Homo sapiens melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R), Genbank: nm 002386

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Homo sapiens melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R), Genbank: NM_002386

Nucleotides are numbered in blue

Aminoacids are numbered in green

Sequence variations underlying | Red Hair / Vitiligo, | Albinism / light skin complexion, | Polymorphisms, | Carcinoma

A: cAMP recognition
a (25)

-650 -640 -620 -610 | -590 -580

g agagg gcagg tcccg gggaa gctcc ggact cctag agggg cggcc aggtg ggggc cctgg tgacc

c tctcc cgtcc agggc ccctt cgagg cctga ggatc tcccc gccgg tccac ccccg ggacc actgg


-570 -560 -550 -540 -530 -520 -510

aggac agact gtggt gtttt ttaac gtaaa ggaga tccgc ggtgt gaggg acccc ctggg tcctg cacgc cgcct

tcctg tctga cacca caaaa aattg cattt cctct aggcg ccaca ctccc tgggg gaccc aggac gtgcg gcgga
t (25) E-Box (25) t (25)

-500 | -480 -470 -460 | -440 -430

ggtgg caggc cgggc catgg tgggt gctca cgccc ccggc atgtg gccgc cctca gtggg agggg ctctg agaac

ccacc gtccg gcccg gtacc accca cgagt gcggg ggccg tacac cggcg ggagt caccc tcccc gagac tcttg


TATA-box (25)

-420 -410 -400 -390 -380 -370 -360

gactt tttaa aacgc agaga aaagc tccat tcttc ccagg acctc agcgc agccc tggcc cagga aggca ggaga

ctgaa aaatt ttgcg tctct tttcg aggta agaag ggtcc tggag tcgcg tcggg accgg gtcct tccgt cctct


-350 -340 -330 -320 -310 -300 -290 -280

cagag gccag gacgg tccag aggtg tcgaa atgtc ctggg gacct gagca gcagc cacca gggaa gaggc aggga

gtctc cggtc ctgcc aggtc tccac agctt tacag gaccc ctgga ctcgt cgtcg gtggt ccctt ctccg tccct
-270 -260 -250 -240 -230 -220 -210

gggag ctgag gacca ggctt ggttg tgaga atccc tgagc ccagg cggta gatgc cagga ggtgt ctgga ctggc

ccctc gactc ctggt ccgaa ccaac actct taggg actcg ggtcc gccat ctacg gtcct ccaca gacct gaccg
-200 -190 -180 -170 -160 -150 -140 -130

tgggc catgc ctggg ctgac ctgtc cagcc aggga gaggg tgtga gggca gatct ggggg tgccc agatg gaagg

acccg gtacg gaccc gactg gacag gtcgg tccct ctccc acact cccgt ctaga ccccc acggg tctac cttcc
-120 -110 -100 -90 -80 -70 -60

aggca ggcat ggggg acacc caagg ccccc tggca gcacc atgaa ctaag cagga cacct ggagg ggaag aactg

tccgt ccgta ccccc tgtgg gttcc ggggg accgt cgtgg tactt gattc gtcct gtgga cctcc ccttc ttgac
-50 -40 -30 -20 -10 1 15

|------------------------> MC1a

tgggg acctg gaggc ctcca acgac tcctt cctgc ttcct ggaca ggact ATG GCT GTG CAG GGA TCC CAG

acccc tggac ctccg gaggt tgctg aggaa ggacg aagga cctgt cctga TAC CGA CAC GTC CCT AGG GTC

Met Ala Val Gln Gly Ser Gln

M A V Q G S Q

1 5
(28,23,12) insA

G=Ala (15,18,9) T=Gly (10) |

30 45 | 60 | |

AGA AGA CTT CTG GGC TCC CTC AAC TCC ACC CCC ACA GCC ATC CCC CAG CTG GGG CTG GCT GCC AAC

TCT TCT GAA GAC CCG AGG GAG TTG AGG TGG GGG TGT CGG TAG GGG GTC GAC CCC GAC CGA CGG TTG

Arg Arg Leu Leu Gly Ser Leu Asn Ser Thr Pro Thr Ala Ile Pro Gln Leu Gly Leu Ala Ala Asn

