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Mouse small eye results from mutations in a paired-like homeobox-containing gene.

Publication ,  Journal Article
Hill, RE; Favor, J; Hogan, BL; Ton, CC; Saunders, GF; Hanson, IM; Prosser, J; Jordan, T; Hastie, ND; van Heyningen, V
Published in: Nature
December 19, 1991

Small eye (Sey) in mouse is a semidominant mutation which in the homozygous condition results in the complete lack of eyes and nasal primordia. On the basis of comparative mapping studies and on phenotypic similarities, Sey has been suggested to be homologous to congenital aniridia (lack of iris) in human. A candidate gene for the aniridia (AN) locus at 11p13 has been isolated by positional cloning and its sequence and that of the mouse homologue has been established (C.T., manuscript in preparation). This gene belongs to the paired-like class of developmental genes first described in Drosophila which contain two highly conserved motifs, the paired box and the homeobox. In vertebrates, genes which encode the single paired domain as well as those which express both motifs have been described as the Pax multigene family. A Pax gene recently described as Pax-6 is identical to the mouse homologue of the candidate aniridia gene. Here we report the analysis of three independent Sey alleles and show that indeed this gene is mutated and that the mutations would predictably interrupt gene function.

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Published In

Nature

DOI

ISSN

0028-0836

Publication Date

December 19, 1991

Volume

354

Issue

6354

Start / End Page

522 / 525

Location

England

Related Subject Headings

  • Restriction Mapping
  • Polymerase Chain Reaction
  • Phenotype
  • Oligodeoxyribonucleotides
  • Mutation
  • Molecular Sequence Data
  • Mice, Mutant Strains
  • Mice, Inbred C57BL
  • Mice
  • Male
 

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Hill, R. E., Favor, J., Hogan, B. L., Ton, C. C., Saunders, G. F., Hanson, I. M., … van Heyningen, V. (1991). Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature, 354(6354), 522–525. https://doi.org/10.1038/354522a0
Hill, R. E., J. Favor, B. L. Hogan, C. C. Ton, G. F. Saunders, I. M. Hanson, J. Prosser, T. Jordan, N. D. Hastie, and V. van Heyningen. “Mouse small eye results from mutations in a paired-like homeobox-containing gene.Nature 354, no. 6354 (December 19, 1991): 522–25. https://doi.org/10.1038/354522a0.
Hill RE, Favor J, Hogan BL, Ton CC, Saunders GF, Hanson IM, et al. Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature. 1991 Dec 19;354(6354):522–5.
Hill, R. E., et al. “Mouse small eye results from mutations in a paired-like homeobox-containing gene.Nature, vol. 354, no. 6354, Dec. 1991, pp. 522–25. Pubmed, doi:10.1038/354522a0.
Hill RE, Favor J, Hogan BL, Ton CC, Saunders GF, Hanson IM, Prosser J, Jordan T, Hastie ND, van Heyningen V. Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature. 1991 Dec 19;354(6354):522–525.
Journal cover image

Published In

Nature

DOI

ISSN

0028-0836

Publication Date

December 19, 1991

Volume

354

Issue

6354

Start / End Page

522 / 525

Location

England

Related Subject Headings

  • Restriction Mapping
  • Polymerase Chain Reaction
  • Phenotype
  • Oligodeoxyribonucleotides
  • Mutation
  • Molecular Sequence Data
  • Mice, Mutant Strains
  • Mice, Inbred C57BL
  • Mice
  • Male