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Gene Review

Pax1  -  paired box 1

Mus musculus

Synonyms: Paired box protein Pax-1, Pax-1, hbs, hunchback, un, ...
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Disease relevance of Pax1

  • In Mfh1/Pax1 double mutants, dorsomedial structures of the vertebrae are missing, resulting in extreme spina bifida accompanied by subcutaneous myelomeningocoele, and the vertebral bodies and intervertebral discs are missing [1].
  • Using the human PDGFRalpha promoter linked to a luciferase reporter, we show in the present paper that Pax1 acts as a transcriptional activator of the PDGFRalpha gene in differentiated Tera-2 human embryonal carcinoma cells [2].
  • Surprisingly, Pax1 mutant proteins appear to have opposing transcriptional activities in undifferentiated Tera-2 cells as well as in the U-2 OS osteosarcoma cell line [2].
  • Pax1/E2a double-mutant mice develop non-lethal neural tube defects that resemble human malformations [3].
  • The scoliosis (sco) mouse: a new allele of Pax1 [4].

High impact information on Pax1

  • The tendon progenitors are induced at the sclerotome's edge, at the expense of skeletogenic Pax1 positive cells and in response to FGF signaling in the adjacent myotome [5].
  • Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice [6].
  • The murine paired box gene Pax-1 has been associated with the mouse developmental mutant undulated (un), which exhibits malformations in the vertebral column [7].
  • In un mice, a point mutation leading to a Gly-Ser exchange in a conserved part of the paired domain of Pax-1 is present [7].
  • We localized the Pax 1 gene on chromosome 2 between beta 2-microglobulin and the agouti locus to an area where un maps [8].

Chemical compound and disease context of Pax1


Biological context of Pax1


Anatomical context of Pax1

  • Pax1 is expressed normally in kkt embryos and in the thymus of mature animals, and there is no mutation in its coding sequence [10].
  • Remarkably, Nkx2-2 is ectopically activated in the sclerotome and limb buds of Pax1(Un-s) embryos, both of which normally express Pax1 [13].
  • The paraxial mesoderm shows evidence of ventralisation, with increased expression of the sclerotomal marker Pax1, and diminished expression of the dermomyotomal marker Pax3 [14].
  • We have previously shown that the paired-box transcription factors Pax1 and Pax9 synergistically act in the proper formation of the vertebral column [15].
  • In contrast, notochord is required to induce Pax1 in competent sclerotomes [16].

Associations of Pax1 with chemical compounds

  • In addition, the SFFV isolates encode nonidentical 55,000-mol wt env gene-related proteins that can be distinguished by analysis of their methionine-containing tryptic peptides [17].
  • Inhibition curves parallel with the standard were, however, obtained on dissociation of the high mol. wt. protein complex with sodium dodecyl sulfate [18].
  • The 116,000-mol wt protein was detected as a triplet on protein blots until 13 days after estrogen withdrawal, when diminution in the intensity of the highest mol wt triplet protein was noted [19].
  • Furthermore, ASSAM immunoreactivity appeared in the low mol wt proteins (below 10,000 daltons) of apo HDL separated in the buffer containing 8 M urea through Sephadex G-200 [20].
  • Treatment of Ss with C1 cleaves a 7,000-8,000-mol wt fragment from the alpha-chain [21].

Physical interactions of Pax1

  • The Sd gene is known to interact with undulated (un), a sclerotome mutant [22].

Regulatory relationships of Pax1


Other interactions of Pax1

  • In contrast, the medial sclerotomal marker Pax1 is expressed normally in mutant embryos, arguing that Pax3 is not required for development of the medial sclerotome [24].
  • In contrast, Pax1 expression in all pharyngeal pouches requires both Eya1 and Six1 function [25].
  • Taken together, we propose that a combination of a loss-of-function mutation of Pax1 and a gain-of-function mutation of Nkx2-2 is the molecular basis of the Pax1(Un-s) mutation [13].
  • It is therefore apparent that these two mutations do not fully complement each other, and we propose that a gene in the kkt locus possesses a unique role that functions in concert with Pax1 during skeletal development [10].
  • Nevertheless, downstream events of the Pax1/Pax9 action and their target genes remain to be elucidated [15].

