1
Supplementary Table 1.
Gene
ADAMTS20
EDN3
EDNRB
EGFR
GNA11
KIT
KITLG
MITF
PAX3
PDGFRA
DCT
RAB38
SILV
SLC45A2
TYRP1
AP3B1
AP3D1
Region
Exon 20
Exon 2
Exon 3
Exon 2
Exon 6-7
Exon 13
Exon 19-20
Exon 2-Intron 2
Exon 7
Exon 15
Exon 5
Exon 3
Intron 3-Exon 4
Exon 9
Exon 5
Exon 11
Exon 3
Exon 6
Exon 3-4
Exon 8
Exon 2
Exon 6
Exon 11
Exon 2
Exon 3
Exon 4
Exon 5
Exon 6
Exon 4-Intron 4
Exon 27
Exon 11-12
Exon 25
Primer forward sequence 5’- 3’
TCTTCATAGAAGAAAAATTACTTG
GATGGGTGCCTCACCCCCAGTCT
ACGGACTGCGCCCTATGGAC
ATGCAGCCGCTGCCCAGCTTG
AGACGGGAAGTGGCCAAAAC
AGGCCGCAGGCCACATCTGTCAC
GCATTCGGCACCGTGTACAAG
GCTCTCGGACTCCGCCAAGTA
GCCCCCAGCGGGACGCGCAGGC
CAATGATAGTACTAATGAGTAC
AATCATCTAAGAGCCCAGAACC
GTGCAGACCCACCTCGAAAAC
TTACACTTAACTCCAACTGTG
GAACTTGAAATGCAGGCTCGAG
CTCGGCACCCCAATCAGATGA
ATCAATATGGGCAGTATGGAC
ACCCAGATGTAGCCTTCGTAC
AGAAAGGATTTATTGAAATC
GACCAGGGCGCCCATACAAGG
TGCCAGTTGAAGAAACTCCAG
CATGACACGGGTCTATTACCG
GGCAAGAAGCAGGCCTCAGGC
CGAAGACTTATGAAGCAAGGC
GGCCATAAGTGTCACCATGA
TCAGGAGAAACCTTCTGGACTT
GAAATGTTGCAGGATCCTTCTTTC
ACTGAGGGTGGGCCAATTA
AAGGTATGACCCTGCTGTGC
ATCAAGAAGTTAGTGTATG
TTTGCAGCTAAAACTGTGCACAG
CTCTGCGTTCAGAAATTGAGG
CGTACGATGTACAGGGCAGCC
Primer reverse sequence 5’- 3’
CTTAGTTCACAGTCTGTATTGC
TCAGGGGTGTTGATCCAGATGAT
CCGCGGGCAGCCAGGGACC
GTATTGATGGGGATATCAATG
TGCCAATGTAGTCCAATACC
CCCTCTAGAATGTTGCACTTTC
GCCTTCTGGGATCCAGAGTCC
CGGTCCACGTCCGTCAGGTAG
TCACACCAGGTTGTACTCCTTC
CTATTCTTGCAGATCTCCTCTTG
AATCATCTAAGAGCCCAGAACC
TTCACAGTTGGAGTTAAGTGT
CTTGGGCATTCGCTCTCCGCC
CTAGCAAGCGTGTTCGGTTTC
CTGTACTCGGGCCTCTGTAAG
GCGATATCTGGCTTGAGATAATG
CTGTGTAAGCATAAACATTG
TTATTTCCTGAATCTTTTCT
CTATCACAGACAATCTCCCAG
CTAGGCTTCTTCGGTGTATCT
AACCATCCCACGAAACCAT
CCTTGCTTCATAAGTCTTCGC
TCAGACCTGCTGTCCACTGAG
TGAGACACTGGATGGCTTCA
TTTCCTGCATGTCTCTCTCCA
GGTTCCCAGGGTATCATAATCTT
CACTGTGTTTCGGAAGCTGT
CAGCATTGTATCGCCTCAGC
GCACTTGCACGAATTAGTTGA
TTACCCCTGGGACAGGACAGGC
CCAGGAGCCCCAGGTACTTCA
CAGGGGGCAGCTGGAAAGGCAC
Product size (bp)
125
289
177
473
738
133
657
555
190
94
150
222
1030
399
205
527
262
189
385
179
246
573
140
220
323
195
162
161
561
152
747
189
DTNBP1
HPS1
HPS3
HPS4
HPS5
HPS6
OCA2
PLDN
VPS33A
MLPH
MYO5A
RAB27A
alphaMSH
ASIP
ATRN
MC1R
MGRN1
GNAQ
ATP7A
Intron 1
Exon 8
Exon 3
Exon 15
Exon 11
Exon 9
Exon 11
Exon 2
Exon 7
Exon 20-21
Exon 2
Exon 2-3
Exon 12
Exon 8
Exon 10
Intron 8
Exon 32
Exon 3
Exon 4
Exon 5
Exon 3
Exon 2
Exon 9
Exon 18-19
Exon 1
Exon 4
Exon 10-11
Exon 6
Exon 7
Exon 2-3
Exon 5
Exon 9
AGTGACAAGTCAAGAGAAGCT
TGAACTTGATGCAGAGCACTC
TGAAGTGCGTCTTGGTGGCCAC
TCTCTTATATGTGGTCCTTCA
CAACCTGCCGCAGGTGACCAC
TATTCAGGATGTGGCTGTTTG
GTGGCTCCCAGGGAAGTGAAG
ACTAGGCCTGAAGCACTGGAGC
CTGTGAACCTCAGCAGCCACG
GCATTGGCACATCTCCACTTA
GGACAGGTTTAAGTGACACTTC
GCAATAGTTTGGGATGAGTAT
ATCCCACAGACATATCGTACG
GCCCTCACAGATGACCCCTGC
GGCATCCAGGTGGTGACGAGC
CGGTGTACTGGACATTTATGG
GGGCCAGATGGAGAACATATCG
ATGTCTGATGGAGACTATGAT
TGTACAGAGCCAATGGGCCAG
TTTCGTAGCTTGACAACTGCC
CGTGCATCCGGGCCTGCAAGC
ATGGATGTCAGCCGCCTCCT
