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.