Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.

@article{Kleinjan2001AniridiaassociatedTD,
  title={Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.},
  author={Dirk A. Kleinjan and Anne Seawright and Andreas Schedl and Roy A Quinlan and Stratton G Danes and Veronica van Heyningen},
  journal={Human molecular genetics},
  year={2001},
  volume={10 19},
  pages={2049-59}
}
The transcription factor PAX6 plays a critical, evolutionarily conserved role in eye, brain and olfactory development. Homozygous loss of PAX6 function affects all expressing tissues and is neonatally lethal; heterozygous null mutations cause aniridia in humans and the Small eye (Sey) phenotype in mice. Several upstream and intragenic PAX6 control elements have been defined, generally through transgenesis. However, aniridia cases with chromosomal rearrangements far downstream of an intact PAX6… CONTINUE READING

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