AP-2alpha transcription factor is required for early morphogenesis of the lens vesicle

Dev Biol. 1999 Feb 1;206(1):46-62. doi: 10.1006/dbio.1998.9132.


AP-2 transcription factors are a family of retinoic acid-responsive genes, which are involved in complex morphogenetic processes. In the current study, we determine the requirement for AP-2alpha in early morphogenesis of the eye by examining the nature of the ocular defects in AP-2alpha null and chimeric mice. AP-2alpha null embryos exhibited ocular phenotypes ranging from a complete lack of eyes (anophthalmia) to defects in the developing lens involving a persistent adhesion of the lens to the overlying surface ectoderm. Two genes involved in lens development and differentiation, Pax6 and MIP26 were also misexpressed. AP-2alpha mutants also exhibited defects in the optic cup consisting of transdifferentiation of the dorsal retinal pigmented epithelium into neural retina and the absence of a defined ganglion cell layer. Newly generated chimeric embryos consisting of a population of AP-2alpha-/- and AP-2alpha+/+ cells exhibit ocular defects similar to those seen in the knockout embryos. Immunolocalization of AP-2 proteins (alpha, beta, and gamma) to the normal developing eye revealed both unique and overlapping expression patterns, with AP-2alpha expressed in a number of the ocular tissues that exhibited defects in the mutants, including the developing lens where AP-2alpha is uniquely expressed. Together these findings demonstrate a requirement for AP-2alpha in early morphogenesis of the eye.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Animals, Newborn / genetics
  • Aquaporins
  • Chimera / genetics
  • DNA-Binding Proteins / genetics*
  • Eye / cytology
  • Eye / embryology*
  • Eye Proteins / genetics
  • Gene Expression Regulation, Developmental / genetics
  • Histocytochemistry
  • Homeodomain Proteins*
  • Immunohistochemistry
  • Lens, Crystalline / cytology
  • Lens, Crystalline / growth & development*
  • Membrane Glycoproteins*
  • Mice
  • Mice, Knockout
  • Morphogenesis / genetics
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Phenotype
  • Repressor Proteins
  • Transcription Factor AP-2
  • Transcription Factors / genetics*


  • Aquaporins
  • DNA-Binding Proteins
  • Eye Proteins
  • Homeodomain Proteins
  • Membrane Glycoproteins
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Pax6 protein, mouse
  • Repressor Proteins
  • Tfap2a protein, mouse
  • Transcription Factor AP-2
  • Transcription Factors
  • aquaporin 0