Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform.

@article{Singh2002IrisHI,
  title={Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform.},
  author={Sanjaya Singh and Rajnikant Mishra and Nelson Alexander Arango and Jian Min Deng and Richard R. Behringer and Grady Franklin Saunders},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2002},
  volume={99 10},
  pages={
          6812-5
        }
}
PAX6 is an evolutionarily conserved transcription factor that plays a critical role in vertebrate and invertebrate eye formation. Heterozygous null mutations in the PAX6 gene result in aniridia in humans and a distinct small eye syndrome in rodents. Vertebrates primarily express two alternatively spliced isoforms of Pax6 that differ by the presence or absence of exon 5a (e5A) that encodes an additional 14 aa residues within the paired domain. The e5a-containing isoform, PAX6(5a), is specific to… CONTINUE READING

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