Chromosomal translocations involving paired box transcription factors in human cancer

International Journal of Biochemistry and Cell Biology

Volumn 29, Issue 12, 1997, Pages 1449-1461

  Barr, F G ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Cancer; Lymphoma; Paired box; PAX; Rhabdomyosarcoma; Transcription factor; Translocation

Indexed keywords

PAIRED BOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

B CELL LYMPHOMA; CANCER; CARCINOGENESIS; CHROMOSOME TRANSLOCATION; GENE MUTATION; HUMAN; NONHODGKIN LYMPHOMA; NONHUMAN; REVIEW; RHABDOMYOSARCOMA; TRANSCRIPTION REGULATION;

EID: 0031447388     PISSN: 13572725     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1357-2725(97)00095-2     Document Type: Review

References (73)

1. B. Adams P. Dorfer A. Aguzzi Z. Kozmik P. Urbanek I. Maurer-Fogy M. Busslinger Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis Genes Dev. 6 1992 1589 1697
2. E. Alava M. Ladanyi J. Rosai W.L. Gerald Detection of chimeric transipts in desmoplastic small round cell tumor and related developmental tumors by reverse transcriptase polymerase chain reaction Amer. J. Pathol. 147 1995 1584 1591
3. K. Arden M.J. Anderson F.G. Finckenstein S. Czekay W.K. Cavenee Detection of the t(2;13) chromosomal translocation in alveolar rhabdomyosarcoma using the reverse transcriptase-polymerase chain reaction Genes Chrom. Cancer 16 1996 254 260
4. C.T. Baldwin C.F. Hoth J.A. Amos E.O. da-Silva A Milunsky An exonic mutation in the HuP2 paired domain gene causes Wardenburg's syndrome Nature 355 1992 637 638
5. A. Barberis K. Widenhorn L. Vitelli M. Busslinger A novel B-cell lineage-specific transcription factor present at early but not late stages of differentiation Genes Der. 4 1990 849 859
6. F.G. Barr J. Chatten C.M. D'Cruz A.E. Wilson L.E. Nauta L.M. Nycum J.A. Biegel R.B. Womer Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas JAMA 27 1995 553 557
7. F.G. Barr N. Gahli J. Holick J.A. Biegel G. Rovers B.S. Emanuel Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma Nature Genet. 3 1993 113 114
8. F.G. Barr L.E. Nauta R.J. Davis B.W. Schäfer L.M. Nycum J.A. Biegel In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma Hum. WOl. Gowt. 5 1996 15 21
9. J.L. Bennicelli R.H. Edwards F.G. Barr Mechanism for transcriptional gain of function resulting from chromosomal translocation in alveolar rhabdomyosarcoma Proc. Natl. Acad. Sci. U.S.A. 93 1996 5455 5459
10. J.L. Bennicelli W.J. Fredericks R.B. Wilson F.J. R:tuscher III F.G. Barr Wild type PAX3 protein and the PAX3-FKHR fusion protein of alveolai rhabdomyosarcoma contain potent, structurally distinct transcriptional activation domains Oneogene 11 1995 119 130
11. M. Bernasconi A. Remppis W.J. Fredericks F.J. Rauseher B.W. Schäfer Induction of apoptosis in rhabdomyosarcoma cells through downregulation of PAX proteins Proc. Natl. Acad. Sci. U.S.A. 93 1996 13164 13169
12. J.A. Biegel R.S. Meek A.H. Parmiter K. Conard B.S. Emanuel Chromosomal tranlocation t(1;13)(p36,g14) in a case of rhabdomyosarcoma Genes Chrom. Cancer 3 1991 483 484
13. F. Bladt D. Riethmacher S. Isenmann A. Aguzzi C. Birchmeier Essential role for the c-met receptor in the migration of rnyogenic precursor cells into the limb bud Nature 376 1995 768 771
14. E. Bober T. Franz H.H. Arnold P. Gruss P. Tremblay Pax-3 is required for the development of limb muscles: a possible role for the migration or dertnomyotomal muscle progenitor cells DeVCIOPntent 1211 1994 603 612
