ArticleProceedings of the National Academy of Sciences of the United States of America1993
A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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49 citing papers in PubMed, 179 citations in OpenAlex.
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- Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat.Animals : an open access journal from MDPI · 2024Article
- Loss of Pax3 causes reduction of melanocytes in the developing mouse cochlea.Scientific reports · 2024Article
- Pax3 lineage-specific deletion of Gpr161 is associated with spinal neural tube and craniofacial malformations during embryonic development.Disease models & mechanisms · 2023Article
- Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease.Stem cell research · 2021Article
- PAX3 is a biomarker and prognostic factor in melanoma: Database mining.Oncology letters · 2019Article
- Network correlation analysis revealed potential new mechanisms for neural tube defects beyond folic acid.Birth defects research · 2018Article
- Pdgfrα functions in endothelial-derived cells to regulate neural crest cells and the development of the great arteries.Disease models & mechanisms · 2017Article
- Pax7 is required for establishment of the xanthophore lineage in zebrafish embryos.Molecular biology of the cell · 2016Article
- Gene Expression Profiling of Muscle Stem Cells Identifies Novel Regulators of Postnatal Myogenesis.Frontiers in cell and developmental biology · 2016Article
- Knockout mouse models of Hirschsprung's disease.Pediatric surgery international · 2015Review
- EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.BMC medical genetics · 2015Article
- Pax3 isoforms in sensory neurogenesis: expression and function in the ophthalmic trigeminal placode.Developmental dynamics : an official publication of the American Association of Anatomists · 2014Article
- The "domestication syndrome" in mammals: a unified explanation based on neural crest cell behavior and genetics.Genetics · 2014Article
- Melanoma biomolecules: independently identified but functionally intertwined.Frontiers in oncology · 2013Review
- Stat3-targeted therapies overcome the acquired resistance to vemurafenib in melanomas.The Journal of investigative dermatology · 2013Article
- Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis.Human molecular genetics · 2013Article
- TBX2 expression is regulated by PAX3 in the melanocyte lineage.Pigment cell & melanoma research · 2013Article
- Transcriptional analyses of two mouse models of spina bifida.Birth defects research. Part A, Clinical and molecular teratology · 2012Article
- FGF2 regulates melanocytes viability through the STAT3-transactivated PAX3 transcription.Cell death and differentiation · 2012Article
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Authors and funding
4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
The splotch (Sp) mouse mutant displays defects in neural tube closure in the form of exencephaly and spina bifida. Recently, mutations in the Pax-3 gene have been described in the radiation-induced Spr and Sp2H alleles. This led us to examine the integrity of the Pax-3 gene and its cellular mRNA transcript in the original, spontaneously arising Sp allele. A complex mutation in the Pax-3 gene including an A-->T transversion at the invariant 3' AG splice acceptor of intron 3 was identified in the Sp/Sp mutant. This genomic mutation abrogates the normal splicing of intron 3, resulting in the generation of four aberrantly spliced mRNA transcripts. Two of these Pax-3 transcripts make use of cryptic 3' splice sites within the downstream exon, generating small deletions which disrupt the reading frame of the transcripts. A third aberrant splicing event results in the deletion of exon 4, while a fourth retains intron 3. These aberrantly spliced mRNA transcripts are not expected to result in functional Pax-3 proteins and are thus responsible for the phenotype observed in the Sp mouse mutant.
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