OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans

Human Genetics

Volumn 131, Issue 7, 2012, Pages 1073-1080

  Quillen, Ellen E ^a,b   Bauchet, Marc ^c   Bigham, Abigail W ^d   Delgado Burbano, Miguel E ^e,f   Faust, Franz X ^g   Klimentidis, Yann C ^a   Mao, Xianyun ^h   Stoneking, Mark ^b   Shriver, Mark D ^a  

^a PENNSYLVANIA STATE UNIVERSITY   (United States)

^b MAX PLANCK INSTITUTE FOR EVOLUTIONARY ANTHROPOLOGY   (Germany)

^c UNIVERSITY OF MICHIGAN   (United States)

^d FACULTAD DE CIENCIAS NATURALES Y MUSEO   (Argentina)

^e Facultad de Ciencias Naturales e Instituto M Lillo   (Argentina)

^f UNIVERSIDAD DEL CAUCA   (Colombia)

^g UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^h SOUTHWEST FOUNDATION FOR BIOMEDICAL RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR; MU OPIATE RECEPTOR;

ARTICLE; CAUCASIAN; EUROPEAN AMERICAN; FEMALE; GENE LOCUS; GENETIC ANALYSIS; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; PRIORITY JOURNAL; RACE DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN PIGMENTATION; ULTRAVIOLET RADIATION;

ANTIGENS, NEOPLASM; ANTIPORTERS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC TESTING; GENOTYPE; HAPLOTYPES; HUMANS; INDIANS, NORTH AMERICAN; MEMBRANE TRANSPORT PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, EPIDERMAL GROWTH FACTOR; RECEPTORS, OPIOID, MU; SKIN PIGMENTATION;

EID: 84862773133     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1135-1     Document Type: Article

References (34)

