title: Rearrangement of the retinoic acid receptor gene in acute promyelocytic leukemia.
abstract: The retinoic acid receptor-alpha (RAR-alpha) 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-alpha 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-alpha 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-alpha 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-alpha gene is directly involved in the t(15;17) translocation in APL and may transcribe aberrant messages.
authors.affiliation: Division of Laboratory Medicine, University of Texas MD Anderson Cancer Center, Houston 77030.
authors.forename: K S
authors.initials: KS
authors.lastname: Chang
authors.forename: J M
authors.initials: JM
authors.lastname: Trujillo
authors.forename: T
authors.initials: T
authors.lastname: Ogura
authors.forename: C M
authors.initials: CM
authors.lastname: Castiglione
authors.forename: K K
authors.initials: KK
authors.lastname: Kidd
authors.forename: S R
authors.initials: SR
authors.lastname: Zhao
authors.forename: E J
authors.initials: EJ
authors.lastname: Freireich
authors.forename: S A
authors.initials: SA
authors.lastname: Stass
mesh_terms: D015152:Blotting, Northern; D015139:Blotting, Southern; D002352:Carrier Proteins / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D018168:Receptors, Retinoic Acid; D014178:Translocation, Genetic / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D004273:DNA, Neoplasm; D012333:RNA, Messenger; D018168:Receptors, Retinoic Acid