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Gene Review

PAX3  -  paired box 3

Homo sapiens

Synonyms: CDHS, HUP2, HuP2, Paired box protein Pax-3, WS1, ...
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Disease relevance of PAX3


Psychiatry related information on PAX3


High impact information on PAX3

  • Two recent papers provide compelling evidence that hair graying is due to incomplete melanocyte stem cell maintenance and identify Pax3 and Mitf as key molecules that help regulate the balance between melanocyte stem cell maintenance and differentiation [7].
  • We further show that PAX3 proteins associated with WS1 in either the paired domain or the homeodomain fail to recognize and transactivate the MITF promoter [1].
  • Depending on additional symptoms, WS is classified into four types: WS1, WS2, WS3 and WS4 [1].
  • WS type 1 is normally caused by mutations in PAX3 located at chromosome 2q35 and is distinguished clinically by minor facial malformations [8].
  • Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma [9].

Chemical compound and disease context of PAX3


Biological context of PAX3


Anatomical context of PAX3


Associations of PAX3 with chemical compounds

  • The NH2-terminal paired box and homeodomain DNA-binding domains of PAX3 are fused in frame to COOH-terminal regions of the chromosome 13-derived FKHR gene, a novel member of the forkhead DNA-binding domain family [22].
  • CONCLUSIONS: The results indicate that the RT-PCR assay is a reliable method for the detection of the PAX3-FKHR fusion transcript of alveolar RMS in formalin-fixed, paraffin-embedded tissue [23].
  • We validated proper expression, specific DNA binding, corepressor interaction, and nuclear localization for the KRAB-PAX3-HBD protein and showed it to be a 4-hydroxytamoxifen-dependent transcriptional repressor of transiently transfected and integrated PAX3 reporters in ARMS cells [24].
  • In addition, Pax3 transfectants having high PSA-NCAM show heterophilic adhesion involving polysialic acid to heparan sulfate proteoglycan and agrin [25].
  • The aims of this study were to examine whether Pax3 expression is decreased in the heart of E13 E15 and E21 rats exposed to nitrofen and if vitamin A reverts this effect [26].

Physical interactions of PAX3


Regulatory relationships of PAX3

  • Furthermore, we show that the BMP antagonist Noggin is expressed within the dorsomedial lip of the dermomyotome, where Pax3-expressing cells first initiate the expression of MyoD and Myf5 to give rise to myotomal cells in the medial somite [29].
  • Through this interaction hDaxx represses the transcriptional activity of Pax3 by approximately 80% [27].
  • In contrast, Pax3-negative cells in the grafted ectoderm are induced to express the epibranchial placode marker Pax2 and form neurons in the nodose ganglion that express the epibranchial neuron marker Phox2a on the same schedule as host nodose neurons [30].
  • We demonstrate here that Pax3/FKHR more potently induces a MET in SaOS-2 cells than Pax3 [31].

