Small eye (Sey): cloning and characterization of the murine homolog of the human aniridia gene

Genomics. 1992 Jun;13(2):251-6. doi: 10.1016/0888-7543(92)90239-o.


Phenotypic parallels and genetic evidence from comparative mapping suggest that the murine Small eye (Sey) and human aniridia (AN) disorders are homologous. This report describes the isolation of a murine embryonic cDNA that is structurally homologous to the AN cDNA were recently cloned. The murine cDNA detects a 2.7-kb transcript in the adult mouse eye and cerebellum and in human glioblastomas, suggesting a neuroectodermal involvement in the etiology of Sey/AN. Sequence comparison between the murine and the human cDNAs revealed extensive homology in nucleotide sequence (greater than 92%) and virtual identity at the amino acid level. None of the differing amino acids was located within the paired box and homeobox DNA-binding domains. These results provide evidence for a common molecular basis underlying the two genetic disorders and suggest that the Sey system would be an authentic model for human AN.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Aniridia / embryology
  • Aniridia / genetics
  • Base Sequence
  • Brain / growth & development
  • Brain / metabolism
  • Central Nervous System Neoplasms / genetics
  • Central Nervous System Neoplasms / pathology
  • Cloning, Molecular
  • DNA / genetics
  • Eye / growth & development
  • Eye / metabolism
  • Eye Abnormalities / genetics*
  • Gene Expression
  • Gene Expression Regulation, Neoplastic
  • Genes, Lethal*
  • Humans
  • Mice / genetics*
  • Molecular Sequence Data
  • Neural Crest / metabolism
  • Nose / abnormalities
  • Organ Specificity
  • RNA, Messenger / biosynthesis
  • RNA, Neoplasm / biosynthesis
  • Regulatory Sequences, Nucleic Acid
  • Sequence Homology, Nucleic Acid
  • Tumor Cells, Cultured / metabolism


  • RNA, Messenger
  • RNA, Neoplasm
  • DNA