Table 2.
Pigmentation gene expression network components organized by reference and component type.
| Reference | Transcription factors | Promoter/target gene | Regulatory elements | Transcription factor binding sequences | Evolutionary conservation | Year |
|---|---|---|---|---|---|---|
| Bentley et al., 1994 [42] | USF, MITF, SP1 | Tyrosinase, 115 bp fragment | M-box, CR1, CR2 | CATGTG, GGTGGA, GTGATAAT | Turtle, quail, human | 1994 |
|
| ||||||
| Besch and Berking, 2014 [43] | POU domain TFs, POU3F2 (Brn2) | MITF promoter | ATGCAAAT | 2014 | ||
|
| ||||||
| Fuse et al., 1996 [44] | MITF | MITF promoter, melanocyte | GATA, CRE, TATA-like | CATGTG | 1996 | |
|
| ||||||
| Gorkin et al., 2012 [45] | SOX10, MITF, TEAD1, JUND, FOS, JUN | 6-mers and 7-mers are more informative in these analyses than k-mers of other lengths | 2489 putative melanocyte enhancers | ACA[AGC]AG SOX10 | 2012 | |
| CAC[AG][TG]G MITF | ||||||
| GGAAT[GT][TC] TEAD1 | ||||||
| [AG]TGA[CG]TCA JUND,FOS,JUN | ||||||
|
| ||||||
| Loftus et al., 2009 [46] | MITF, SOX10 | Gpnmb | E-box motif | CACGTG, CACATGT, CACATGA (variant in other species), TCACATGA |
Mouse, rat, dog, cat, horse, platypus, chicken | 2009 |
|
| ||||||
| Moro et al., 1999 [47] | MITF, AP-1, AP-2, SP-1 | MC1R | E-box, TATA box, AP-1, AP-2, SP-1 | GCCTGCGG AP-2 | 1999 | |
| GCCCGGGG AP-2 | ||||||
| TGACTCAG AP-1 | ||||||
| CAAGTG (E-box) | ||||||
| CAGAGT (E-box) | ||||||
| CACCTG (E-box) | ||||||
| CAGGTG (E-box) | ||||||
| CAGGTG (E-box) | ||||||
| CAGCTG (E-box) | ||||||
|
| ||||||
| Murisier et al., 2006 [48] | SOX10, SP-1 | Tyrp1 melanocytes | E-box, SP-1 sites | AACAAA, | 2006 | |
| CANNTG E-box consensus | ||||||
| [AT][AT]CAA[TA] SP-1 | ||||||
|
| ||||||
| Murisier et al., 2007 [49] | Tyrosinase, retinal pigmented epithelium | DRE located at −15 kb acts as a strong transcriptional enhancer in melanocytes | Conserved noncoding sequences (CNS) that might represent putative novel regulatory elements of the Tyr gene | 2007 | ||
|
| ||||||
| Murisier et al., [50] | MITF, SOX10, Brn2, Mitf, Otx2, Pax2, Pax3, Pax6, Sox10, Tbx2, USF-1 | Tyrosinase, core enhancer requires the E-boxes and Sox10 motifs | DRE: distal reg. Elem, E-box, M-box | CANNTG E-box | 2007 | |
| AGTCANNTGCT M-box | ||||||
| [AT] [AT]CAA[TA] potential SOX binding | ||||||
|
| ||||||
| Schwahn et al., 2005 [51] | LEF-1 | MITF, tyrosinase, DCT, TRP-1, PMEL17, Moel for DCT expression in proliferating and senescent normal human melanocytes | M-box that includes the MITF CATGTG, which overlaps with (ER-a), USF-1, TFE-3, Isl-1 and AP-1 binding elements | CTTTGGGTCATGTG LEF-1 & M-box | 2005 | |
| GGTCATGTGCT estrogen RE | ||||||
|
| ||||||
| Vachtenheim and Borovanský, 2010 [11] | MITF, PAX3, LEF-1, SOX10, CREB, POU3F2, USF-1, p53, Tbx2 | Mc1R, EDNRB, RAB27A, OA1, PMEL17, MLANA, Gpnmb, melanostatin I, Aim1TYR, TRP-1, TRP-2 (DCT), | M-box, E-box, MITF binding motifs | MITF binding sites: AGTCATGTGCT, ACATGTGA, AATCATGTGCT, GGTCATGTGCT, GCACATGAGT, GCTCACATGCT, TCACGTGTG, TCACATGAA, GGCACATGATG, ACAGCTGA, CCATATGA |
2010 | |
|
| ||||||
| Vance and Goding, 2004 [52] | MITF, SOX10, LEF1, CREB, PAX3 | MITF promoter | M-box (T) CATGTG (A) | –268 CATTGTC –262 (SOX10), -260 TTAATACTACTGGAACT –244 (PAX3), –228 AATTGGCCTTGATCTGAC –211 (SOX10A/B), –199 CTTTGAT –193 (LEF1), –147 TGACGTCA –140 (CREB), –127 AATTGATATCAACATT –112 (OC) |
2004 | |
|
| ||||||
| Wan et al., 2011 [53] | MITF, SOX10, PAX3, STAT3, CREB, LEF-1, ITF2, FOXD3, BRN2 (POU3F2) | MITF promoter, tyrosinase promoter | 2011 | |||
|
| ||||||
| Watanabe et al., 2002 [54] | MITF, SOX10, PAX3 | MITF M promoter | Distal enhancer | [AT][AT]CAA[AT]G SOX10 | 2002 | |
| CATTGAA SOX10-s1 | ||||||
| AACAAA SOX10-s2 | ||||||
| TTTTGTT SOX10-s3 | ||||||
| AACAAAA SOX10-s4 | ||||||
Relevant information extracted from references is presented in the table. References are ordered alphabetically by the first author.