Cellular and Molecular Life Sciences CMLS

, Volume 57, Issue 2, pp 186–194 | Cite as

Regulation of eye formation by the Rx and pax6 homeobox genes

  • P. H. Mathers*
  • M. Jamrich


The Rx and pax6 homeobox genes are among the earliest genes expressed in the eye primordia and play crucial roles in the specification of ocular fate. These genes exhibit strong conservation of sequence and expression patterns among vertebrates. As transcription factors, Rx and Pax6 exert their effects through the activation and repression of downstream targets. Overexpression of each protein induces ectopic retinal tissue formation, as well as induction of the other. pax6 gene mutations have been correlated with an array of human diseases, and a similar array of mutations potentially exists for the human Rx gene. Based on functional studies, the vertebrate Rx and pax6 genes are likely to regulate cell proliferation and are required for the initial commitment to retinal and lens cell fate, respectively, while pax6 appears to play additional roles in the formation of the retina and cornea.

Key words. Eye; development; embryo; Rx; Pax6; homeobox; transcription factor. 


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Copyright information

© Birkhäuser Verlag Basel, 2000

Authors and Affiliations

  • P. H. Mathers*
    • 1
  • M. Jamrich
    • 2
  1. 1.Departments of Otolaryngology, Biochemistry, and Ophthalmology and the Neuroscience Graduate Program, West Virginia University School of Medicine, P.O. Box 9200, Morgantown (West Virginia 26506, USA), Fax +1 304 293 2902, e-mail: US
  2. 2.Departments of Cell Biology and Molecular and Human Genetics, Baylor College of Medicine, T707, One Baylor Plaza, Houston (Texas 77030, USA)US

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