Molecular basis for the complex neurocristopathy PCWH and mechanisms underlying SOX10 allelic affinity

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SOX10 mutations cause either Waardenburg-Hirshcsprung disease(WS4) or Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirshcsprung disease(PCWH). We have been studying the molecular mechanisms underlying allelic affinity observed in SOX10 mutations by in vitro analyses. In this proposal, we sought to determine the cellular pathology of PCWH using BAC transgenic mice and to clarify the molecular basis for the allelic affinity in vivo.