R R L L G S L N S T P T A I P Q L G L A A N

10 15 20 25


A=Tyr (18,19) G=Val (18,19)

| A=Met(18,19) | C=Leu(10,18) (18,5)A=Leu

| | C=Thr (6,9) | | T=Ile (5,18) |

90 | | | | | | |

CAG ACA GGA GCC CGG TGC CTG GAG GTG TCC ATC TCT GAC GGG CTC TTC CTC AGC CTG GGG CTG GTG

GTC TGT CCT CGG GCC ACG GAC CTC CAC AGG TAG AGA CTG CCC GAG AAG GAG TCG GAC CCC GAC CAC

Gln Thr Gly Ala Arg Cys Leu Glu Val Ser Ile Ser Asp Gly Leu Phe Leu Ser Leu Gly Leu Val

Q T G A R C L E V S I S D G L F L S L G L V

30 35 40 45 50
T=Leu (1,2,6-9,10,13,14,15,18,20,23,26,28)

| T=Ser (4,9,24)

| | T=Asn (2)

| | | A=Gln (9,17-19)

165 | | | | 210

AGC TTG GTG GAG AAC GCG CTG GTG GTG GCC ACC ATC GCC AAG AAC CGG AAC CTG CAC TCA CCC ATG

TCG AAC CAC CTC TTG CGC GAC CAC CAC CGG TGG TAG CGG TTC TTG GCC TTG GAC GTG AGT GGG TAC

Ser Leu Val Glu Asn Ala Leu Val Val Ala Thr Ile Ala Lys Asn Arg Asn Leu His Ser Pro Met

S L V E N A L V V A T I A K N R N L H S P M

55 60 65 70


C=Pro (9,15,18)

| C=Pro (1,9,18)

| |T=Leu (18)

| || A=Glu (2,7,9,4,15,20,18,22,23,29)

| || | T=Val (10)

| || | | (15,18,19,4) Met=T

| || | | G=Asp (9) |

| || | | | C=Leu (24) |

| || | | | A=Met (2,4,6 |

| || | | | | 7,9,10,15,18,

| || | | | | 20,23,28) |

A=Tyr (4,9,24) | || | | | | G=Arg(9)|

225 | 240 | || | 255 | 270 | | | |

TAC TGC TTC ATC TGC TGC CTG GCC TTG TCG GAC CTG CTG GTG AGC GGG AGC AAC GTG CTG GAG ACG

ATG ACG AAG TAG ACG ACG GAC CGG AAC AGC CTG GAC GAC CAC TCG CCC TCG TTG CAC GAC CTC TGC

Tyr Cys Phe Ile Cys Cys Leu Ala Leu Ser Asp Leu Leu Val Ser Gly Ser Asn Val Leu Glu Thr

Y C F I C C L A L S D L L V S G S N V L E T

75 80 85 90 95


T=Val (1,4)

A=Ile (4,9,24) |T=Ala (5,18)

| || A=Ser (9,15,29)

| || | A=Gln (4,9,18,28,29)T=Val (18) (10) Asp=T

| A=Ile (5,18) || | |A=Leu (5,9,18) ||------------------------

| | 300 || | 315 || 330 | 345 |

GCC GTC ATC CTC CTG CTG GAG GCC GGT GCA CTG GTG GCC CGG GCT GCG GTG CTG CAG CAG CTG GAC

CGG CAG TAG GAG GAC GAC CTC CGG CCA CGT GAC CAC CGG GCC CGA CGC CAC GAC GTC GTC GAC CTG

Ala Val Ile Leu Leu Leu Glu Ala Gly Ala Leu Val Ala Arg Ala Ala Val Leu Gln Gln Leu Asp

A V I L L L E A G A L V A R A A V L Q Q L D

100 105 110 115
C=Thr (10,17-19)

| G=Glu (10)

| | A=Met (9,6,7,9,18)

--> MC1Ria| | | C=Val (18,19)

| | | | 390 405

AAT GTC ATT GAC GTG ATC ACC TGC AGC TCC ATG CTG TCC AGC CTC TGC TTC CTG GGC GCC ATC GCC

TTA CAG TAA CTG CAC TAG TGG ACG TCG AGG TAC GAC AGG TCG GAG ACG AAG GAC CCG CGG TAG CGG

Asn Val Ile Asp Val Ile Thr Cys Ser Ser Met Leu Ser Ser Leu Cys Phe Leu Gly Ala Ile Ala

