Rearrangements and aberrant expression of the retinoic acid receptor α gene in acute promyelocytic leukemias

Although acute promyelocytic leukemias (APLs) are consistently associated with a reciprocal chromosome 15;17 translocation, the gene(s) directly affected by the breakpoints have never been isolated. The chromosome 17 breakpoint maps to near the retinoic acid receptor alpha (RAR alpha) locus. Investi...

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Bibliographic Details
Published in:The Journal of experimental medicine 1990-12, Vol.172 (6), p.1571-1575
Main Authors: LONGO, L, PANDOLFI, P. P, ZANGRILLI, D, ALCALAY, M, DONTI, E, GRIGNANI, F, PELICCI, P. G, BIONDI, A, RAMBALDI, A, MENCARELLI, A, LO COCO, F, DIVERIO, D, PEGORARO, L, AVANZI, G, TABILIO, A
Format: Article
Language:English
Subjects:
Biological and medical sciences
Blotting, Northern
Blotting, Southern
Carrier Proteins - genetics
DNA Probes
DNA, Neoplasm - genetics
DNA, Neoplasm - isolation & purification
Gene Rearrangement
Genes
Hematologic and hematopoietic diseases
Humans
Karyotyping
Leukemia, Promyelocytic, Acute - genetics
Leukemia, Promyelocytic, Acute - metabolism
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Medical sciences
Receptors, Retinoic Acid
Restriction Mapping
Tretinoin - metabolism
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Summary:Although acute promyelocytic leukemias (APLs) are consistently associated with a reciprocal chromosome 15;17 translocation, the gene(s) directly affected by the breakpoints have never been isolated. The chromosome 17 breakpoint maps to near the retinoic acid receptor alpha (RAR alpha) locus. Investigation of 20 APLs and a large series of other neoplastic patients and normal controls revealed RAR alpha gene rearrangements and aberrant transcripts only in the APL cases. These findings suggest that the RAR alpha gene is involved in the APL chromosome 17 breakpoint, is implicated in leukemogenesis, and could be used as a marker for identifying leukemic promyelocytes.
ISSN:0022-1007
1540-9538
DOI:10.1084/jem.172.6.1571