title: Identification of a potential role for POU2AF1 and BTG4 in the deletion of 11q23 in chronic lymphocytic leukemia.
abstract: Deletions of 11q in chronic lymphocytic leukemia (CLL) are usually associated with progressive disease and poor prognosis. A novel translocation within the previously identified 11q minimal region has been defined in a patient with CLL. The breakpoint is between genes POU2AF1 and BTG4. POU2AF1 is a B-cell-specific transcriptional coactivator, and BTG4 is a member of the BTG family of negative regulators of the cell cycle, making both of them good candidate genes for the pathogenesis of 11q- CLL. POU2AF1 was observed to be differentially expressed in the cells of patients with CLL compared to its expression in normal B cells in the absence of mutations. This may reflect ongoing stimulation and active accessory signaling in CLL cells. BTG4 could contribute to CLL pathogenesis following inactivation by haploinsufficiency.
authors.affiliation: Department of Experimental Haematology, ICMS, Barts & The London, Queen Mary School of Medicine, London, United Kingdom.
authors.forename: Rebecca L
authors.initials: RL
authors.lastname: Auer
authors.forename: Jane
authors.initials: J
authors.lastname: Starczynski
authors.forename: Suzanne
authors.initials: S
authors.lastname: McElwaine
authors.forename: Francesco
authors.initials: F
authors.lastname: Bertoni
authors.forename: Adrian C
authors.initials: AC
authors.lastname: Newland
authors.forename: Chris D
authors.initials: CD
authors.lastname: Fegan
authors.forename: Finbarr E
authors.initials: FE
authors.lastname: Cotter
mesh_terms: D001483:Base Sequence; D018797:Cell Cycle Proteins / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D003001:Cloning, Molecular; D016384:Consensus Sequence; D017931:DNA Primers; D004273:DNA, Neoplasm / Q000097:blood / Q000235:genetics* / Q000302:isolation & purification; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D008969:Molecular Sequence Data; D050811:Octamer Transcription Factor-1; D016133:Polymerase Chain Reaction; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C415579:BTG4 protein, human; D018797:Cell Cycle Proteins; D017931:DNA Primers; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D007143:Immunoglobulin Heavy Chains; D050811:Octamer Transcription Factor-1; C494165:POU2F1 protein, human; D012333:RNA, Messenger; D014157:Transcription Factors