1. JM Akey G Zhang K Zhang, et al. 2002 Interrogating a high-density SNP map for signatures of natural selection Genome Res 12 1805 1814 10.1101/gr.631202 12466284 10.1101/gr.631202 1:CAS:528:DC%2BD38XpsVOqtbw%3D
2. JC Barrett B Fry J Maller MJ Daly 2005 Haploview: analysis and visualization of LD and haplotype maps Bioinformatics (Oxford, England) 21 263 265 10.1093/bioinformatics/bth457 10.1093/bioinformatics/bth457 1:CAS:528:DC%2BD2MXkt1WitQ%3D%3D
3. A Bigham M Bauchet D Pinto, et al. 2010 Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data PLoS Genetics 6 14 10.1371/journal.pgen.1001116
4. PL Bigliardi DJ Tobin C Gaveriaux-Ruff M Bigliardi-Qi 2009 Opioids and the skin-where do we stand? Exp Dermatol 18 424 430 10.1111/j.1600-0625.2009. 00844.x 19382313 10.1111/j.1600-0625.2009.00844.x 1:CAS:528:DC%2BD1MXmtVOktrg%3D
5. C Bonilla EJ Parra CL Pfaff, et al. 2004 Admixture in the Hispanics of the San Luis Valley, Colorado, and its implications for complex trait gene mapping Ann Hum Genet 68 139 153 10.1046/j.1529-8817.2003.00084.x 15008793 10.1046/j.1529-8817.2003.00084.x 1:CAS:528:DC%2BD2cXjtVKls7s%3D
6. C Bonilla G Gutiérrez EJ Parra, et al. 2005 Admixture analysis of a rural population of the state of Guerrero, Mexico Am J Phys Anthropol 128 861 869 10.1002/ajpa.20227 16118786 10.1002/ajpa.20227
7. L Fejerman EM John S Huntsman, et al. 2008 Genetic ancestry and risk of breast cancer among US Latinas Cancer Res 68 9723 10.1158/0008-5472.CAN-08-2039 19047150 10.1158/0008-5472.CAN-08-2039 1:CAS:528:DC%2BD1cXhsVegtbvK
8. KR Fitch KA McGowan CD van Raamsdonk, et al. 2003 Genetics of dark skin in mice Genes Dev 17 214 228 10.1101/gad.1023703 12533510 10.1101/gad.1023703 1:CAS:528:DC%2BD3sXmtFyiuw%3D%3D
9. J Harrow F Denoeud A Frankish, et al. 2006 GENCODE: producing a reference annotation for ENCODE Genome Biol 7 Suppl 1 S4.1 S4.9 10.1186/gb-2006-7-s1-s4 10.1186/gb-2006-7-s1-s4
10. T Hirobe 2011 How are proliferation and differentiation of melanocytes regulated? Pigment Cell Melanoma Res 24 462 478 10.1111/j.1755-148X.2011.00845.x 21375698 10.1111/j.1755-148X.2011.00845.x 1:CAS:528:DC%2BC3MXos1Sgtrk%3D
11. H Ho T Milenković V Memisević, et al. 2010 Protein interaction network topology uncovers melanogenesis regulatory network components within functional genomics datasets BMC Syst Biol 4 84 10.1186/1752-0509-4-84 20550706 10.1186/1752-0509-4-84
12. CJ Hoggart MD Shriver RA Kittles, et al. 2004 Design and analysis of admixture mapping studies American J Hum Genet 74 965 978 10.1086/420855 10.1086/420855 1:CAS:528:DC%2BD2cXjvVeisLs%3D
13. NG Jablonski G Chaplin 2000 The evolution of human skin coloration J Hum Evol 39 57 106 10.1006/jhev.2000.0403 10896812 10.1006/jhev.2000.0403 1:STN:280:DC%2BD3cvgt1CmsQ%3D%3D
14. NG Jablonski G Chaplin 2010 Human skin pigmentation as an adaptation to UV radiation Proc Natl Acad Sci 107 Suppl 2 8962 8968 10.1073/pnas.0914628107 20445093 10.1073/pnas.0914628107 1:CAS:528:DC%2BC3cXmt1yiu7s%3D
15. A Johansson U Gyllesnsten 2008 Identification of local selective sweeps in human populations since the exodus from Africa Hereditas 145 126 137 10.1111/j.2008.0018-0661.02054.x 18667002 10.1111/j.0018-0661.2008.02054.x
16. M Jost C Kari U Rodeck 2000 The EGF receptor-an essential regulator of multiple epidermal functions Eur J Dermatol 10 505 510 11056418 1:CAS:528:DC%2BD3cXosVaqsr4%3D
17. WJ Kent CW Sugnet TS Furey, et al. 2002 The Human Genome Browser at UCSC Genome Res 12 996 1006 12045153 1:CAS:528:DC%2BD38Xks12hs7s%3D
18. YC Klimentidis GF Miller MD Shriver 2009 Genetic admixture, self-reported ethnicity, self-estimated admixture, and skin pigmentation among Hispanics and Native Americans Am J Phys Anthropol 138 375 383 10.1002/ajpa.20945 18951390 10.1002/ajpa.20945
19. RL Lamason M-APK Mohideen JR Mest, et al. 2005 SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans Science 310 1782 1786 10.1126/science.1116238 16357253 10.1126/science.1116238 1:CAS:528: DC%2BD2MXhtlSntb3N
20. O Lao JM de Gruijter K van Duijn, et al. 2007 Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms Ann Hum Genet 71 354 369 10.1111/j.1469-1809.2006.00341.x 17233754 10.1111/j.1469-1809.2006.00341.x 1:CAS:528:DC%2BD2sXmtlSisL0%3D
21. JZ Li DM Absher H Tang, et al. 2008 Worldwide human relationships inferred from genome-wide patterns of variation Science (New York) 319 1100 1104 10.1126/science.1153717 10.1126/science.1153717 1:CAS:528:DC%2BD1cXit1yhsbc%3D
22. S Myles K Tang M Somel, et al. 2008 Identification and analysis of genomic regions with large between-population differentiation in humans Ann Hum Genet 72 99 110 10.1111/j.1469-1809.2007.00390.x 18184145 1:CAS:528: DC%2BD1cXis1Wqu70%3D
23. HL Norton RA Kittles E Parra, et al. 2007 Genetic evidence for the convergent evolution of light skin in Europeans and East Asians Molecular Biol Evol 24 710 722 10.1093/molbev/msl203 10.1093/molbev/msl203 1:CAS:528: DC%2BD2sXjtlersrY%3D
24. JK Pickrell G Coop J Novembre, et al. 2009 Signals of recent positive selection in a worldwide sample of human populations Genome Res 19 826 837 10.1101/gr.087577.108 19307593 10.1101/gr.087577.108 1:CAS:528: DC%2BD1MXlsFyku78%3D
25. JH Relethford 1997 Hemispheric difference in human skin color Am J Phys Anthropol 104 449 457 10.1002/(SICI)1096-8644(199712)104:4<449::AID- AJPA2>3.0.CO;2-N 9453695 10.1002/(SICI)1096-8644(199712)104:4<449::AID- AJPA2>3.0.CO;2-N 1:STN:280:DyaK1c7hsVCnsg%3D%3D
26. PC Sabeti DE Reich JM Higgins, et al. 2002 Detecting recent positive selection in the human genome from haplotype structure Nature 419 832 837 10.1038/nature01140 12397357 10.1038/nature01140 1:CAS:528:DC%2BD38XovF2itbc%3D
27. PC Sabeti P Varilly B Fry, et al. 2007 Genome-wide detection and characterization of positive selection in human populations Nature 449 913 918 10.1038/nature06250 17943131 10.1038/nature06250 1:CAS:528:DC%2BD2sXhtFOjt7jK
28. Schlötterer C, Dieringer D (2005) A novel test statistic for the identification of local selective sweeps based on microsatellite gene diversity. In: Nurminsky D (ed) Selective Sweep. Kluwer Academic/Plenum Publishers, New york, pp 55-64
29. MD Shriver GC Kennedy EJ Parra, et al. 2004 The genomic distribution of population substructure in four populations using 8, 525 autosomal SNPs Human Genomics 1 274 286 15588487 1:CAS:528:DC%2BD2cXmt1yhs7c%3D
30. F Simonin C Gavériaux-Ruff K Befort, et al. 1995 kappa-Opioid receptor in humans: cDNA and genomic cloning, chromosomal assignment, functional expression, pharmacology, and expression pattern in the central nervous system Proc Natl Acad Sci USA 92 7006 7010 7624359 10.1073/pnas.92.15.7006 1:CAS:528:DyaK2MXntVSktL0%3D
31. F Tajima 1989 Statistical method for testing the neutral mutation hypothesis by DNA polymorphism Genetics 123 585 595 2513255 1:CAS:528: DyaK3cXhslentA%3D%3D
32. The International HapMap Consortium 2003 The International HapMap Project Nature 426 789 796 10.1038/nature02168 10.1038/nature02168
33. HY Thong SH Jee CC Sun R Boissy 2003 The patterns of melanosome distribution in keratinocytes of human skin as one determining factor of skin colour Br J Dermatol 149 498 505 14510981 10.1046/j.1365-2133.2003.05473.x
34. BF Voight S Kudaravalli X Wen JK Pritchard 2006 A map of recent positive selection in the human genome PLoS biology 4 e72 10.1371/journal.pbio.0040072 16494531 10.1371/journal.pbio.0040072