ArticleHuman molecular genetics2011
The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.
Article in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 15 citations in OpenAlex.
- Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.European journal of human genetics : EJHG · 2025Article
- Multiple roles for Pax2 in the embryonic mouse eye.Developmental biology · 2021Article
- Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.International journal of molecular sciences · 2020Review
- Three NewNeuro-ophthalmology (Aeolus Press) · 2017Article
- An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility.Biological psychiatry · 2016Article
- Inner ear development: building a spiral ganglion and an organ of Corti out of unspecified ectoderm.Cell and tissue research · 2015Review
- A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].PLoS genetics · 2014Article
- Association between graves' disease and renal coloboma syndrome: a case report.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2013Article
- Deficient FGF signaling causes optic nerve dysgenesis and ocular coloboma.Development (Cambridge, England) · 2013Article
- Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development.Human molecular genetics · 2012Article
- Two novel EGFP insertion alleles reveal unique aspects of Pax2 function in embryonic and adult kidneys.Developmental biology · 2012Article
- Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.Human mutation · 2012Article
- Scanning thin-sheet laser imaging microscopy elucidates details on mouse ear development.Developmental dynamics : an official publication of the American Association of Anatomists · 2012Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
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Abstract
Renal-coloboma syndrome, also known as papillorenal syndrome, is an autosomal dominant human disorder in which optic disc coloboma is associated with kidney abnormalities. Mutations in the paired domain transcription factor PAX2 have been found to be the underlying cause of this disease. Disease severity varies between patients, and in some cases, renal hypoplasia has been found in the absence of any retinal defects. Here we report an N-ethyl-N-nitrosourea-induced mouse mutation, Opdc, which is an isoleucinetothreonine missense mutation, I40T, in the first α-helix of the Pax2 paired domain. The mutant protein binds target DNA sequences less strongly than the wild-type protein and acts poorly to transactivate target promoters in culture. The phenotypic consequence of this mutation on the development of the eye and ear is similar to that reported for null alleles of Pax2. However, in homozygotes, cerebellar development is normal on a genetic background in which loss of Pax2 results in failure of cerebellar formation. Moreover, there is a genetic background effect on the heterozygous phenotype such that on some strain backgrounds, kidney development is unaffected. Opdc is the first hypomorphic mutation reported for Pax2 that differs in phenotype from loss-of-function mutations. These results suggest that PAX2 is a strong candidate gene for cases in which human patients have optic disc coloboma not associated with renal dysplasia.
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