15. M. Busslinger N. Klix P. Pfeffer P.O. Graninger Z. Kozmik Deregulation of PAX-5 by tr-,inslocation of the Ep enhancer of the I,gH locus adjacent to two alternative PAX-5 promoters in a diffuse large-cell lymphoma Proc. Nod. Acad. Sci. U.S.A. 93 1996 6129 6134
16. M. Busslinaer P. Urbanek The role of BSAP (Pax-5) in B-cell development Curr. Oh. Genet. Oct. 5 1995 595 601
17. G. Chalepakis M. Goulding A. Read T. Strachan P. Gruss Molecular basis of splotch and Waardenburg Pa.v-3 mutations Proc. Nail. Acad. Sci. U.S.A. 91 1994 3685 3689
18. G. Chalepakis F.S. Jones G.M. Edelman P. Gruss Pax-3 contains domains for transcription activation and transcription inhibition Proc. Nall. Acad. Sci. U.S.A. 91 1996 12745 12749
19. D.E. Clevidence D.G. Overdier W. Tao X. Qian L. Pani E. Lai R.H. Costa Identification of nine tissue-specific transcription factors of the hepatocyte nuclear factor 3;forkhead DNA-binding domain family Proc. Natl. Acad. Sci. U.S.A. 90 1993 3948 3952
20. T. Czerny G. Schaffner M. Bussfinger DNA sequence recognition by Pax proteins: bipartite structure of the paired domain and its binding site Gcncs Dcr. 7 1993 2048 2061
21. R.J. Davis J. Bennicelli R.A. Macina L.M. Nycum J.A. Biegel F.G. Barr Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma Hum. Mol. Genet. 4 1995 2355 2362
22. R.J. Davis C.M. D'Cruz M.A. Lovell J.A. Biegel F.G. Barr Fusion of PAX7 to FKHR by the variant t(1;13)(p36;gl4) translocation in alveolar rhabdomyosarcoma Cancer Res. 54 1994 2869 2872
23. P. Dorfler M. Busslinger C-terminal activating and inhibitory domains determine the transactivation potential of BSAP (Pax-5). Pax-2, and Pax-8 EMBO. J. 15 1996 1971 1982
24. E.C. Douglass S.T. Rowe M. Valentine D.M. Parham R. Berkow W.P. Bowman H.M. Maurer Variant translocations of chromosome 13 in, alveolar rhabdomyosareoma Genes Chrom. Cancer 3 1991 480 482
25. E.C. Douglass M. Valentine E. Etcubanas D. Parham B.L. Webber P.J. Houghton A.A. Green A specific chromosomal abnormality in rhabdomyosarcoma Cytogenet. Cell Genei. 45 1987 148 155
26. J.R. Downing A. Khandekar S.A. Shurtleff D.R. Head D.M. Parham B.L. Webber A.S. Pappo M.G. Hulshof W.P. Conn D.N. Shapiro Multiplex RT-PCR assay for the differential diagnosis of alveolar rhabdomyosarcoma and Ewing's sarcoma Amer. J. Pathol. 146 1995 626 634
27. 2H) , a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3 Cell 67 1991 767 774
28. J.A. Epstein P. Lam L. Jepeal R.M. Mass D.N. Shapiro Pax3 inhibits myogenic differentiation of cultured myoblast cells J. Biol. Chem. 270 1995 11719 11722
29. J.A. Epstein D.N. Shapiro J. Cheng P.Y.P. Lam R.M. Maas Pax3 modulates expression of the cMet receptor during limb muscle development Proc. Noil. Acad. Sci. U.S.A. 93 1996 4213 4218
30. T. Franz R. Kothary M.A.H. Surani Z. Halata M. Grim The Splotch mutation interferes with muscle development in the limbs Anal. Embrrol. 187 1993 153 160
31. W.J. Fredericks N. Galili S. Mukhopadhyay G. Rovera J. Bennicelli F.G. Barr F.J. Rauseher III The PAX3-FKHR fusion protein created by the 1(2;13) translocation in alveolar rhabdomyosarcoma is a more potent transcriptional activator than PAX3 Mol. Cell. Biol. 15 1995 1522 1535
32. N. Galili R.J. Davis W.J. Fredericks S. Mukhopadhyay F.J. Rauseher III B.S. Emanuel G. Rovera F.G. Barr Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma Nature Genet. 5 1993 230 235
