Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans.
نویسندگان
چکیده
منابع مشابه
Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome.
Mutations in the transcription factor PAX3 cause Waardenburg syndrome (WS) in humans and the mouse Splotch mutant, which display similar neural crest-derived defects. Previous characterization of disease-causing mutations revealed pleiotropic effects on PAX3 DNA binding and transcriptional activity. In this study, we evaluated the impact of disease alleles on PAX3 localization and mobility. Imm...
متن کاملEmbryonic folate metabolism and mouse neural tube defects.
Folic acid prevents 70 percent of human neural tube defects (NTDs) but its mode of action is unclear. The deoxyuridine suppression test detects disturbance of folate metabolism in homozygous splotch (Pax3) mouse embryos that are developing NTDs in vitro. Excessive incorporation of [3H]thymidine in splotch embryos indicates a metabolic deficiency in the supply of folate for the biosynthesis of p...
متن کاملA frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.
Neural tube defects (NTD) are among the most prevalent congenital malformations in man. Based on the molecular defect of Splotch, an established mouse model for NTD, and on the clinical association between NTD and Waardenburg syndrome (WS), mutations in the PAX3 gene can be expected to act as factors predisposing to human NTD. To test this hypothesis, 39 patients with familial NTD were screened...
متن کاملAbsence of linkage between familial neural tube defects and PAX3 gene.
Neural tube defects (NTD) are among the most common and disabling birth defects. The aetiology of NTD is unknown and their genetics are complex. The majority of NTD cases are sporadic, isolated, nonsyndromic, and generally considered to be multifactorial in origin. Recently, PAX3 (formerly HuP2, the human homologue of mouse Pax-3), on chromosome 2q35-37, was suggested as a candidate gene for NT...
متن کاملPax3 acts cell autonomously in the neural tube and somites by controlling cell surface properties.
Pax3 is a member of the paired-box-containing transcription factors. It is expressed in the developing somites, dorsal spinal cord, mesencephalon and neural crest derivatives. Several loss-of-function mutations are correlated with the Splotch phenotype in mice and Waardenburg syndrome in humans. Malformations include a lack of muscle in the limb, a failure of neural tube closure and dysgenesis ...
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عنوان ژورنال:
- Journal of medical genetics
دوره 29 3 شماره
صفحات -
تاریخ انتشار 1992