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. 2014;197(3):795–808. doi: 10.1534/genetics.114.165423

Table 2. Neural crest cell genes: Dosage effects and genetic interaction characteristics.

Gene Biochemical-molecular function Organisms studied Haploinsufficient effects Genetic interactions w/ other NCC genes Some references
Sox 10 Transcription factor Zebrafish, mouse, and human + + Dutton et al. (2001); Stanchina et al. (2006)
Sox 9 Transcription factor Zebrafish, mouse, and human + + Liu et al. (2013); Sahar et al. (2005)
Mitf Transcription factor Mouse, horse, and human + + Hauswirth et al. (2012); Reissman and Ludwig (2013); Tachibana (2000)
Tcof1 Nucleophosphoprotein Human and mouse + + Barlow et al. (2013); Shows and Shiang (2008)
FoxD3 Transcription factor Mouse and quail ND + Thomas and Erickson (2009)
Pax3 Transcription factor Human, mouse, and horse + + Epstein et al. (1993); Hauswirth et al. (2012); Moase and Trasler (1989)
Sox2 HMG-transcription factor Human and mouse + + (Adameyko et al. 2012; Langer et al. 2013)
Chd7 ATP-requiring chromatin remodeller protein Human and mouse + + Baipai et al. (2010)
Kit Receptor protein tyrosine kinase Human, mouse, horse, and dog + + Fleischmann et al. (1991); Haase et al. (2009); Reissman and Ludwig (2013)
Magoh Exon junction complex component Human and mouse + + Silver et al. (2013)
WSTF Transcription factor Human and mouse + ND Barnett et al. (2012)
Fgf8 Growth factor/signal transduction ligand Human and mouse + ND Frank 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)
Ret Receptor tyrosine kinase Human, mouse, and rat + + Borrego et al. (2013)
GDNF Glial-derived neurotrophic factor Zebrafish, mouse, and rat + ND Flynn et al. (2007)

NCC, neural crest cell; ND, not determined.