ArticleProceedings of the National Academy of Sciences of the United States of America1994
Molecular basis of splotch and Waardenburg Pax-3 mutations.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed.
- PAX3: A Driver of Normal Development and Disease.Biomolecules · 2026Review
- Genetic architecture of craniofacial morphogenesis: roles ofFrontiers in cell and developmental biology · 2026Review
- Article
- Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.Gene therapy · 2022Review
- Pax7 pioneer factor action requires both paired and homeo DNA binding domains.Nucleic acids research · 2021Article
- Mechanisms of Congenital Malformations in Pregnancies with Pre-existing Diabetes.Current diabetes reports · 2020Review
- Review
- PAX3 and FOXD3 Promote CXCR4 Expression in Melanoma.The Journal of biological chemistry · 2015Article
- Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction.World journal of clinical cases · 2014Article
- A phosphatidylinositol 3-kinase-Pax3 axis regulates Brn-2 expression in melanoma.Molecular and cellular biology · 2012Article
- p53 in the CNS: Perspectives on Development, Stem Cells, and Cancer.Genes & cancer · 2011Article
- Functional interaction between Foxd3 and Pax3 in cardiac neural crest development.Genesis (New York, N.Y. : 2000) · 2011Article
- Article
- Cardiac neural crest orchestrates remodeling and functional maturation of mouse semilunar valves.The Journal of clinical investigation · 2011Article
- The Pax3 and Pax7 paralogs cooperate in neural and neural crest patterning using distinct molecular mechanisms, in Xenopus laevis embryos.Developmental biology · 2010Article
- Diabetes and apoptosis: neural crest cells and neural tube.Apoptosis : an international journal on programmed cell death · 2009Review
- Transcriptional activities of the Pax6 gene eyeless regulate tissue specificity of ectopic eye formation in Drosophila.Developmental biology · 2009Article
- Id3 is a direct transcriptional target of Pax7 in quiescent satellite cells.Molecular biology of the cell · 2009Article
- Pax genes in embryogenesis and oncogenesis.Journal of cellular and molecular medicine · 2008Review
- Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease.Pigment cell & melanoma research · 2008Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pax genes control certain aspects of development, as mutations result in (semi)dominant defects apparent during embryogenesis. Pax-3 has been associated with the mouse mutant splotch (Sp) and the human Waardenburg syndrome type 1 (WS1). We have examined the molecular basis of splotch and WS1 by studying the effect of mutations on DNA binding, using a defined target sequence. Pax-3 contains two different types of functional DNA-binding domains, a paired domain and a homeodomain. Mutational analysis of Pax-3 reveals different modes of DNA binding depending on the presence of these domains. A segment of Pax-3 located between the two DNA-binding domains, including a conserved octapeptide, participates in protein homodimerization. Pax-3 mutations found in splotch alleles and WS1 individuals change DNA binding and, in the case of a protein product of the Sp allele, dimerization. These findings were taken as a basis to define the molecular nature of the mutants.
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