N V I D V I T C S S M L S S L C F L G A I A

120 125 130 135


T=Cys (1-3,7,9,10,13,14,15,16,18,19,20,23,26-28)

| C=Thr(1,2,7,9,10,14,15,18,20,23)

| | (1,2,7,9,13-18) T=Trp (20,23,

| T=Arg (9,10,15)| T=Leu (db) |26)

A=His(1,2,7,9,10,13,15,18,20,23,26)| | | | C=Leu(10) |Gln (18)

| T=Tyr (30)| | A=ter (1,9 | | | X=Leu ||

420 | 435 | 450 | | |10,18,23) | | | (9) ||

GTG GAC CGC TAC ATC TCC ATC TTC TAC GCA CTG CGC TAC CAC AGC ATC GTG ACC CTG CCG CGG GCG

CAC CTG GCG ATG TAG AGG TAG AAG ATG CGT GAC GCG ATG GTG TCG TAG CAC TGG GAC GGC GCC CGC

<----------

Val Asp Arg Tyr Ile Ser Ile Phe Tyr Ala Leu Arg Tyr His Ser Ile Val Thr Leu Pro Arg Ala

V D R Y I S I F Y A L R Y H S I V T L P R A

140 145 150 155 160

AAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA
T=ter (10)

|A=Gln (2,7,9,10,13,15,17,18,20,26)

|| insG (10)

|| G=Gly(db)

|| |A=Ala (18)

|| || T=Ile (5,18)

|| || | A=Asp (1,9,18)

|| || | | del (15) insC (12,23,28)

|| || | | | | A=Ile (9,15,18) | Tyr=T (18,15)

|| 495 || | 510 | |-| | 525 |540 |

CGG CGA GCC GTT GCG GCC ATC TGG GTG GCC AGT GTC GTC TTC AGC ACG CTC TTC ATC GCC TAC TAC

GCC GCT CGG CAA CGC CGG TAG ACC CAC CGG TCA CAG CAG AAG TCG TGC GAG AAG TAG CGG ATG ATG

-------------| MC1Rib

Arg Arg Ala Val Ala Ala Ile Trp Val Ala Ser Val Val Phe Ser Thr Leu Phe Ile Ala Tyr Tyr

R R A V A A I W V A S V V F S T L F I A Y Y

165 170 175 180


A=Asn (29)

| A=Met (10) C=Leu (5,18,29) (10) Met =A

| 555 | 570 585 | 600 615 |

GAC CAC GTG GCC GTC CTG CTG TGC CTC GTG GTC TTC TTC CTG GCT ATG CTG GTG CTC ATG GCC GTG

CTG GTG CAC CGG CAG GAC GAC ACG GAG CAC CAG AAG AAG GAC CGA TAC GAC CAC GAG TAC CGG CAC

Asp His Val Ala Val Leu Leu Cys Leu Val Val Phe Phe Leu Ala Met Leu Val Leu Met Ala Val

D H V A V L L C L V V F F L A M L V L M A V

185 190 195 200 205


A=Leu (db) A=Thr (10)

| T=Trp (10,18,19) | T=Gly (18) A=Gln (10)

630 | | 645 | | | 675

CTG TAC GTC CAC ATG CTG GCC CGG GCC TGC CAG CAC GCC CAG GGC ATC GCC CGG CTC CAC AAG AGG

GAC ATG CAG GTG TAC GAC CGG GCC CGG ACG GTC GTG CGG GTC CCG TAG CGG GCC GAG GTG TTC TCC

Leu Tyr Val His Met Leu Ala Arg Ala Cys Gln His Ala Gln Gly Ile Ala Arg Leu His Lys Arg

L Y V H M L A R A C Q H A Q G I A R L H K R

210 215 220 225


A=Gln (18)

| A=Leu (9,15,18)

| |A=Pro (9,15,18)

| || A=Gln (5,9,10,15,18,20)

| || | T=Gly (db)

| || | | C=Ala (18)

| || | | | (18) Val=T

| || | 705 | | 735 |

CAG CGC CCG GTC CAC CAG GGC TTT GGC CTT AAA GGC GCT GTC ACC CTC ACC ATC CTG CTG GGC ATT

GTC GCG GGC CAG GTG GTC CCG AAA CCG GAA TTT CCG CGA CAG TGG GAG TGG TAG GAC GAC CCG TAA

Gln Arg Pro Val His Gln Gly Phe Gly Leu Lys Gly Ala Val Thr Leu Thr Ile Leu Leu Gly Ile

