ArticlePLoS genetics2010
Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.
Article in PLoS genetics, 2010. 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, 25 citations in OpenAlex.
- Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.European journal of human genetics : EJHG · 2025Article
- Mice with aAmerican journal of physiology. Renal physiology · 2024Article
- Improving Molecular Therapy in the Kidney.Molecular diagnosis & therapy · 2020Review
- Article
- Mutation in Bmpr1b Leads to Optic Disc Coloboma and Ventral Retinal Gliosis in Mice.Investigative ophthalmology & visual science · 2020Article
- New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.BMC nephrology · 2018Review
- Three NewNeuro-ophthalmology (Aeolus Press) · 2017Article
- Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.PLoS genetics · 2015Article
- Mutations in PAX2 associate with adult-onset FSGS.Journal of the American Society of Nephrology : JASN · 2014Article
- Deficient FGF signaling causes optic nerve dysgenesis and ocular coloboma.Development (Cambridge, England) · 2013Article
- Graded levels of Pax2a and Pax8 regulate cell differentiation during sensory placode formation.Development (Cambridge, England) · 2012Article
- Renal coloboma syndrome.European journal of human genetics : EJHG · 2011Review
- The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.Human molecular genetics · 2011Article
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Authors and funding
13 authors at 7 institutions in 1 country.
Funding
Abstract
Papillorenal syndrome (PRS, also known as renal-coloboma syndrome) is an autosomal dominant disease characterized by potentially-blinding congenital optic nerve excavation and congenital kidney abnormalities. Many patients with PRS have mutations in the paired box transcription factor gene, PAX2. Although most mutations in PAX2 are predicted to result in complete loss of one allele's function, three missense mutations have been reported, raising the possibility that more subtle alterations in PAX2 function may be disease-causing. To date, the molecular behaviors of these mutations have not been explored. We describe a novel mouse model of PRS due to a missense mutation in a highly-conserved threonine residue in the paired domain of Pax2 (p.T74A) that recapitulates the ocular and kidney findings of patients. This mutation is in the Pax2 paired domain at the same location as two human missense mutations. We show that all three missense mutations disrupt potentially critical hydrogen bonds in atomic models and result in reduced Pax2 transactivation, but do not affect nuclear localization, steady state mRNA levels, or the ability of Pax2 to bind its DNA consensus sequence. Moreover, these mutations show reduced steady-state levels of Pax2 protein in vitro and (for p.T74A) in vivo, likely by reducing protein stability. These results suggest that hypomorphic alleles of PAX2/Pax2 can lead to significant disease in humans and mice.
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