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.

KEYWORDS:

• CHARGE syndrome
• enteric nervous system
• Hirschsprung's disease
• melanocytes
• neural crest cells
• neurocristopathies
• pigmentation
• Waardenburg syndrome

This article refers to:

Disclosure of potential conflicts of interest

No potential conflicts of interest were disclosed.

Acknowledgments

The author thanks David W. Silversides in whose laboratory the transgenic mice were generated.

Funding

The Pilon laboratory is funded by grants from the Canadian Institute of Health Research (CIHR), the Natural Science and Engineering Research Council of Canada (NSERC), the Fonds de la recherche du Québec – Santé (FRQS) and the Fondation du grand défi Pierre Lavoie.