Hauptinhalt

Pathomechanisms of neurocrestopathies

Neurocrestopathies are human syndromes and congenital defects resulting from improper neural crest development. Xenopus is a vertebrate model system, which allows for fast analysis of conserved signaling cascades with relevance to human disease. Gain- and loss of function can be easily performed and processes such as neural crest migration can be analyzed in a matter of days. Thus, this model system is well suited to analyze potential neurocrestopathies on a molecular level. Regarding CHARGE syndrome others and we have shown that loss of function of CHD7 in Xenopus embryos leads to defects in neural crest specification as well as migration. Furthermore, at tadpole stages CHD7 loss of function recapitulates all major features of CHARGE syndrome in Xenopus embryos (Bajpai et al., 2010; Schulz et al., 2014) supporting the notion that CHARGE syndrome is indeed a neurocrestopathie.