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Gene Review

PAX6  -  paired box 6

Gallus gallus

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Disease relevance of PAX6


High impact information on PAX6

  • In response to acute damage, numerous Müller glia re-entered the cell cycle, and shortly thereafter, expressed CASH-1, Pax6 and Chx10, transcription factors expressed by embryonic retinal progenitors [2].
  • DC5 contains PAX6 and SOX2 binding sites, and its activity depends on the cooperative binding of these two transcription factors [3].
  • Newly induced oligodendrocytes expressed Nkx2.2 but not Pax6, correlating with the in vivo observation [4].
  • In addition to activating expression of RPE-specific genes, the extraocular mesenchyme inhibits the expression of the neural retina-specific transcription factor Chx10 and downregulates the eye-specific transcription factors Pax6 and Optx2 [5].
  • Activation of Pax6 depends on somitogenesis in the chick embryo cervical spinal cord [6].

Biological context of PAX6


Anatomical context of PAX6

  • In photoreceptors, the myoid portion of the inner segment showed PAX6 immunostaining, but the ellipsoid portion and the outer segment did not [10].
  • The most intense PAX6 immunostaining was found in the ganglion cell and inner nuclear layers, and in lower amounts in the optic nerve fiber, the inner plexiform and the photoreceptor layers [10].
  • PAX6 immunostaining was mainly localized in nuclear heterochromatin of the ganglion cell and inner nuclear layers whereas in the outer nuclear layer, PAX6 immunostaining was only observed in the intercellular space and the cytoplasm [10].
  • Retina regeneration in the chick embryo is not induced by spontaneous Mitf downregulation but requires FGF/FGFR/MEK/Erk dependent upregulation of Pax6 [8].
  • PURPOSE: To elucidate the early cellular events that take place during induction of retina regeneration in the embryonic chick, focusing on the relationship between fibroblast growth factor (FGF) signaling and the regulation of Pax6 and Mitf [8].

Associations of PAX6 with chemical compounds


Other interactions of PAX6

  • In particular, PAX6 and PAX7 are expressed in restricted regions in the CNS during early stages [14].
  • Retroviral constructs for paired box 6 (Pax6), MEK, and microphthalmia (Mitf) were also used in overexpression studies [8].
  • Immunohistochemistry was used to examine pErk, Pax6, Mitf, and melanosomal matrix protein 115 (MMP115) immunoreactivity and bromodeoxyuridine (BrdU) incorporation at different time points after removing the retina [8].
  • We found that primary cultures of chicken embryonic RGCs express such RP markers as transcription factors Pax6 and Brn3, photopigment melanopsin, and G-protein q but not markers for ciliary photoreceptors (alpha-transducin and Crx) [15].

Analytical, diagnostic and therapeutic context of PAX6

  • Frozen sections were immunohistochemically stained with monoclonal antibody to chick Pax6 (amino acids 1-223) [16].


  1. Early identification of retinal subtypes in the developing, pre-laminated chick retina using the transcription factors Prox1, Lim1, Ap2alpha, Pax6, Isl1, Isl2, Lim3 and Chx10. Edqvist, P.H., Myers, S.M., Hallböök, F. European journal of histochemistry : EJH. (2006) [Pubmed]
  2. Müller glia are a potential source of neural regeneration in the postnatal chicken retina. Fischer, A.J., Reh, T.A. Nat. Neurosci. (2001) [Pubmed]
  3. Functional analysis of the chicken delta1-crystallin enhancer activity in Drosophila reveals remarkable evolutionary conservation between chicken and fly. Blanco, J., Girard, F., Kamachi, Y., Kondoh, H., Gehring, W.J. Development (2005) [Pubmed]
  4. Distinct sites of origin of oligodendrocytes and somatic motoneurons in the chick spinal cord: oligodendrocytes arise from Nkx2.2-expressing progenitors by a Shh-dependent mechanism. Soula, C., Danesin, C., Kan, P., Grob, M., Poncet, C., Cochard, P. Development (2001) [Pubmed]
  5. Extraocular mesenchyme patterns the optic vesicle during early eye development in the embryonic chick. Fuhrmann, S., Levine, E.M., Reh, T.A. Development (2000) [Pubmed]
  6. Activation of Pax6 depends on somitogenesis in the chick embryo cervical spinal cord. Pituello, F., Medevielle, F., Foulquier, F., Duprat, A.M. Development (1999) [Pubmed]
  7. Effects of follistatin overexpression on cell differentiation in the chick embryo retina. Moreira, E.F., Adler, R. Dev. Biol. (2006) [Pubmed]
  8. Retina regeneration in the chick embryo is not induced by spontaneous Mitf downregulation but requires FGF/FGFR/MEK/Erk dependent upregulation of Pax6. Spence, J.R., Madhavan, M., Aycinena, J.C., Del Rio-Tsonis, K. Mol. Vis. (2007) [Pubmed]
  9. Pax6 Regulation in Retinal Cells by CCCTC Binding Factor. Li, T., Lu, Z., Lu, L. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  10. Ultramicroscopical immunolocalization of PAX6 in the adult chicken retina. Shin, D.H., Kwon, B.S., Chang, Y.P., Bae, S.R., Kim, J., Kim, J.W. Acta Histochem. (2003) [Pubmed]
  11. Heterogeneity of horizontal cells in the chicken retina. Fischer, A.J., Stanke, J.J., Aloisio, G., Hoy, H., Stell, W.K. J. Comp. Neurol. (2007) [Pubmed]
  12. Characterization of glucagon-expressing neurons in the chicken retina. Fischer, A.J., Skorupa, D., Schonberg, D.L., Walton, N.A. J. Comp. Neurol. (2006) [Pubmed]
  13. Gbx2 expression in the late embryonic chick dorsal thalamus. Martínez-de-la-Torre, M., Garda, A.L., Puelles, E., Puelles, L. Brain Res. Bull. (2002) [Pubmed]
  14. Distributions of PAX6 and PAX7 proteins suggest their involvement in both early and late phases of chick brain development. Kawakami, A., Kimura-Kawakami, M., Nomura, T., Fujisawa, H. Mech. Dev. (1997) [Pubmed]
  15. An invertebrate-like phototransduction cascade mediates light detection in the chicken retinal ganglion cells. Contin, M.A., Verra, D.M., Guido, M.E. FASEB J. (2006) [Pubmed]
  16. PAX6 expression in the developing human eye. Nishina, S., Kohsaka, S., Yamaguchi, Y., Handa, H., Kawakami, A., Fujisawa, H., Azuma, N. The British journal of ophthalmology. (1999) [Pubmed]
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