Other interactions of PAX3


Analytical, diagnostic and therapeutic context of PAX3


  1. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Watanabe, A., Takeda, K., Ploplis, B., Tachibana, M. Nat. Genet. (1998) [Pubmed]
  2. Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1. Wachtel, M., Dettling, M., Koscielniak, E., Stegmaier, S., Treuner, J., Simon-Klingenstein, K., Bühlmann, P., Niggli, F.K., Schäfer, B.W. Cancer Res. (2004) [Pubmed]
  3. Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression. Tomescu, O., Xia, S.J., Strezlecki, D., Bennicelli, J.L., Ginsberg, J., Pawel, B., Barr, F.G. Lab. Invest. (2004) [Pubmed]
  4. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Coyle, B., Coffey, R., Armour, J.A., Gausden, E., Hochberg, Z., Grossman, A., Britton, K., Pembrey, M., Reardon, W., Trembath, R. Nat. Genet. (1996) [Pubmed]
  5. Expression pattern of PAX3 and PAX6 genes during human embryogenesis. Terzić, J., Saraga-Babić, M. Int. J. Dev. Biol. (1999) [Pubmed]
  6. Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects. Shim, S.H., Wyandt, H.E., McDonald-McGinn, D.M., Zackai, E.Z., Milunsky, A. Clin. Genet. (2004) [Pubmed]
  7. Melanocyte stem cell maintenance and hair graying. Steingrímsson, E., Copeland, N.G., Jenkins, N.A. Cell (2005) [Pubmed]
  8. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Hughes, A.E., Newton, V.E., Liu, X.Z., Read, A.P. Nat. Genet. (1994) [Pubmed]
  9. Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Barr, F.G., Galili, N., Holick, J., Biegel, J.A., Rovera, G., Emanuel, B.S. Nat. Genet. (1993) [Pubmed]
  10. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Asher, J.H., Sommer, A., Morell, R., Friedman, T.B. Hum. Mutat. (1996) [Pubmed]
  11. Upstream CpG island methylation of the PAX3 gene in human rhabdomyosarcomas. Kurmasheva, R.T., Peterson, C.A., Parham, D.M., Chen, B., McDonald, R.E., Cooney, C.A. Pediatric blood & cancer. (2005) [Pubmed]
  12. PAX3/forkhead homolog in rhabdomyosarcoma oncoprotein activates glucose transporter 4 gene expression in vivo and in vitro. Armoni, M., Quon, M.J., Maor, G., Avigad, S., Shapiro, D.N., Harel, C., Esposito, D., Goshen, Y., Yaniv, I., Karnieli, E. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
  13. Analysis of select folate pathway genes, PAX3, and human T in a Midwestern neural tube defect population. Trembath, D., Sherbondy, A.L., Vandyke, D.C., Shaw, G.M., Todoroff, K., Lammer, E.J., Finnell, R.H., Marker, S., Lerner, G., Murray, J.C. Teratology (1999) [Pubmed]
  14. Transfection of melanoma cells with antisense PAX3 oligonucleotides additively complements cisplatin-induced cytotoxicity. He, S.J., Stevens, G., Braithwaite, A.W., Eccles, M.R. Mol. Cancer Ther. (2005) [Pubmed]
  15. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Bondurand, N., Pingault, V., Goerich, D.E., Lemort, N., Sock, E., Caignec, C.L., Wegner, M., Goossens, M. Hum. Mol. Genet. (2000) [Pubmed]
  16. Co-expression of alternatively spliced forms of PAX3, PAX7, PAX3-FKHR and PAX7-FKHR with distinct DNA binding and transactivation properties in rhabdomyosarcoma. Du, S., Lawrence, E.J., Strzelecki, D., Rajput, P., Xia, S.J., Gottesman, D.M., Barr, F.G. Int. J. Cancer (2005) [Pubmed]
  17. The folate metabolic enzyme ALDH1L1 is restricted to the midline of the early CNS, suggesting a role in human neural tube defects. Anthony, T.E., Heintz, N. J. Comp. Neurol. (2007) [Pubmed]
  18. Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. Lang, D., Chen, F., Milewski, R., Li, J., Lu, M.M., Epstein, J.A. J. Clin. Invest. (2000) [Pubmed]
  19. Pax3-FKHR knock-in mice show developmental aberrations but do not develop tumors. Lagutina, I., Conway, S.J., Sublett, J., Grosveld, G.C. Mol. Cell. Biol. (2002) [Pubmed]
  20. PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group. Sorensen, P.H., Lynch, J.C., Qualman, S.J., Tirabosco, R., Lim, J.F., Maurer, H.M., Bridge, J.A., Crist, W.M., Triche, T.J., Barr, F.G. J. Clin. Oncol. (2002) [Pubmed]
