title: Activation of a novel gene in 3q21 and identification of intergenic fusion transcripts with ecotropic viral insertion site I in leukemia.
abstract: We have identified a novel gene, GR6, located within the leukemia breakpoint region of 3q21, that is normally expressed in early fetal development but not in adult peripheral blood. GR6 is activated in the UCSD-AML1 cell line and in a leukemic sample, both of which carry a t(3;3)(q21;q26). In UCSD-AML1, we have also identified fusion transcripts between the ecotropic viral insertion site I (EVI1) gene in 3q26 and GR6 and between EVI1 and Ribophorin I that maps 30 kb telomeric to GR6 in 3q21. All fusions splice the 5' ends of the 3q21 genes into exon 2 of the EVI1 gene, an event that is similar to the normal intergenic splicing of MDS1-EVI1 and to those previously documented in leukemias with t(3;21) and t(3;12), in which acute myelogenous leukemia 1-EVI1 fusions and ETV6-EVI1 fusions, respectively, occur. The Ribophorin I-EVI1 fusion in particular may be a common occurrence in t(3;3).
authors.affiliation: Eleanor Roosevelt Institute, Denver, Colorado 80206, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Pekarsky
authors.forename: A
authors.initials: A
authors.lastname: Rynditch
authors.forename: R
authors.initials: R
authors.lastname: Wieser
authors.forename: C
authors.initials: C
authors.lastname: Fonatsch
authors.forename: K
authors.initials: K
authors.lastname: Gardiner
mesh_terms: D000328:Adult; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D001798:Blood Proteins / Q000235:genetics*; D007446:Chromosome Inversion; D002893:Chromosomes, Human, Pair 3; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005326:Fetal Proteins; D015870:Gene Expression; D005796:Genes; D006801:Humans; D007438:Introns; D007938:Leukemia / Q000235:genetics* / Q000821:virology*; D008214:Lymphocytes / Q000502:physiology; D000074008:MDS1 and EVI1 Complex Locus Protein; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D015513:Oncogene Proteins; D011518:Proto-Oncogene Proteins; D011519:Proto-Oncogenes; D012333:RNA, Messenger / Q000235:genetics; D012334:RNA, Neoplasm / Q000235:genetics; D011993:Recombinant Fusion Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic; D016662:Virus Integration
chemical_list: D001798:Blood Proteins; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D005326:Fetal Proteins; C108385:LINC01565 protein, human; D000074008:MDS1 and EVI1 Complex Locus Protein; C063575:MECOM protein, human; D008565:Membrane Proteins; D015513:Oncogene Proteins; D011518:Proto-Oncogene Proteins; D012333:RNA, Messenger; D012334:RNA, Neoplasm; C493728:RUNX1 protein, human; D011993:Recombinant Fusion Proteins; D014157:Transcription Factors; C034241:ribophorin