Expression pattern of the RAR alpha-PML fusion gene in acute promyelocytic leukemia

  1. M Alcalay,
  2. D Zangrilli,
  3. M Fagioli,
  4. P P Pandolfi,
  5. A Mencarelli,
  6. F Lo Coco,
  7. A Biondi,
  8. F Grignani, and
  9. P G Pelicci
  1. Istituto Clinica Medica I, University of Perugia, Policlinico Monteluce, Italy.

Abstract

Two chimeric genes, PML-RAR alpha and RAR alpha-PML, are formed as a consequence of the acute promyelocytic leukemia (APL)-specific reciprocal translocation of chromosomes 15 and 17 [t(15;17)]. PML-RAR alpha is expressed as a fusion protein. We investigated the organization and expression pattern of the RAR alpha-PML gene in a series of APL patients representative of the molecular heterogeneity of the t(15;17) and found (i) two types of RAR alpha-PML mRNA junctions (RAR alpha exon 2/PML exon 4 or RAR alpha exon 2/PML exon 7) that maintain the RAR alpha and PML longest open reading frames aligned and are the result of chromosome 15 breaking at two different sites; and (ii) 10 different RAR alpha-PML fusion transcripts that differ for the assembly of their PML coding exons. A RAR alpha-PML transcript was present in most, but not all, APL patients.

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