  21. The role of Pax3 and Pax7 in development and cancer. Mansouri, A. Critical reviews in oncogenesis. (1998) [Pubmed]
  22. The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3. Fredericks, W.J., Galili, N., Mukhopadhyay, S., Rovera, G., Bennicelli, J., Barr, F.G., Rauscher, F.J. Mol. Cell. Biol. (1995) [Pubmed]
  23. Detection of PAX3-FKHR and PAX7-FKHR fusion transcripts in rhabdomyosarcoma by reverse transcriptase-polymerase chain reaction using paraffin-embedded tissue. Chen, B.F., Chen, M.L., Liang, D.C., Huang, Y.W., Liu, H.C., Chen, S.H. Zhonghua Yi Xue Za Zhi (Taipei) (1999) [Pubmed]
  24. Hormone-dependent tumor regression in vivo by an inducible transcriptional repressor directed at the PAX3-FKHR oncogene. Ayyanathan, K., Fredericks, W.J., Berking, C., Herlyn, M., Balakrishnan, C., Gunther, E., Rauscher, F.J. Cancer Res. (2000) [Pubmed]
  25. Overexpression of murine Pax3 increases NCAM polysialylation in a human medulloblastoma cell line. Mayanil, C.S., George, D., Mania-Farnell, B., Bremer, C.L., McLone, D.G., Bremer, E.G. J. Biol. Chem. (2000) [Pubmed]
  26. Vitamin A improves Pax3 expression that is decreased in the heart of rats with experimental diaphragmatic hernia. Gonzalez-Reyes, S., Fernandez-Dumont, V., Calonge, W.M., Martinez, L., Tovar, J.A. J. Pediatr. Surg. (2006) [Pubmed]
  27. The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx. Hollenbach, A.D., Sublett, J.E., McPherson, C.J., Grosveld, G. EMBO J. (1999) [Pubmed]
  28. An engineered PAX3-KRAB transcriptional repressor inhibits the malignant phenotype of alveolar rhabdomyosarcoma cells harboring the endogenous PAX3-FKHR oncogene. Fredericks, W.J., Ayyanathan, K., Herlyn, M., Friedman, J.R., Rauscher, F.J. Mol. Cell. Biol. (2000) [Pubmed]
  29. Regulation of dorsal somitic cell fates: BMPs and Noggin control the timing and pattern of myogenic regulator expression. Reshef, R., Maroto, M., Lassar, A.B. Genes Dev. (1998) [Pubmed]
  30. Establishing neuronal identity in vertebrate neurogenic placodes. Baker, C.V., Bronner-Fraser, M. Development (2000) [Pubmed]
  31. Cell-type-specific regulation of distinct sets of gene targets by Pax3 and Pax3/FKHR. Begum, S., Emani, N., Cheung, A., Wilkins, O., Der, S., Hamel, P.A. Oncogene (2005) [Pubmed]
  32. Human FOX gene family (Review). Katoh, M., Katoh, M. Int. J. Oncol. (2004) [Pubmed]
  33. Transcriptional regulation of IGF-I receptor gene expression by the PAX3-FKHR oncoprotein. Ayalon, D., Glaser, T., Werner, H. Growth Horm. IGF Res. (2001) [Pubmed]
  34. CXCR4-SDF-1 signaling is active in rhabdomyosarcoma cells and regulates locomotion, chemotaxis, and adhesion. Libura, J., Drukala, J., Majka, M., Tomescu, O., Navenot, J.M., Kucia, M., Marquez, L., Peiper, S.C., Barr, F.G., Janowska-Wieczorek, A., Ratajczak, M.Z. Blood (2002) [Pubmed]
  35. Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. Lalwani, A.K., Brister, J.R., Fex, J., Grundfast, K.M., Ploplis, B., San Agustin, T.B., Wilcox, E.R. Am. J. Hum. Genet. (1995) [Pubmed]
  36. Genetic heterogeneity in the alveolar rhabdomyosarcoma subset without typical gene fusions. Barr, F.G., Qualman, S.J., Macris, M.H., Melnyk, N., Lawlor, E.R., Strzelecki, D.M., Triche, T.J., Bridge, J.A., Sorensen, P.H. Cancer Res. (2002) [Pubmed]
  37. Transcriptional modulation of the anti-apoptotic protein BCL-XL by the paired box transcription factors PAX3 and PAX3/FKHR. Margue, C.M., Bernasconi, M., Barr, F.G., Schäfer, B.W. Oncogene (2000) [Pubmed]
  38. Functional characterization of the human PAX3 gene regulatory region. Okladnova, O., Syagailo, Y.V., Tranitz, M., Riederer, P., Stöber, G., Mössner, R., Lesch, K.P. Genomics (1999) [Pubmed]
  39. Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma. Macina, R.A., Barr, F.G., Galili, N., Riethman, H.C. Genomics (1995) [Pubmed]
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