Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage

Dev Biol. 2007 Feb 1;302(1):218-29. doi: 10.1016/j.ydbio.2006.09.021. Epub 2006 Sep 16.

Abstract

The dysgenetic lens (dyl) mouse mutant has mutations in Foxe3, which inactivate DNA binding by the encoded forkhead transcription factor. Here we confirm, by targeted inactivation, that Foxe3 mutations are responsible for the dyl phenotype, which include loss of lens epithelium; a small, cataractic lens; and failure of the lens to detach from the surface ectoderm. In contrast to a recent report of targeted Foxe3, we found no phenotypic difference between dyl and Foxe3(-/-) mutants when congenic strains were compared, and thus nothing that argues against Foxe3(dyl) being a null allele. In addition to the lens, most tissues of the anterior segment-iris, cornea, ciliary body and trabecular meshwork-are malformed or show differentiation defects. Many of these abnormalities, such as irido-corneal and irido-lenticular adherences, are present in a less severe form in mice heterozygous for the Foxe3 mutation, in spite of these having an intact lens epithelium. Early Foxe3 expression is highly sensitive to a halved Pax6 gene dosage and there is a striking phenotypic similarity between Pax6 and Foxe3 mutants. We therefore propose that many of the ocular malformations associated with Pax6 haploinsufficiency are consequences of a reduced expression of Foxe3.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Anterior Eye Segment / abnormalities
  • Anterior Eye Segment / cytology
  • Anterior Eye Segment / embryology*
  • Eye Proteins / genetics*
  • Forkhead Transcription Factors / genetics
  • Forkhead Transcription Factors / metabolism*
  • Gene Dosage
  • Gene Expression Regulation, Developmental*
  • Homeodomain Proteins / genetics*
  • Lens, Crystalline / abnormalities
  • Lens, Crystalline / embryology
  • Mesoderm / cytology
  • Mice
  • Mice, Inbred BALB C
  • Morphogenesis*
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors / genetics*
  • Phenotype
  • Repressor Proteins / genetics*

Substances

  • Eye Proteins
  • Forkhead Transcription Factors
  • Foxe3 protein, mouse
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Pax6 protein, mouse
  • Repressor Proteins