Relationship of Pax6 Activity Levels to the Extent of Eye Development in the Mouse, Mus musculus
| Autor: | Walter Pretsch, Angelika Neuhäuser-Klaus, Rodica Sandulache, Irmgard Zaus, Jack Favor, Christian Johannes Gloeckner, Simon Saule |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Heterozygote endocrine system Genotype PAX6 Transcription Factor Mutant Breeding Investigations Biology Eye Mice Cornea Genetics medicine Animals Paired Box Transcription Factors Eye Proteins Allele Promoter Regions Genetic Homeodomain Proteins Chromosome Mapping Gene Expression Regulation Developmental DNA Organ Size Glucagon Surface ectoderm Molecular biology Mice Mutant Strains eye diseases Repressor Proteins Fertility Phenotype medicine.anatomical_structure Eye development Homeobox Female sense organs PAX6 Protein Binding |
| Zdroj: | Genetics 179, 1345-1355 (2008) |
| ISSN: | 1943-2631 |
| DOI: | 10.1534/genetics.108.088591 |
| Popis: | In this study we extend the mouse Pax6 mutant allelic series to include a homozygous and hemizygous viable hypomorph allele. The Pax6132-14Neu allele is a Phe272Ile missense mutation within the third helix of the homeodomain. The mutant Pax6 homeodomain shows greatly reduced binding activity to the P3 DNA binding target. Glucagon-promoter activation by the entire mutant Pax6 product of a reporter gene driven by the G1 paired and homeodomain DNA binding target was slightly increased. We constructed mutant Pax6 genotypes such that Pax6 activity ranged between 100 and 0% and show that the extent of eye development is progressively reduced as Pax6 activity decreased. Two apparent thresholds identify three groups in which the extent of eye development abruptly shifted from complete eye at the highest levels of Pax6 to a rudimentary eye at intermediate levels of Pax6 to very early termination of eye development at the lowest levels of Pax6. Of the two Pax6-positive regions that participate in eye development, the surface ectoderm, which develops into the lens vesicle and the cornea, is more sensitive to reduced levels of Pax6 activity than the optic vesicle, which develops into the inner and outer retinal layers. |
| Databáze: | OpenAIRE |
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