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URN: urn:nbn:de:swb:90-469678
DOI: 10.1371/journal.pone.0117645
Zitationen: 5
Web of Science
Zitationen: 6

Molecular description of eye defects in the zebrafish pax6b mutant, sunrise, reveals a pax6b-dependent genetic network in the developing anterior chamber

Takamiya, M.; Weger, B.D.; Schindler, S.; Beil, T.; Yang, L.; Armant, O.; Ferg, M.; Schlunck, G.; Reinhard, T.; Dickmeis, T.; Rastegar, S.; Strähle, U.; Leung, Y.F.

The cornea is a central component of the camera eye of vertebrates and even slight corneal disturbances severely affect vision. The transcription factor PAX6 is required for normal eye development, namely the proper separation of the lens from the developing cornea and the formation of the iris and anterior chamber. Human PAX6 mutations are associated with severe ocular disorders such as aniridia, Peters anomaly and chronic limbal stem cell insufficiency. To develop the zebrafish as a model for corneal disease, we first performed transcriptome and in situ expression analysis to identify marker genes to characterise the cornea in normal and pathological conditions. We show that, at 7 days post fertilisation (dpf), the zebrafish cornea expresses the majority of marker genes (67/84 tested genes) found also expressed in the cornea of juvenile and adult stages. We also characterised homozygous pax6b mutants. Mutant embryos have a thick cornea, iris hypoplasia, a shallow anterior chamber and a small lens. Ultrastructure analysis revealed a disrupted corneal endothelium. pax6b mutants show loss of corneal epithelial gene expression includi ... mehr

Zugehörige Institution(en) am KIT Institut für Toxikologie und Genetik (ITG)
Publikationstyp Zeitschriftenaufsatz
Jahr 2015
Sprache Englisch
Identifikator ISSN: 1932-6203
KITopen ID: 1000046967
HGF-Programm 47.01.01; LK 01
Erschienen in PLoS ONE
Band 10
Heft 2
Seiten e0117645
Bemerkung zur Veröffentlichung Gefördert durch den KIT-Publikationsfonds
Schlagworte transcription factor Pitx2; transcription factor Sox3; transcriptome; animal experiment; anterior eye chamber; Article; controlled study; cornea endothelium; ctnnb2 gene; dcn gene; developmental stage; embryo; eye development; eye malformation; fabp7a gene; fertilization; foxc1a gene; gene expression regulation; gene function; gene identification; gene mutation; gene regulatory network; genetic transcription; homozygosity; hypoplasia; nonhuman; pax6b gene; pitx2 gene; regulator gene; sox3 gene; tfap2a gene; zebra fish
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