A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells

Toshihiko Matsuo, N. Osumi-Yamashita, S. Noji, Hideyo Ohuchi, E. Koyama, F. Myokai, N. Matsuo, S. Taniguchi, H. Doi, S. Iseki, Y. Ninomiya, M. Fujiwara, T. Watanabe, K. Eto

Research output: Contribution to journalArticle

246 Citations (Scopus)

Abstract

The rat small eye strain (rSey) lacks eyes and nose in the homozygote, and is similar to the mouse Sey strain with mutations in the Pax-6 gene. We isolated Pax-6 cDNA clones from an rSey homozygote library, and found an internal deletion of about 600 basepairs in the serine/threonine-rich domain. At the genomic level, a single base (G) insertion in an exon generates an abnormal 5' donor splice site, thereby producing the truncated mRNA. Anterior midbrain crest cells in the homozygous rSey embryos reached the eye rudiments but did not migrate any further to the nasal rudiments, suggesting that the Pax-6 gene is involved in conducting migration of neural crest cells from the anterior midbrain.

Original languageEnglish
Pages (from-to)299-304
Number of pages6
JournalNature Genetics
Volume3
Issue number4
DOIs
Publication statusPublished - 1993

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Mesencephalon
Mutation
Genes
Homozygote
Nose
RNA Splice Sites
Neural Crest
Threonine
Serine
Libraries
Exons
Embryonic Structures
Complementary DNA
Clone Cells
Messenger RNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. / Matsuo, Toshihiko; Osumi-Yamashita, N.; Noji, S.; Ohuchi, Hideyo; Koyama, E.; Myokai, F.; Matsuo, N.; Taniguchi, S.; Doi, H.; Iseki, S.; Ninomiya, Y.; Fujiwara, M.; Watanabe, T.; Eto, K.

In: Nature Genetics, Vol. 3, No. 4, 1993, p. 299-304.

Research output: Contribution to journalArticle

Matsuo, T, Osumi-Yamashita, N, Noji, S, Ohuchi, H, Koyama, E, Myokai, F, Matsuo, N, Taniguchi, S, Doi, H, Iseki, S, Ninomiya, Y, Fujiwara, M, Watanabe, T & Eto, K 1993, 'A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells', Nature Genetics, vol. 3, no. 4, pp. 299-304. https://doi.org/10.1038/ng0493-299
Matsuo, Toshihiko ; Osumi-Yamashita, N. ; Noji, S. ; Ohuchi, Hideyo ; Koyama, E. ; Myokai, F. ; Matsuo, N. ; Taniguchi, S. ; Doi, H. ; Iseki, S. ; Ninomiya, Y. ; Fujiwara, M. ; Watanabe, T. ; Eto, K. / A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. In: Nature Genetics. 1993 ; Vol. 3, No. 4. pp. 299-304.
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