Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans

Science. 1994 Aug 5;265(5173):785-9. doi: 10.1126/science.7914031.


A Drosophila gene that contains both a paired box and a homeobox and has extensive sequence homology to the mouse Pax-6 (Small eye) gene was isolated and mapped to chromosome IV in a region close to the eyeless locus. Two spontaneous mutations, ey2 and eyR, contain transposable element insertions into the cloned gene and affect gene expression, particularly in the eye primordia. This indicates that the cloned gene encodes ey. The finding that ey of Drosophila, Small eye of the mouse, and human Aniridia are encoded by homologous genes suggests that eye morphogenesis is under similar genetic control in both vertebrates and insects, in spite of the large differences in eye morphology and mode of development.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Aniridia / genetics*
  • Base Sequence
  • DNA Transposable Elements / physiology
  • DNA-Binding Proteins / genetics*
  • Drosophila / embryology
  • Drosophila / genetics*
  • Drosophila Proteins*
  • Eye / chemistry
  • Eye Proteins
  • Genes, Homeobox
  • Homeodomain Proteins*
  • Humans
  • Larva / genetics
  • Mice
  • Mice, Mutant Strains / genetics*
  • Molecular Sequence Data
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • RNA, Messenger / analysis
  • Regulatory Sequences, Nucleic Acid / physiology
  • Repressor Proteins
  • Sequence Homology, Amino Acid


  • DNA Transposable Elements
  • DNA-Binding Proteins
  • Drosophila Proteins
  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Pax6 protein, mouse
  • RNA, Messenger
  • Repressor Proteins
  • ey protein, Drosophila

Associated data

  • GENBANK/X79492
  • GENBANK/X79493