrier Proteins
  • Neoplasm Proteins
  • Nuclear Proteins
  • Oligonucleotides
  • Promyelocytic Leukemia Protein
  • RNA, Messenger
  • Receptors, Retinoic Acid
  • Transcription Factors
  • Tumor Suppressor Proteins
  • PML protein, human
  • Tretinoin
  • DNA