Rearrangement of the retinoic acid receptor gene in acute promyelocytic leukemia

Kun Sang Chang, Jose M. Trujillo, Toshihiko Ogura, C. M. Castiglione, Kenneth K. Kidd, Shourong Zhao, Emil J. Freireich, Sanford A. Stass

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44 Citations (Scopus)


The retinoic acid receptor-alpha (RAR-α) gene was previously localized to chromosome 17q21, a region close to the t(15;17) (q22;q21) abnormality in acute promyelocytic leukemia (APL). We used the RAR-α gene as a probe and found that eight of nine APL patient samples with t(15;17) (q22;q21) showed rearranged bands. A tenth APL patient was diploid and demonstrated no rearrangement. One patient who had rearrangement as an acute leukemia did not have rearrangement in remission. The results obtained from intron/exon mapping of the RAR-α gene demonstrated that breakpoints of seven of the eight patients occurred within intron 1. Northern blot analysis of leukemic samples indicated the expression of two RAR-α mRNA of 2.7 and 3.7 kb. However, two additional mRNA of 4.1 and 3.2 kb were found in an APL patient. We conclude that the RAR-α gene is directly involved in the t(15;17) translocation in APL and may transcribe aberrant messages.

Original languageEnglish
Pages (from-to)200-204
Number of pages5
Issue number3
Publication statusPublished - 1991 Mar


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