Analytical, diagnostic and therapeutic context of Pax1

  • RNA in situ hybridization for the transcription factors Hoxa3 and Pax1 was used to investigate the basis of this defect [26].
  • Using Sephadex G-200 gel chromatography, SASSAM was eluted as a high mol wt form of approximately 200,000 daltons [20].
  • The active factor(s) sedimented at approximately 7S on sucrose gradient centrifugation and eluted from 4B Sepharose in the region of 170,000 mol wt proteins [27].
  • Both sets of antibodies labeled a 71,000 mol. wt protein in Western blots of synaptic membranes obtained from either rat or bovine brain, an indication of homology between these proteins [28].
  • Peptide mapping of individual pituitary proteins within the gel after separation by electrophoresis in NaDodSO4-polyacrylamide gels has revealed a high-molecular-weight (mol wt) protein whose fingerprint is similar to that of prolactin (PRL) [29].


  1. Notochord-dependent expression of MFH1 and PAX1 cooperates to maintain the proliferation of sclerotome cells during the vertebral column development. Furumoto, T.A., Miura, N., Akasaka, T., Mizutani-Koseki, Y., Sudo, H., Fukuda, K., Maekawa, M., Yuasa, S., Fu, Y., Moriya, H., Taniguchi, M., Imai, K., Dahl, E., Balling, R., Pavlova, M., Gossler, A., Koseki, H. Dev. Biol. (1999) [Pubmed]
  2. Altered regulation of platelet-derived growth factor receptor-alpha gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins. Joosten, P.H., Hol, F.A., van Beersum, S.E., Peters, H., Hamel, B.C., Afink, G.B., van Zoelen, E.J., Mariman, E.C. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  3. Pax1/E2a double-mutant mice develop non-lethal neural tube defects that resemble human malformations. Joosten, P.H., van Zoelen, E.J., Murre, C. Transgenic Res. (2005) [Pubmed]
  4. The scoliosis (sco) mouse: a new allele of Pax1. Adham, I.M., Gille, M., Gamel, A.J., Reis, A., Dressel, R., Steding, G., Brand-Saberi, B., Engel, W. Cytogenet. Genome Res. (2005) [Pubmed]
  5. A somitic compartment of tendon progenitors. Brent, A.E., Schweitzer, R., Tabin, C.J. Cell (2003) [Pubmed]
  6. Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice. Helwig, U., Imai, K., Schmahl, W., Thomas, B.E., Varnum, D.S., Nadeau, J.H., Balling, R. Nat. Genet. (1995) [Pubmed]
  7. The molecular basis of the undulated/Pax-1 mutation. Chalepakis, G., Fritsch, R., Fickenscher, H., Deutsch, U., Goulding, M., Gruss, P. Cell (1991) [Pubmed]
  8. undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1. Balling, R., Deutsch, U., Gruss, P. Cell (1988) [Pubmed]
  9. Estrogen deficiency, obesity, and skeletal abnormalities in follicle-stimulating hormone receptor knockout (FORKO) female mice. Danilovich, N., Babu, P.S., Xing, W., Gerdes, M., Krishnamurthy, H., Sairam, M.R. Endocrinology (2000) [Pubmed]
  10. Characterization of a novel insertional mouse mutation, kkt: A closely linked modifier of Pax1. Bialek, P., Chan, C.T., Yee, S.P. Dev. Biol. (2000) [Pubmed]
  11. Cooperation of Hoxa5 and Pax1 genes during formation of the pectoral girdle. Aubin, J., Lemieux, M., Moreau, J., Lapointe, J., Jeannotte, L. Dev. Biol. (2002) [Pubmed]
  12. Hoxa3 and pax1 regulate epithelial cell death and proliferation during thymus and parathyroid organogenesis. Su, D., Ellis, S., Napier, A., Lee, K., Manley, N.R. Dev. Biol. (2001) [Pubmed]
  13. Undulated short-tail deletion mutation in the mouse ablates Pax1 and leads to ectopic activation of neighboring Nkx2-2 in domains that normally express Pax1. Kokubu, C., Wilm, B., Kokubu, T., Wahl, M., Rodrigo, I., Sakai, N., Santagati, F., Hayashizaki, Y., Suzuki, M., Yamamura, K., Abe, K., Imai, K. Genetics (2003) [Pubmed]
