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PMID: 11069887 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye.

Genes & development ·Vol. 14 ·No. 21 ·2000-11-01 ·Pages 2701-11

Ashery-Padan R, Marquardt T, Zhou X, Gruss P

Abstract

The Pax6 transcription factor plays a key role in ocular development of vertebrates and invertebrates. Homozygosity of the Pax6 null mutation in human and mice results in arrest of optic vesicle development and failure to initiate lens formation. This phenotype obscures the understanding of autonomous function of Pax6 in these tissue components and during later developmental stages. We employed the Cre/loxP approach to inactivate Pax6 specifically in the eye surface ectoderm concomitantly with lens induction. Although lens induction occurred in the mutant, as indicated by Sox2 up-regulation in the surface ectoderm, further development of the lens was arrested. Hence, Pax6 activity was found to be essential in the specified ectoderm for lens placode formation. Furthermore, this mutant model allowed us for the first time to address in vivo the development of a completely normal retina in the absence of early lens structures. Remarkably, several independent, fully differentiated neuroretinas developed in a single optic vesicle in the absence of a lens, demonstrating that the developing lens is not necessary to instruct the differentiation of the neuroretina but is, rather, required for the correct placement of a single retina in the eye.

MeSH Terms
Animals Animals, Newborn DNA-Binding Proteins/biosynthesis Ectoderm/physiology Eye Abnormalities/genetics Eye Proteins/biosynthesis Feedback Gene Deletion Gene Expression Regulation, Developmental HMGB Proteins Homeodomain Proteins/genetics,physiology Humans Lens, Crystalline/abnormalities,embryology Mice Mice, Knockout Mice, Mutant Strains Morphogenesis/genetics Nuclear Proteins/biosynthesis PAX6 Transcription Factor Paired Box Transcription Factors Repressor Proteins Retina/abnormalities,embryology SOXB1 Transcription Factors Transcription Factors
Chemicals
DNA-Binding Proteins Eye Proteins HMGB Proteins Homeodomain Proteins Nuclear Proteins PAX6 Transcription Factor PAX6 protein, human Paired Box Transcription Factors Pax6 protein, mouse Repressor Proteins SOX2 protein, human SOXB1 Transcription Factors Sox2 protein, mouse Transcription Factors
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Ashery-Padan R
Max-Planck Institute of Biophysical Chemistry, Department of Molecular Cell Biology, Goettingen D-37077, Germany.
Marquardt T
Zhou X
Gruss P
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Article Info
Journal
Genes & development
Abbr.
Genes Dev
ISSN
0890-9369
DOI
10.1101/gad.184000
Published
2000-11-01
Pages
2701-11
Language
English
Region
United States
NLM ID
8711660
PMCID
PMC317031
Subset
IM
External Links
PubMed source DOI: 10.1101/gad.184000 PMC Full Text View journal details
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