Q R P V H Q G F G L K G A V T L T I L L G I

230 235 240 245
T=Ile (9,15,18)

T=Ser (1,9) | G=Val (5,18)

| C=Pro (9,15,18) | | G=Arg (30)

750 765 | | | | | 810

TTC TTC CTC TGC TGG GGC CCC TTC TTC CTG CAT CTC ACA CTC ATC GTC CTC TGC CCC GAG CAC CCC

AAG AAG GAG ACG ACC CCG GGG AAG AAG GAC GTA GAG TGT GAG TAG CAG GAG ACG GGG CTC GTG GGG

Phe Phe Leu Cys Trp Gly Pro Phe Phe Leu His Leu Thr Leu Ile Val Leu Cys Pro Glu His Pro

F F L C W G P F F L H L T L I V L C P E H P

250 255 260 265 270
T=Met (db) G=Glu (9,10,15,18,19)

| T=Cys (9,18) | G=Ser (15)

| | A=Ser (10) | | A=Lys (15,18,19) G=Met (9)

| | | 825 | | 840 855 | 870

ACG TGC GGC TGC ATC TTC AAG AAC TTC AAC CTC TTT CTC GCC CTC ATC ATC TGC AAT GCC ATC ATC

TGC ACG CCG ACG TAG AAG TTC TTG AAG TTG GAG AAA GAG CGG GAG TAG TAG ACG TTA CGG TAG TAG

Thr Cys Gly Cys Ile Phe Lys Asn Phe Asn Leu Phe Leu Ala Leu Ile Ile Cys Asn Ala Ile Ile

T C G C I F K N F N L F L A L I I C N A I I

275 280 285 290
C=His (1,2,4,7,9,10,13,14,15,16,18,20,23,26,28)

| A=Thr (2,9) (28,20-18,10,9,5) G=Thr

| | T=Phe (5,9,18,28) T=Met (18) |

| 885 | | 915 | 930 | 945

GAC CCC CTC ATC TAC GCC TTC CAC AGC CAG GAG CTC CGC AGG ACG CTC AAG GAG GTG CTG ACA TGC

CTG GGG GAG TAG ATG CGG AAG GTG TCG GTC CTC GAG GCG TCC TGC GAG TTC CTC CAC GAC TGC ACG

Asp Pro Leu Ile Tyr Ala Phe His Ser Gln Glu Leu Arg Arg Thr Leu Lys Glu Val Leu Thr Cys

D P L I Y A F H S Q E L R R T L K E V L T C

295 300 305 310 315

AAAAAAAAAAA


T=Ser (9,10) a (28)

| 954 964 | 974 984 994 1004 1014

TCC TGG TGA gcgcg gtgca cgcgg cttta agtgt gctgg gcaga gggag gtggt gatat tgtgt ggtct ggttc

AGG ACC ACT cgcgc cacgt gcgcc gaaat tcaca cgacc cgtct ccctc cacca ctata acaca ccaga ccaag



<----------------------| MC1b

Ser Trp ter

S W X

317
(28)g



1024 1034 1044 1054 1064 1074 1084 |

ctgtg tgacc ctggg cagtt cctta cctcc ctggt ccccg tttgt caaag aggat ggact aaatg atctc tgaaa

gacac actgg gaccc gtcaa ggaat ggagg gacca ggggc aaaca gtttc tccta cctga tttac tagag acttt
a (28)

1104 | 1124 1134 1144 1154 1164 1174

gtgtt gaagc gcgga ccctt ctggg tccag ggagg ggtcc ctgca aaact ccagg cagga cttct cacca gcagt

cacaa cttcg cgcct gggaa gaccc aggtc cctcc ccagg gacgt tttga ggtcc gtcct gaaga gtggt cgtca