  14. Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects. Greene, N.D., Gerrelli, D., Van Straaten, H.W., Copp, A.J. Mech. Dev. (1998) [Pubmed]
  15. Pax1 and Pax9 activate Bapx1 to induce chondrogenic differentiation in the sclerotome. Rodrigo, I., Hill, R.E., Balling, R., Münsterberg, A., Imai, K. Development (2003) [Pubmed]
  16. Expression of avian Pax1 and Pax9 is intrinsically regulated in the pharyngeal endoderm, but depends on environmental influences in the paraxial mesoderm. Müller, T.S., Ebensperger, C., Neubüser, A., Koseki, H., Balling, R., Christ, B., Wilting, J. Dev. Biol. (1996) [Pubmed]
  17. Anemia- and polycythemia-inducing isolates of Friend spleen focus-forming virus. Biological and molecular evidence for two distinct viral genomes. MacDonald, M.E., Reynolds, F.H., Van de Ven, W.J., Stephenson, J.R., Mak, T.W., Bernstein, A. J. Exp. Med. (1980) [Pubmed]
  18. Radioimmunoassay determinations of murine beta 2-microglobulin and an H-2 antigen-like serum component. Kvist, S., Peterson, P.A. Eur. J. Immunol. (1979) [Pubmed]
  19. Progesterone receptor regulation by 17 beta-estradiol in human endometrial carcinoma grown in nude mice. Clarke, C.L., Feil, P.D., Satyaswaroop, P.G. Endocrinology (1987) [Pubmed]
  20. Isolation and characterization of senile amyloid--related antigenic substance (SASSAM) from mouse serum. Apo SASSAM is a low molecular weight apoprotein of high density lipoprotein. Higuchi, K., Matsumura, A., Hashimoto, K., Honma, A., Takeshita, S., Hosokawa, M., Yasuhira, K., Takeda, T. J. Exp. Med. (1983) [Pubmed]
  21. Structural and functional differences between the H-2 controlled Ss and Slp proteins. Ferreira, A., Nussenzweig, V., Gigli, I. J. Exp. Med. (1978) [Pubmed]
  22. A role for Pax-1 as a mediator of notochordal signals during the dorsoventral specification of vertebrae. Koseki, H., Wallin, J., Wilting, J., Mizutani, Y., Kispert, A., Ebensperger, C., Herrmann, B.G., Christ, B., Balling, R. Development (1993) [Pubmed]
  23. Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite. McMahon, J.A., Takada, S., Zimmerman, L.B., Fan, C.M., Harland, R.M., McMahon, A.P. Genes Dev. (1998) [Pubmed]
  24. Rib truncations and fusions in the Sp2H mouse reveal a role for Pax3 in specification of the ventro-lateral and posterior parts of the somite. Henderson, D.J., Conway, S.J., Copp, A.J. Dev. Biol. (1999) [Pubmed]
  25. Patterning of the third pharyngeal pouch into thymus/parathyroid by Six and Eya1. Zou, D., Silvius, D., Davenport, J., Grifone, R., Maire, P., Xu, P.X. Dev. Biol. (2006) [Pubmed]
  26. Retinoic acid-induced thymic abnormalities in the mouse are associated with altered pharyngeal morphology, thymocyte maturation defects, and altered expression of Hoxa3 and Pax1. Mulder, G.B., Manley, N., Maggio-Price, L. Teratology (1998) [Pubmed]
  27. Proteins from morphologically differentiated neuroblastoma cells promote tubulin polymerization. Seeds, N.W., Maccioni, R.B. J. Cell Biol. (1978) [Pubmed]
  28. Isolation of glutamate-binding proteins from rat and bovine brain synaptic membranes and immunochemical and immunocytochemical characterization. Wang, H., Kumar, K.N., Michaelis, E.K. Neuroscience (1992) [Pubmed]
  29. Identification and partial characterization of a 25K protein structurally similar to prolactin. Sinha, Y.N., Gilligan, T.A. Proc. Soc. Exp. Biol. Med. (1985) [Pubmed]
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