ATAAGAACACATGGAGTATATTAC
GTATACCATGAGCAGCTGCCC
GCCTCGTTGGCTTCTTCATA
GGACAAGGACGGCGCCGACAG
GAGATCTATGGCATCGAGAAC
ACCGAATGGAGGAAAGCAAAG
ACCCCAGCGAGATGCCCAGGC
AAGGTGTTCAGCGAATTAAAG
TACAAATGAGCCATTGGTAGT
GTGGCGACGGGCCTTTCTTGT
TTCGGCAAACACGGGACAGTC
CTCGCCTCTCCGCTATCTGC
CTTCTCGCCCTCATTCTCTGTC
CCGATTCTTTTCTTTCAGCTC
CTGACGGTCACCTCGTACAGAG
TCTGCTGGCAATGACAGAATT
TGTCACTGATGCGTGAGAAAC
TGGAGTGTCTGGGTCCCATAG
CTGCTGTGGCCGCCGCCGCC
GCGCTGATCTTCGGGGACCAT
GTGAGTTCCTGGAGAGCTTGT
CAATTCTAGCCTGGGTCTGAC
GTTTCTTTTGCAGTCCTGTGG
GGAGTGGCAGCGACCCCTGG
CTCCCGGGTGGCCCCAGGGT
CATATTGAATTGTTGCTGTAG
CCAGAATCAGGTTCTTCACAAG
CACTCTGTTTTCCCTGAAATC
CTCTCTTGTCCAGCTGTGTCC
TTATCCAGTTTCTGACATTGA
TCACTGGCCCTTCTTGTGGGC
AGGCAACTCACCCACGATAG
CACATCTGGGTGTCCACATC
GACTACAGGTACAGTAGCCTG
CCTTCTTTCTGCACCTCTCG
GCAGCAGTCCCGTTCAGGAAC
TCGCTGTTCTCCTCGTCCGAG
CATCGTATTCCGGGAAATAGT
CTAGACCAGATTGTACTCCTTC
AGCTTCTTGATTGTCCAAGGA
CTTCTTCTCGTCTTAAATTCC
CTGTACAGGAACACACAATA
1047
155
116
207
108
177
159
453
161
723
148
795
167
203
190
599
146
153
86
102
531
171
184
580
216
147
643
153
190
536
211
227
1
Supplementary Table 2.
Melanocyte
development
Gene
ADAMTS20
Name of Gene
Accession N°
A Disintegrin-like and Metalloprotease EU037990
with Thrombospondin type 1 motif, 20
EDN3
EDNRB
EGFR
GNA11
Endothelin 3
Endothelin Receptor Type B
Epidermal Growth Factor Receptor
Guanine Nucleotide binding protein,
Alpha 11
c-kit receptor
KIT ligand
Microphthalmia-associated
Transcription Factor
Paired box gene 3
Platelet-Derived
Growth
Factor
Receptor, Alpha polypeptide
Dopachrome Tautomerase
KIT
KITLG
MITF
PAX3
PDGFRA
Components
of DCT
melanosomes and
their precursor
RAB38
SILV
SLC45A2
Melanosome
construction/protein
routing
Melanosome
transport
Tyrosinase-Related Protein 1
Adaptor-related Protein complex
Beta 1 subunit
AP3D1
Adaptor-related Protein complex 3;
Delta 1 subunit
Dystrobrevin Binding Protein 1
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 6
Oculocutaneous Albinism II
Pallidin
Vacuolar Protein Sorting 33 homolog A
Melanophilin
MYO5A
RAB27A
Eumelanin
pheomelanin
and alphaMSH
ASIP
ATRN
MC1R
MGRN1
D45168
AB002152
EU074674
EU074692
EU074683
EU037991GU393242
RAB38, member of RAS oncogene EU037982
family
Silver homolog
EU074675
Solute Carrier family 45 member 2
EU037984
TYRP1
AP3B1
DTNBP1
HPS1
HPS3
HPS4
HPS5
HPS6
OCA2
PLDN
VPS33A
MLPH
EU074673
EU644500
EU074686
EU074691
AF136926
3, EU074676
EU074677
EU074688
EU037989
EU037986
EU037987
EU074678
EU037988
EU074679
EU037993
EU074687
EU074685
Myosin VA
EU074680
RAB27A, member RAS oncogene EU074682
family
alpha-Melanocyte Stimulating Hormone EU037985
Agouti Signaling Protein, nonagouti EU037983
homolog
Attractin
EU074681
Melanocortin 1 Receptor
Y13958
Mahogunin ring finger 1
EU037992
EU074684
-
Dark skin
GNAQ
ATP7A
1
2
Guanine Nucleotide binding protein, EU074690
Alpha Q polypeptide
ATPase, Cu++ transporting, alpha EU074689
polypeptide