title: Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma.
abstract: We demonstrate that the cytogenetically defined translocation t(X;1)(p11.2;p34) observed in papillary renal cell carcinomas results in the fusion of the splicing factor gene PSF located at 1p34 to the TFE3 helix-loop-helix transcription factor gene at Xp11.2. In addition we define an X chromosome inversion inv(X)(p11.2;q12) that results in the fusion of the NonO (p54nrb) gene to TFE3. NonO (p54nrb), the human homologue of the Drosophila gene NonAdiss which controls the male courtship song, is closely related to PSF and also believed to be involved in RNA splicing. In each case the rearrangement results in the fusion of almost the entire splicing factor protein to the TFE3 DNA-binding domain. These observations suggest the possibility of intriguing links between the processes of RNA splicing, DNA transcription and oncogenesis.
authors.affiliation: Section of Molecular Carcinogenesis, Institute of Cancer Research, Haddow Laboratories, Sutton, Surrey, UK.
authors.forename: J
authors.initials: J
authors.lastname: Clark
authors.forename: Y J
authors.initials: YJ
authors.lastname: Lu
authors.forename: S K
authors.initials: SK
authors.lastname: Sidhar
authors.forename: C
authors.initials: C
authors.lastname: Parker
authors.forename: S
authors.initials: S
authors.lastname: Gill
authors.forename: D
authors.initials: D
authors.lastname: Smedley
authors.forename: R
authors.initials: R
authors.lastname: Hamoudi
authors.forename: W M
authors.initials: WM
authors.lastname: Linehan
authors.forename: J
authors.initials: J
authors.lastname: Shipley
authors.forename: C S
authors.initials: CS
authors.lastname: Cooper
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D019677:Artificial Gene Fusion; D001483:Base Sequence; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D015139:Blotting, Southern; D002291:Carcinoma, Papillary / Q000235:genetics* / Q000378:metabolism; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000378:metabolism; D007446:Chromosome Inversion; D002878:Chromosomes, Human, Pair 1; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D018257:Helix-Loop-Helix Motifs / Q000235:genetics; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D034521:Nuclear Matrix-Associated Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D050810:Octamer Transcription Factors; D000072670:PTB-Associated Splicing Factor; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D016601:RNA-Binding Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014158:Transcription, Genetic; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured; D014960:X Chromosome
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D004268:DNA-Binding Proteins; C083214:NONO protein, human; D034521:Nuclear Matrix-Associated Proteins; D009687:Nuclear Proteins; D050810:Octamer Transcription Factors; D000072670:PTB-Associated Splicing Factor; D016601:RNA-Binding Proteins; C069203:TFE3 protein, human; D014157:Transcription Factors