Transcription factor genes and the developing eye: a genetic perspective

Hum Mol Genet. 1996;5 Spec No:1471-88. doi: 10.1093/hmg/5.supplement_1.1471.


We review the current knowledge of transcription factors in mammallan eye development. The 14 transcription factors presently known to be required for eye formation are examined in some detail, incorporating data from both humans and rodents. Aspects of the biochemistry, expression patterns, genetics, mutant phenotypes, and biological insights acquired from the examination of loss-of-function mutations are summarized. The other 32 tissue-restricted transcription factors that are currently known to be expressed in the developing or mature mammallan eye are tabulated, together with the timing and site of their ocular expression; the requirement for most of these genes in the eye is unknown. Contributions to mammallan eye development from the study of the genetics of the Drosophila eye are discussed briefly. Identification of the entire cohort of transcription factors required for eye development is an essential first step towards understanding the mechanisms underlying eye morphogenesis and differentiation, and the molecular basis of inherited eye abnormalities in humans.

Publication types

  • Review

MeSH terms

  • Animals
  • Eye / growth & development*
  • Helix-Loop-Helix Motifs
  • Homeodomain Proteins / genetics
  • Humans
  • Transcription Factors / genetics*
  • Zinc Fingers


  • Homeodomain Proteins
  • Transcription Factors