<script type="text/javascript">
<!--
document.write('<div id="oa_widget"></div>');
document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=undefined&type=result"></script>');
-->
</script>Pax6 dosage requirements in iris and ciliary body differentiation
pmid: 19563798
Pax6 dosage requirements in iris and ciliary body differentiation
Pax6 is a highly conserved transcription factor that controls the morphogenesis of various organs. Changes in Pax6 dosage have been shown to affect the formation of multiple tissues. PAX6 haploinsufficiency leads to aniridia, a pan-ocular disease primarily characterized by iris hypoplasia. Herein, we employ a modular system that includes null and overexpressed conditional alleles of Pax6. The use of the Tyrp2-Cre line, active in iris and ciliary body (CB) primordium, enabled us to investigate the effect of varying dosages of Pax6 on the development of these ocular sub-organs. Our findings show that a lack of Pax6 in these regions leads to dysgenesis of the iris and CB, while heterozygosity impedes growth of the iris and maturation of the iris sphincter. Overexpression of the canonical, but not the alternative splice variant of Pax6 results in severe structural aberrations of the CB and hyperplasia of the iris sphincter. A splice variant-specific rescue experiment revealed that both splice variants are able to correct iris hypoplasia, while only the canonical form rescues the sphincter. Overall, these findings demonstrate the dosage-sensitive roles of Pax6 in the formation of both the CB and the iris.
-  Baylor College of Medicine United States
 -  Max Planck Society Germany
 -  Tel Aviv University Israel
 -  University of Regensburg Germany
 
Gene dosage, PAX6 Transcription Factor, Gene Dosage, Iris, Ciliary body, Mice, Transgenic, Eye, Mice, Cre/loxP, Animals, Paired Box Transcription Factors, Eye Proteins, Molecular Biology, Pax6-5a, Homeodomain Proteins, Ciliary Body, Cell Differentiation, Cell Biology, Pax6, Repressor Proteins, Alternative Splicing, Sphincter muscle, Alternative splicing, Developmental Biology
Gene dosage, PAX6 Transcription Factor, Gene Dosage, Iris, Ciliary body, Mice, Transgenic, Eye, Mice, Cre/loxP, Animals, Paired Box Transcription Factors, Eye Proteins, Molecular Biology, Pax6-5a, Homeodomain Proteins, Ciliary Body, Cell Differentiation, Cell Biology, Pax6, Repressor Proteins, Alternative Splicing, Sphincter muscle, Alternative splicing, Developmental Biology
25 Research products, page 1 of 3
- 2017IsRelatedTo
 - 2017IsRelatedTo
 - 2017IsRelatedTo
 - 2017IsRelatedTo
 - 2017IsRelatedTo
 - 2017IsRelatedTo
 - 2002IsAmongTopNSimilarDocuments
 - 2017IsRelatedTo
 - 2017IsRelatedTo
 - 2017IsRelatedTo
 
chevron_left - 1
 - 2
 - 3
 chevron_right 
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).64 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10% 
