Table 2 Neural crest cell genes: Dosage effects and genetic interaction characteristics
GeneBiochemical-molecular functionOrganisms studiedHaploinsufficient effectsGenetic interactions w/ other NCC genesSome references
Sox 10Transcription factorZebrafish, mouse, and human++Dutton et al. (2001); Stanchina et al. (2006)
Sox 9Transcription factorZebrafish, mouse, and human++Liu et al. (2013); Sahar et al. (2005)
MitfTranscription factorMouse, horse, and human++Hauswirth et al. (2012); Reissman and Ludwig (2013); Tachibana (2000)
Tcof1NucleophosphoproteinHuman and mouse++Barlow et al. (2013); Shows and Shiang (2008)
FoxD3Transcription factorMouse and quailND+Thomas and Erickson (2009)
Pax3Transcription factorHuman, mouse, and horse++Epstein et al. (1993); Hauswirth et al. (2012); Moase and Trasler (1989)
Sox2HMG-transcription factorHuman and mouse++(Adameyko et al. 2012; Langer et al. 2013)
Chd7ATP-requiring chromatin remodeller proteinHuman and mouse++Baipai et al. (2010)
KitReceptor protein tyrosine kinaseHuman, mouse, horse, and dog++Fleischmann et al. (1991); Haase et al. (2009); Reissman and Ludwig (2013)
MagohExon junction complex componentHuman and mouse++Silver et al. (2013)
WSTFTranscription factorHuman and mouse+NDBarnett et al. (2012)
Fgf8Growth factor/signal transduction ligandHuman and mouse+NDFrank et al. (2002)
piebald (s)Endothelin-3 (ET-3)Human and mouse++Robertson and Mason (1997); Stanchina et al. (2006)
piebald (l)Endothelin-receptor B (ENDR-B)Human and mouse++Pavan et al. (1995); Robertson and Mason (1997); Stanchina et al. (2006)
RetReceptor tyrosine kinaseHuman, mouse, and rat++Borrego et al. (2013)
GDNFGlial-derived neurotrophic factorZebrafish, mouse, and rat+NDFlynn et al. (2007)
  • NCC, neural crest cell; ND, not determined.