Translocation breakpoint of acute promyelocytic leukemia lies within the retinoic acid receptor α locus

M. Alcalay, D. Zangrilli, P. P. Pandolfi, L. Longo, A. Mencarelli, A. Giacomucci, M. Rocchi, A. Biondi, A. Rambaldi, F. Lo Coco, D. Diverio, E. Donti, F. Grignani, P. G. Pelicci

Research output: Contribution to journalArticlepeer-review

Abstract

Acute promyelocytic leukemias (APLs) are characterized by a reciprocal balanced translocation that involves chromosomes 15 and 17 [t(15;17)]. We report the isolation and characterization of one of the two reciprocal break sites and demonstrate that the chromosome 17 breakpoint lies within the retinoic acid receptor α locus. Nucleotide sequencing of the 15;17 cross-over junction on 15q+ showed that the retinoic acid receptor α gene is truncated within its first intron, 370 base pairs upstream from the splicing donor site of exon II. Such a recombination would be expected to generate abnormal RARα mRNA and protein. Southern blot analysis of a number of APLs with chromosome 15- and 17-derived DNA probes revealed similar 15;17 recombinations in the majority of other APLs. Our data are strong evidence that the retinoic acid receptor α gene plays a crucial role in the leukemogenesis of APL.

Original languageEnglish
Pages (from-to)1977-1981
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Volume88
Issue number5
Publication statusPublished - 1991

Keywords

  • leukemogenesis
  • rearrangements

ASJC Scopus subject areas

  • Genetics
  • General

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