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Developmental Biology
Article
License: Elsevier Non-Commercial
Data sources: UnpayWall
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Developmental Biology
Article . 2009
License: Elsevier Non-Commercial
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Developmental Biology
Article . 2009 . Peer-reviewed
License: Elsevier Non-Commercial
Data sources: Crossref
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Pax6 dosage requirements in iris and ciliary body differentiation

Authors: Ruth Ashery-Padan; Joachim Berger; Paul A. Overbeek; Shaul Raviv; Ernst R. Tamm; Anastassia Stoykova; Chen Yoffe; +3 Authors

Pax6 dosage requirements in iris and ciliary body differentiation

Abstract

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.

Keywords

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

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    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%
Powered by OpenAIRE graph
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).
BIP!Citations provided by BIP!
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.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
64
Top 10%
Top 10%
Top 10%
hybrid