title: Activation of EVI1 gene expression in human acute myelogenous leukemias by translocations spanning 300-400 kilobases on chromosome band 3q26.
abstract: Retroviral activation of Evi-1 gene expression is one of the most common transforming events in murine myeloid leukemias. To evaluate the role of the EVI1 gene in human acute myelogenous leukemia (AML), leukemic blasts or cell lines from 116 patients were examined. In eight patients the EVI1 gene was expressed and all but one had cytogenetically detectable translocations of chromosome 3q26 where the EVI1 gene has been localized. To identify breakpoints, a restriction map that spans 1700 kilobases (kb) of the EVI1 locus was developed by pulsed-field gel electrophoresis. In one case, t(3;3)(q21;q26), a rearrangement was localized to 170-330 kb 5' of the gene. In a second case, t(3;3)(q21;q26), there was a rearrangement 13 kb 5' of the gene. This rearrangement was cloned and shown to be due to the fusion of sequences from 3q21-22 with the EVI1 locus. In the third case, ins(3)-(q21q25q27), there was a rearrangement that mapped 150 kb downstream from the 5' end of the gene.
authors.affiliation: Department of Biochemistry, St. Jude Children's Research Hospital, Memphis, TN 38105.
authors.forename: K
authors.initials: K
authors.lastname: Morishita
authors.forename: E
authors.initials: E
authors.lastname: Parganas
authors.forename: C L
authors.initials: CL
authors.lastname: William
authors.forename: M H
authors.initials: MH
authors.lastname: Whittaker
authors.forename: H
authors.initials: H
authors.lastname: Drabkin
authors.forename: J
authors.initials: J
authors.lastname: Oval
authors.forename: R
authors.initials: R
authors.lastname: Taetle
authors.forename: M B
authors.initials: MB
authors.lastname: Valentine
authors.forename: J N
authors.initials: JN
authors.lastname: Ihle
mesh_terms: D001483:Base Sequence; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002893:Chromosomes, Human, Pair 3; D004273:DNA, Neoplasm / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D015870:Gene Expression; D015321:Gene Rearrangement; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D000074008:MDS1 and EVI1 Complex Locus Protein; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides / Q000737:chemistry; D011519:Proto-Oncogenes; D012333:RNA, Messenger / Q000235:genetics; D015183:Restriction Mapping; D014157:Transcription Factors; D014178:Translocation, Genetic; D016335:Zinc Fingers
chemical_list: D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D000074008:MDS1 and EVI1 Complex Locus Protein; C063575:MECOM protein, human; D009838:Oligodeoxyribonucleotides; D012333:RNA, Messenger; D014157:Transcription Factors