33. M. Goulding A. Lumsden A.J. Paquette Regulation of Pct.-3 expression in the dermomyotome and its role in muscle development Development 120 1994 957 971
34. M.D. Goulding G. Chalepakis U. Deutsch J.R. Erselius P. Gruss Pax-3, a novel murine DNA binding protein expressed during early neurogenesis EMBO J. 10 1991 1135 1147
35. S. Heim F. Mitelman Cancer Crtogenciics 2nd edn. 1995 Wiley-Liss New York
36. S. Iida P.H. Rao P. Nallasivan H. Hibshoosh M. Butler D.C. Louie V. Dvomin H. Ohno R.S.K. Chaganti R. Dalla-Favera The t(9;14)(p13;g32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PA X-5 gene Blood 88 1996 4110 4117
37. B. Jostes C. Walther P. Gruss The murine paired box gene Pax7. is expressed specifically during the development of the nervous and muscular system Mech. Der. 33 1991 27 37
38. Z. Kozmik S. Wang P. Dorfler B. Adams M. Busslinger The promoter of the CD19 gene is a target for the B-cell-specific transcription factor BSAP Mol. Cell. Biol. 12 1992 2662 2672
39. E. Lai K.L. Clark S.K. Burley J.E. Darnell Hepatocyte nuclear factor 3/fork head or “winged helix” proteins: a family of transcription factors of diverse biologic function Proc. Natl. Acad. Sci. U.S.A. 90 1993 10421 10423
40. E. Lai V.R. Prezioso E. Smith O. Litvin R.H. Costa J.E. Darnell HNF-3A, a hepatocytcenriched transcription factor of novel structure is regulated transcriptionally Genes Der. 4 1990 1427 1436
41. P.Y.P. Lam J.E. Subfett I.S. Jeon D.N. Shapiro Oncogenic potential of the alveolar rhabdomyosarcoma PAX3; FKHR fusion protein Proc. Amer. Assoc. Cancer Res. 37 1996 577
42. A. Mansouri M. Hallonet P. Gross Pax genes and their roles in cell differentiation and development Curr. Op. Cell Biol. 8 1996 851 857
43. C.C. Maulbecker P. Gruss The oncogenic potential of Pax genes EMBO J. 12 1993 2361 2367
44. K. Offit N.Z. Parsa D. Filippa S.C. Jhanwar R.S.K. Chaganti t(9;14)(pI3;g32) denotes a subset of low-grade non-Hodgkin's lymphoma with plasmacytoid differentiation Blood 10 1992 2594 2599
45. K. Offit N.Z. Parsa S.C. Jhanwar D. Filippa M. Wachtel R.S.K. Chaganti Clusters of chromosome 9 aberrations are associated with clinico-pathologic subsets of non-Hodgkin's lymphoma Genes Chrom. Cancer 7 1993 1 7
46. H. Ohno T. Furukawa S. Fukuhara S.Q. Zong H. Kamesaki T.B. Shows M.M. Le Beau T.W. McKeithan T. Kawakami T. Horju Molecular analysis of a chromosomal translocation t(9J4)(p13;q32) in a diffuse large-cell lymphoma cell line expressing the Ki-I antigen Proc. Natl. Acad. Sci. U.S.A. 87 1990 628 632
47. P. Pellet R. Berger A. Bernheim J.C. Brouet A. Tsapis Molecular analysis of a t(9;14)(pl 1;g32) translocation occurring in a case of human alpha heavy chain disease Oncogcne 4 1989 653 657
48. R.B. Raney D.M. Hays M. Tefft T.J. Triche Rhabdomyosarcoma and the undifferentiated sarcomas P.A. Pizzo D.G. Poplack Principles and Practice of Pediatric Oncologi 1993 JB Lippincott Philadelphia. PA 769 794
49. J.R. Sawyer F.G. Crussi M. Kletzel Pericentric inversion (2)(pl5g35) in an alveolar rhabdomyosarcoma Cancer Genet. Criogcnet. 78 1994 214 218
50. B.W. Sclräfer T. Czerny M. Bernasconi M. Genini M. Busslinger Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes Nucleic Acids Rcs. 22 1994 4574 4582
51. B.A. Schäfer M.G. Mattei The human paired domain gene PAX7 (Hupl) maps to chromosome lp35l p36.2 Gewunits 17 1993 249 251
52. S. Scheidler W.J. Fredericks F.J. Rauseher F.G. Barr P.K. Vogt The hybrid PAX3- FKHR fusion protein of alveolar rhabdomyoscarcoma transforms fibroblasts in Culture Proc. Natl. Acid. Sci. U.S.A. 93 1996 9805 9809
