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Gene Review

PAX7  -  paired box 7

Homo sapiens

Synonyms: HUP1, HuP1, Hup1, PAX7B, Paired box protein Pax-7, ...
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Disease relevance of PAX7

  • Gain-of-function mutations creating fusion proteins consisting of PAX3 or PAX7 and another transcription factor of the forkhead family (FKHR) are associated with alveolar rhabdomyosarcomas [1].
  • PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells [2].
  • FOXO1 gene is fused to PAX3 or PAX7 genes in rhabdomyosarcoma [3].
  • Specifically, the gene ENO1 was amplified in six and the gene PAX7 in five out of 37 cases which included both biopsies and paraffin-embedded tissues of squamous cell lung carcinomas [4].
  • Here we provide a novel perspective by correlating metastasis with expression of PAX3, PAX7 and ephrin/Eph receptors as well as NCAMs, cell surface markers normally involved in migration and adhesion during development, and propose a role for PAX genes in the increased metastatic potential of these tumours [5].

High impact information on PAX7

  • PAX-1 and PAX-7 map to chromosomal regions containing previously assigned disease loci [6].
  • We show that the microalga Phaeodactylum tricornutum can be genetically engineered to thrive on exogenous glucose in the absence of light through the introduction of a gene encoding a glucose transporter (glut1 or hup1) [7].
  • The myogenic identity of precursor cells in the adult depends on Pax7, the orthologue of Pax3 which is required for early myogenesis; this finding is of major importance for muscle regeneration and the active field of stem cell research [8].
  • Resident progenitor cells defined by Pax3/Pax7 expression are formed initially, but they are progressively lost and virtually absent at embryonic day 14 [9].
  • Using physical mapping and cloning strategies, we determined that t(2;13) and t(1;13) rearrange PAX3 and PAX7, which encode members of the paired box transcription factor family, and juxtapose these genes with FKHR, which encodes a novel member of the fork head transcription factor family [10].

Biological context of PAX7

  • In our study, we investigated alternative splicing of the wild-type and fusion forms of PAX3 and PAX7 in alveolar and embryonal RMS and assessed the functional implications [11].
  • Our findings indicate that this t(1;13) rearranges PAX7 on chromosome 1 and fuses it to FKHR on chromosome 13 [12].
  • Deletion analysis showed that the transactivation domains of PAX7 and PAX7-FKHR are each more potent than either full-length protein, and resistance to cis-repression is responsible for the PAX7-FKHR gain of function [13].
  • Therefore, these translocations alter biological activity at the levels of protein function, gene expression, and subcellular localization with the cumulative outcome postulated to be aberrant regulation of PAX3/PAX7 target genes [14].
  • In one case, amplification of the PAX7 gene and 3'-and 5'-FKHR gene sequences was demonstrated by using interphase fluorescence in situ hybridization on tumor imprints [15].

Anatomical context of PAX7

  • This is corroborated by the detection of MET (c-met) expression, a marker for the myogenic satellite cell lineage, in all RMS samples expressing wild-type PAX7 [2].
  • Mice with a mutated Pax7 gene suffer from defects in cephalic neural crest derivatives only and indicate that both genes may functionally share some redundancy [1].
  • Pax3 and Pax7 are specifically expressed in the dorsal neural tube and the developing somite [1].
  • Cells of embryonal RMS, the other major histiotype of this tumor, were found to express either wild type PAX3 or PAX7 at elevated levels when compared with primary human myoblasts [16].
  • Transcription factors encoded by PAX3 and PAX7 are amongst the first expressed in the embryo, being principal regulators of neurogenic and myogenic progenitor cell specification and embryonic segmentation [5].

Associations of PAX7 with chemical compounds

  • Several molecules have been implicated in the regulation of satellite cell quiescence, activation and renewal, including the transcription factors Pax7, MyoD and Myf5, the cell-surface glycoprotein CD34, and the membrane lipid sphingomyelin [17].