1184 1194 1204 1214 1224 1234 1244

cgtgg ggaac ggagg aggac atggg gaggt tgtgg ggcct caggc tccgg gcacc agggg ccaac ctcag gctcc

gcacc ccttg cctcc tcctg taccc ctcca acacc ccgga gtccg aggcc cgtgg tcccc ggttg gagtc cgagg
1254 1264 1274 1284 1294 1304 1314 1324

taaag agaca ttttc cgccc actcc tggga cactc cgtct gctcc aatga ctgag cagca tccac cccac cccat

atttc tctgt aaaag gcggg tgagg accct gtgag gcaga cgagg ttact gactc gtcgt aggtg gggtg gggta
1334 1344 1354 1364 1374 1384 1394

ctttg ctgcc agctc tcagg accgt gccct cgtca gctgg gatgt gaagt ctctg ggtgg aagtg tgtgc caaga

gaaac gacgg tcgag agtcc tggca cggga gcagt cgacc ctaca cttca gagac ccacc ttcac acacg gttct
1404 1414 1424 1434 1444 1454 1464 1474

gctac tccca cagca gcccc aggag aaggg gcttt gtgac cagaa agctt catcc acagc cttgc agcgg ctcct

cgatg agggt gtcgt cgggg tcctc ttccc cgaaa cactg gtctt tcgaa gtagg tgtcg gaacg tcgcc gagga
a (28)

1484 1494 1504 1514 1524 1534 |

gcaaa aggag gtgaa atccc tgcct caggc caagg gacca ggttt gcagg agccc cccta gtggt atggg gctga

cgttt tcctc cactt taggg acgga gtccg gttcc ctggt ccaaa cgtcc tcggg gggat cacca taccc cgact


1554 1564 1574 1584 1594 1604 1614 1624

gccct cctga gggcc ggttc taagg ctcag actgg gcact ggggc ctcag cctgc tttcc tgcag cagtc gccca

cggga ggact cccgg ccaag attcc gagtc tgacc cgtga ccccg gagtc ggacg aaagg acgtc gtcag cgggt
1634 1644 1654 1664 1674 1684 1694

agcag acagc cctgg caaat gcctg actca gtgac cagtg cctgt gagca tgggg ccagg aaagt ctggt aataa

tcgtc tgtcg ggacc gttta cggac tgagt cactg gtcac ggaca ctcgt acccc ggtcc tttca gacca ttatt
1704 1714 1724 1734 1744 1754 1764

atgtg actca gcatc accca cctta aaaaa aaaaa aaaaa aaaaa aaaaa aaaaa aaaaa aaaaa

tacac tgagt cgtag tgggt ggaat ttttt ttttt ttttt ttttt ttttt ttttt ttttt ttttt
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=4157

References:

(1)=[1]

(2)=[2]

(3)=[3]

(4)=[4]

(5)=[5]

(6)=[6]

(7)=[7]

(8)=[8]

(9)=[9]

(10)=[10]

(11)=[11]

(12)=[12]

(13)=[13]

(14)=[14]

(15)=[15]

(16)=[16]

(17)=[17]

(18)=[18]

(19)=[19]

(20)=[20]

(21)=[21]

(22)=[22]

(23)=[23]

(24)=[24]

(25)=[25]

(26)=[26]

(27)=[27]

(28)=[28]

(29)=[29]

(30)=[30]


 1. John,P.R. and Ramsay,M. Four novel variants in MC1R in red-haired South African individuals of European descent: S83P, Y152X, A171D, P256S. 2002; Hum.Mutat. 19: 461-462.


PMID: 11933208

2. Box,N.F., Wyeth,J.R., O'Gorman,L.E., Martin,N.G., and Sturm,R.A. Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. 1997; Hum.Mol.Genet. 6: 1891-1897.


PMID: 9302268

3. Rana,B.K., Hewett-Emmett,D., Jin,L., Chang,B.H., Sambuughin,N., Lin,M., Watkins,S., Bamshad,M., Jorde,L.B., Ramsay,M., Jenkins,T., and Li,W.H. High polymorphism at the human melanocortin 1 receptor locus. 1999; Genetics. 151: 1547-1557.


PMID: 10101176

4. Valverde,P., Healy,E., Jackson,I., Rees,J.L., and Thody,A.J. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. 1995; Nat.Genet. 11: 328-330.


PMID: 7581459

5. John,P.R., Makova,K., Li,W.H., Jenkins,T., and Ramsay,M. DNA polymorphism and selection at the melanocortin-1 receptor gene in normally pigmented southern African individuals. 2003; Ann.N.Y.Acad.Sci. 994:299-306.: 299-306.


