title: Pigmentation-based insertional mutagenesis is a simple and potent screening approach for identifying neurocristopathy-associated genes in mice.
abstract: Neurocristopathies form a specific group of rare genetic diseases in which a defect in neural crest cell development is causal. Because of the large number of neural crest cell derivatives, distinct structures/cell types (isolated or in combination) are affected in each neurocristopathy. The most important issues in this research field is that the underlying genetic cause and associated pathogenic mechanism of most cases of neurocristopathy are poorly understood. This article describes how a relatively simple insertional mutagenesis approach in the mouse has proved useful for identifying new candidate genes and pathogenic mechanisms for diverse neurocristopathies.
authors.affiliation: Molecular Genetics of Development Laboratory, Department of Biological Sciences and BioMed Research Center, Faculty of Sciences, University of Quebec at Montreal (UQAM), Montreal, Quebec, Canada; UQAM Research Chair on Rare Genetic Diseases, Montreal, Canada.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Pilon
keywords: CHARGE syndrome; Hirschsprung's disease; Waardenburg syndrome; enteric nervous system; melanocytes; neural crest cells; neurocristopathies; pigmentation