Other interactions of PAX7


Analytical, diagnostic and therapeutic context of PAX7


  1. The role of Pax3 and Pax7 in development and cancer. Mansouri, A. Critical reviews in oncogenesis. (1998) [Pubmed]
  2. PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells. Tiffin, N., Williams, R.D., Shipley, J., Pritchard-Jones, K. Br. J. Cancer (2003) [Pubmed]
  3. Human FOX gene family (Review). Katoh, M., Katoh, M. Int. J. Oncol. (2004) [Pubmed]
  4. Gene amplification at chromosome 1pter-p33 including the genes PAX7 and ENO1 in squamous cell lung carcinoma. Rácz, A., Brass, N., Höfer, M., Sybrecht, G.W., Remberger, K., Meese, E.U. Int. J. Oncol. (2000) [Pubmed]
  5. Aberrant PAX3 and PAX7 expression. A link to the metastatic potential of embryonal rhabdomyosarcoma and cutaneous malignant melanoma? Blake, J., Ziman, M.R. Histol. Histopathol. (2003) [Pubmed]
  6. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. Stapleton, P., Weith, A., Urbánek, P., Kozmik, Z., Busslinger, M. Nat. Genet. (1993) [Pubmed]
  7. Trophic conversion of an obligate photoautotrophic organism through metabolic engineering. Zaslavskaia, L.A., Lippmeier, J.C., Shih, C., Ehrhardt, D., Grossman, A.R., Apt, K.E. Science (2001) [Pubmed]
  8. Skeletal muscle formation in vertebrates. Buckingham, M. Curr. Opin. Genet. Dev. (2001) [Pubmed]
  9. Premature myogenic differentiation and depletion of progenitor cells cause severe muscle hypotrophy in Delta1 mutants. Schuster-Gossler, K., Cordes, R., Gossler, A. Proc. Natl. Acad. Sci. U.S.A. (2007) [Pubmed]
  10. The role of chimeric paired box transcription factors in the pathogenesis of pediatric rhabdomysarcoma. Barr, F.G. Cancer Res. (1999) [Pubmed]
  11. 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]
  12. Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma. Davis, R.J., D'Cruz, C.M., Lovell, M.A., Biegel, J.A., Barr, F.G. Cancer Res. (1994) [Pubmed]
  13. PAX3 and PAX7 exhibit conserved cis-acting transcription repression domains and utilize a common gain of function mechanism in alveolar rhabdomyosarcoma. Bennicelli, J.L., Advani, S., Schäfer, B.W., Barr, F.G. Oncogene (1999) [Pubmed]
  14. Gene fusions involving PAX and FOX family members in alveolar rhabdomyosarcoma. Barr, F.G. Oncogene (2001) [Pubmed]
  15. Novel formation and amplification of the PAX7-FKHR fusion gene in a case of alveolar rhabdomyosarcoma. Weber-Hall, S., McManus, A., Anderson, J., Nojima, T., Abe, S., Pritchard-Jones, K., Shipley, J. Genes Chromosomes Cancer (1996) [Pubmed]
  16. Induction of apoptosis in rhabdomyosarcoma cells through down-regulation of PAX proteins. Bernasconi, M., Remppis, A., Fredericks, W.J., Rauscher, F.J., Schäfer, B.W. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  17. Satellite cell self-renewal. Collins, C.A. Current opinion in pharmacology. (2006) [Pubmed]
  18. 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]
  19. PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. Hol, F.A., Geurds, M.P., Chatkupt, S., Shugart, Y.Y., Balling, R., Schrander-Stumpel, C.T., Johnson, W.G., Hamel, B.C., Mariman, E.C. J. Med. Genet. (1996) [Pubmed]
  20. Cytogenetic and molecular findings related to rhabdomyosarcoma. An analysis of seven cases. Gil-Benso, R., López-Ginés, C., Carda, C., López-Guerrero, J.A., Ferrer, J., Pellín-Pérez, A., Llombart-Bosch, A. Cancer Genet. Cytogenet. (2003) [Pubmed]
  21. Satellite cells express distinct patterns of myogenic proteins in immature skeletal muscle. Schultz, E., Chamberlain, C., McCormick, K.M., Mozdziak, P.E. Dev. Dyn. (2006) [Pubmed]
  22. Use of a novel FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of alveolar rhabdomyosarcoma. Nishio, J., Althof, P.A., Bailey, J.M., Zhou, M., Neff, J.R., Barr, F.G., Parham, D.M., Teot, L., Qualman, S.J., Bridge, J.A. Lab. Invest. (2006) [Pubmed]
  23. Structural analysis of PAX7 rearrangements in alveolar rhabdomyosarcoma. Fitzgerald, J.C., Scherr, A.M., Barr, F.G. Cancer Genet. Cytogenet. (2000) [Pubmed]
  24. Myostatin short interfering hairpin RNA gene transfer increases skeletal muscle mass. Magee, T.R., Artaza, J.N., Ferrini, M.G., Vernet, D., Zuniga, F.I., Cantini, L., Reisz-Porszasz, S., Rajfer, J., Gonzalez-Cadavid, N.F. The journal of gene medicine. (2006) [Pubmed]
  25. Correlation between tectum formation and expression of two PAX family genes, PAX7 and PAX6, in avian brains. Nomura, T., Kawakami, A., Fujisawa, H. Dev. Growth Differ. (1998) [Pubmed]
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