PMID: 12851329

6. Jimenez-Cervantes,C., Germer,S., Gonzalez,P., Sanchez,J., Sanchez,C.O., and Garcia-Borron,J.C. Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor. 2001; FEBS Lett. 508: 44-48.


PMID: 11707265

7. Beaumont,K.A., Newton,R.A., Smit,D.J., Leonard,J.H., Stow,J.L., and Sturm,R.A. Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. 2005; Hum.Mol.Genet. 14: 2145-2154.


PMID: 15972726

8. King,R.A., Willaert,R.K., Schmidt,R.M., Pietsch,J., Savage,S., Brott,M.J., Fryer,J.P., Summers,C.G., and Oetting,W.S. MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2). 2003; Am.J.Hum.Genet. 73: 638-645.


PMID: 12876664

9. Ringholm,A., Klovins,J., Rudzish,R., Phillips,S., Rees,J.L., and Schiöth,H.B. Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair. 2004; J Invest Dermatol. 123: 917-923.


PMID: 15482480

10. Scherer,D., Bermejo,J.L., Rudnai,P., Gurzau,E., Koppova,K., Hemminki,K., and Kumar,R. MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism. 2008; Int.J.Cancer. 122: 1787-1793.


PMID: 18067130

11. Stokowski,R.P., Pant,P.V., Dadd,T., Fereday,A., Hinds,D.A., Jarman,C., Filsell,W., Ginger,R.S., Green,M.R., van der Ouderaa,F.J., and Cox,D.R. A genomewide association study of skin pigmentation in a South Asian population. 2007; Am.J.Hum.Genet. 81: 1119-1132.


PMID: 17999355

12. Beaumont,K.A., Shekar,S.N., Cook,A.L., Duffy,D.L., and Sturm,R.A. Red hair is the null phenotype of MC1R. 2008; Hum.Mutat. 29: E88-E94


PMID: 18484624

13. Schiöth,H.B., Phillips,S.R., Rudzish,R., Birch-Machin,M.A., Wikberg,J.E., and Rees,J.L. Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair. 1999; Biochem.Biophys.Res.Commun. 260: 488-491.


PMID: 10403794

14. Smith,R., Healy,E., Siddiqui,S., Flanagan,N., Steijlen,P.M., Rosdahl,I., Jacques,J.P., Rogers,S., Turner,R., Jackson,I.J., Birch-Machin,M.A., and Rees,J.L. Melanocortin 1 receptor variants in an Irish population. 1998; J Invest Dermatol. 111: 119-122.


PMID: 9665397

15. Bastiaens,M.T., ter Huurne,J.A., Kielich,C., Gruis,N.A., Westendorp,R.G., Vermeer,B.J., and Bavinck,J.N. Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. 2001; Am.J.Hum.Genet. 68: 884-894.


PMID: 11254446

16. Kadekaro,A.L., Kanto,H., Kavanagh,R., and Abdel-Malek,Z.A. Significance of the melanocortin 1 receptor in regulating human melanocyte pigmentation, proliferation, and survival. 2003; Ann.N.Y.Acad.Sci. 994:359-65.: 359-365.


PMID: 12851336

17. Na,G.Y., Lee,K.H., Kim,M.K., Lee,S.J., Kim,d.W., and Kim,J.C. Polymorphisms in the melanocortin-1 receptor (MC1R) and agouti signaling protein (ASIP) genes in Korean vitiligo patients. 2003; Pigment Cell Res. 16: 383-387.


PMID: 12859622

18. Savage,S.A., Gerstenblith,M.R., Goldstein,A.M., Mirabello,L., Fargnoli,M.C., Peris,K., and Landi,M.T. Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R. 2008; BMC.Genet. 9:31.: 31


PMID: 18402696

19. Fargnoli,M.C., Chimenti,S., Keller,G., Hofler,H., and Peris,K. Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population. 2003; Hum.Mutat. 21: 655


PMID: 14961558

20. Kanetsky,P.A., Ge,F., Najarian,D., Swoyer,J., Panossian,S., Schuchter,L., Holmes,R., Guerry,D., and Rebbeck,T.R. Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach. 2004; Cancer Epidemiol.Biomarkers Prev. 13: 808-819.


PMID: 15159314

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