53. D.N. Shapiro J.E. Sublett B. Li J.R. Downing C.W. Naeve Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma Cancer Res. 53 1993 5108 5112
54. D.N. Shapiro J.E. Sublett B. Li M.B. Valentine S.W. Morris M. Noll The gene for PAX7, a member of the paired-box-containing genes is localized on human chromosome arm Ip36 Genomics 17 1993 767 769
55. P. Stapleton A. Weight P. Urbanek Z. Kozmik M. Busslinger Chromosomal localization of seven PAX genes and cloning of a novel family member PAX-9 Nature Genet. 3 1993 292 298
56. T. Strachan A.P. Read PAX genes Curr. Oh. Gcn. Der. 4 1994 427 438
57. E.T. Stuart P. Gruss PAX: developmental control genes in cell growth and differentiation Cell Growth Dill. 7 1996 405 412
58. E.T. Stuart R. Haffner M. Oren P. Gruss Loss of p53 function through PAX-mediated transcriptional repression EAIBO J. 14 1995 5638 5645
59. J.E. Sublett L.S. Jeon D.N. Shapiro The alveolar rhabdomyosarcoma PAX3/FKHR fusion protein is a transcriptional activator Oncogene 11 1995 545 552
60. M. Tassabehji A.P. Read V.E. Newton R. Harris R. Bullings P. Gruss T. Strachan Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene Aaturc 355 1992 635 636
61. I. Treisman E. Harris C. Desplan The paired box encodes a second DNA-binding domain in the Paired homeodomain protein Genes Der. 5 1991 594 604
62. P. Tremblay P. Gruss PAX: genes for mice and men Pharnun. Thcr. 61 1994 205 226
63. M. Tsokos B.L. Webber D.M. Parham R.A. Wesley A. Miser J.S. Miser E. Etcubanas I. Kinsella J. Grayson E. Glatstein P.A. Pizzo T.J. Eaiche Rhabdomyosarcoma - a new classification scheme related to prognosis Arch. Pathol. Lab Med. 116 1992 847 855
64. C. Ture-Carol S. Lizard-Nicol E. Justrabo M. Favrot T. Philip E. Tabone Consistent chromosomal translocation in alveolar rhabdomyosarcoma Cancer. Genet. Cytogenet. 19 1986 361 362
65. D.A. Underhill K.J. Vogan P. Gros Analysis of the mouse Splotch-delayed mutation indicate, that the PAX-3 paired domain can influence homeodomain DNA-binding activity Proc. Natl. Acad. Sci. U.S.A. 92 1995 3692 3696
66. P. Urbanek Z.Q. Wang I. Fetka E.I. Wagner M. Busslinger Complete block of early B cell differentiation and altered patterning of the posterior midbrain in mice lacking Pax5/BSAP Cell 79 1994 901 912
67. Y. Wakatsuki M.F. Neurath E.E. Max W. Slrober The B cell-specific transcription factor BSAP regulates B cell proliferation J. Exp. Med. 179 1994 1099 1108
68. S. Wang-Wuu S. Soukup E. Ballard B. Gotwals B. Lampkin Chromosomal analysis of sixteen human rhabdomvosarcomas Cancer Res. 48 1988 983 987
69. J. Whang-Peng T. Knutsen K. Theil M.E. Hornwitz T. Triche Cytogenetic studies in subgroups of rhabdomyosarcoma Genes Chrom. Cancer 5 1992 299 310
70. J. Whang-Peng T.J. Triche T. Knutsen J. Miser S. Kaoshan S. Tsai M.A. Israel Cytogenctic characterization of selected small round cell tumours of childhood Cancer Genet. Cytogenet. 21 1986 185 208
71. B.A. Williams C.P. Ordahl Pa.x-3 expression in segmental mesoderm marks early stages in mtiogenic cell specification Development 120 1994 785 796
72. X.M. Yang K. Vogan P. Gros M. Park Expression of the met receptor tyrosine kinase in muscle progenitor cells in soanites and limbs is absent in Splotch mice Development 122 1996 2163 2171
73. P. Zwollo S. Desiderio Specific recognition of the 10, promoter by the B-lymphoid transcription factor b-cell-specific activator protein J. Biol. Chum. 269 1994 15310 15317