caa a22 4500 397574401 CHVBK 20180308164851.0 cr unu---uuuuu 161202e199609 xx s 000 0 eng 10.1093/hmg/5.9.1333 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.9.1333 The t(X;1)(p11.2;q21.2) Translocation in Papillary Renal Cell Carcinoma Fuses a Novel Gene PRCC to the TFE3 Transcription Factor Gene [Elektronische Daten] [Sanjiv K. Sidhar, Jeremy Clark, Sandra Gill, Rifat Hamoudi, A. Jayne Crew, Rhian Gwilliam, Mark Ross, W. Marston Linehan, Sandra Birdsall, Janet Shipley, Colin S. Cooper] The specific chromosomal translocation t(X;1)(p11.2; q21.2) has been observed in human papillary renal cell carcinomas. In this study we demonstrated that this translocation results in the fusion of a novel gene designated PRCC at 1q21.2 to the TFE3 gene at Xp11.2. TFE3 encodes a member of the basic helix-loop-helix (bHLH) family of transcription factors originally identified by its ability to bind to µE3 elements in the immunoglobin heavy chain intronic enhancer. The translocation is predicted to result in the fusion of the N-terminal region of the PRCC protein, which includes a proline-rich domain, to the entire TFE3 protein. Notably the generation of the chimaeric PRCC-TFE3 gene appears to be accompanied by complete loss of normal TFE3 transcripts. This work establishes that the disruption of transcriptional control by chromosomal translocation is important in the development of kidney carcinoma in addition to its previously established role in the aetiology of sarcomas and leukaemias. © 1996 Oxford University Press Sidhar Sanjiv K. Molecular Carcinogenesis Section, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut Clark Jeremy Molecular Carcinogenesis Section, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut Gill Sandra Molecular Carcinogenesis Section, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut Hamoudi Rifat Cancer Gene Cloning Laboratory, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut Crew A. Jayne Molecular Carcinogenesis Section, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut Gwilliam Rhian Sanger Centre, Hinxton Hall, Cambridge, CB10 1RQ, UK aut Ross Mark Sanger Centre, Hinxton Hall, Cambridge, CB10 1RQ, UK aut Linehan W. Marston Urologic Oncology Section, National Cancer Institute, Bethesda, MD 20892, USA aut Birdsall Sandra Cancer Gene Cloning Laboratory, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut Shipley Janet Cancer Gene Cloning Laboratory, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut Cooper Colin S. Molecular Carcinogenesis Section, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut Human Molecular Genetics Oxford University Press 5/9(1996-09), 1333-1338 0964-6906 5:9<1333 1996 5 hmg https://doi.org/10.1093/hmg/5.9.1333 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.9.1333 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sidhar Sanjiv K. Molecular Carcinogenesis Section, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut NATIONALLICENCE 700 1- Clark Jeremy Molecular Carcinogenesis Section, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut NATIONALLICENCE 700 1- Gill Sandra Molecular Carcinogenesis Section, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut NATIONALLICENCE 700 1- Hamoudi Rifat Cancer Gene Cloning Laboratory, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut NATIONALLICENCE 700 1- Crew A. Jayne Molecular Carcinogenesis Section, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut NATIONALLICENCE 700 1- Gwilliam Rhian Sanger Centre, Hinxton Hall, Cambridge, CB10 1RQ, UK aut NATIONALLICENCE 700 1- Ross Mark Sanger Centre, Hinxton Hall, Cambridge, CB10 1RQ, UK aut NATIONALLICENCE 700 1- Linehan W. Marston Urologic Oncology Section, National Cancer Institute, Bethesda, MD 20892, USA aut NATIONALLICENCE 700 1- Birdsall Sandra Cancer Gene Cloning Laboratory, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut NATIONALLICENCE 700 1- Shipley Janet Cancer Gene Cloning Laboratory, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut NATIONALLICENCE 700 1- Cooper Colin S. Molecular Carcinogenesis Section, Institute of Cancer Research, Haddow Laboratories, Belmont, Sutton, Surrey, SM2 5NG, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/9(1996-09), 1333-1338 0964-6906 5:9<1333 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford