title: Molecular rearrangements of the MYL gene in acute promyelocytic leukemia (APL, M3) define a breakpoint cluster region as well as some molecular variants.
abstract: Genomic DNA probes generated from the retinoic acid receptor alpha (RARA) gene located on chromosome 17 and from the MYL gene located on chromosome 15 were used to study the chromosome 15 breakpoints resulting from the t(15; 17) translocation in 26 patients with acute promyelocytic leukemia (APL). In 20 out of 22 patients with a detectable MYL rearrangement, the breakpoints were clustered within a 4.4 kb segment designated MYLbcr. The two remaining patients exhibited a more 5' rearrangement at about 10 kb upstream of the MYLbcr region, implying the lack of at least one MYL gene exon in the resulting MYL-RARA fusion gene. The variation of chromosome breakpoints within the MYL gene may explain size heterogeneity previously observed in some MYL-RARA fusion transcripts expressed in APL cells.
authors.affiliation: Shanghai Institute of Hematology, Shanghai Rui-Jin Hospital, Shanghai Second Medical University, China.
authors.forename: J H
authors.initials: JH
authors.lastname: Tong
authors.forename: S
authors.initials: S
authors.lastname: Dong
authors.forename: J P
authors.initials: JP
authors.lastname: Geng
authors.forename: W
authors.initials: W
authors.lastname: Huang
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Wang
authors.forename: G L
authors.initials: GL
authors.lastname: Sun
authors.forename: S J
authors.initials: SJ
authors.lastname: Chen
authors.forename: Z
authors.initials: Z
authors.lastname: Chen
authors.forename: C J
authors.initials: CJ
authors.lastname: Larsen
authors.forename: R
authors.initials: R
authors.lastname: Berger
mesh_terms: D015139:Blotting, Southern; D002352:Carrier Proteins / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D003001:Cloning, Molecular; D004273:DNA, Neoplasm / Q000235:genetics; D015321:Gene Rearrangement; D005796:Genes; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D018168:Receptors, Retinoic Acid; D015183:Restriction Mapping; D014178:Translocation, Genetic
chemical_list: D002352:Carrier Proteins; D004273:DNA, Neoplasm; D018168:Receptors, Retinoic Acid