Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype

Annals of Human Genetics

Volumn 73, Issue 2, 2009, Pages 160-170

  Branicki, Wojciech ^a   Brudnik, Urszula ^b   Wojas Pelc, Anna ^b  

^a INSTITUTE OF FORENSIC RESEARCH   (Poland)

^b JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

Author keywords

Gene geneinteractions; HERC2; MC1R; OCA2; Phenotypeprediction; Pigmentation

Indexed keywords

BINDING PROTEIN; MELANOCORTIN 1 RECEPTOR; PROTEIN HERC2; PROTEIN OCA2; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; EYE COLOR; FEMALE; GENE INTERACTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRAIT; GENETIC VARIABILITY; HAIR GROWTH; HUMAN; MALE; PHENOTYPE; PIGMENTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; SKIN COLOR;

AGOUTI SIGNALING PROTEIN; ANTIGENS, NEOPLASM; EPISTASIS, GENETIC; EYE COLOR; FEMALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HAIR COLOR; HUMANS; LOGISTIC MODELS; MALE; MEMBRANE TRANSPORT PROTEINS; POLAND; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, MELANOCORTIN, TYPE 1; SKIN PIGMENTATION;

NEMOPHILA; PSEUDOMUGILIDAE;

EID: 60549085065     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2009.00504.x     Document Type: Article

References (39)

1. Akey, J. M., Wang, H., Xiong, M., Wu, H., Liu, W., Shriver, M. D. & Jin, L. (2001) Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. Hum Genet 108, 516-520.
2. Bennett, D. C. & Lamoreux, M. L. (2003) The color loci of mice -a genetic century. Pigment Cell Res 16, 333-344.
3. Branicki, W., Brudnik, U., Kupiec, T., Wolańska-Nowak, P., Szczerbińska, A. & Wojas-Pelc, A. (2008a) Association of polymorphic sites in the OCA2 gene with eye colour using the tree scanning method. Ann Hum Genet 72, 184-192.
4. Branicki, W., Brudnik, U., Draus-Barini, J., Kupiec, T. & Wojas-Pelc, A. (2008b) Association of the SLC45A2 gene with physiological human hair colour variation. J Hum Genet.
5. Brudnik, U., Branicki, W., Wojas-Pelc, A. & Kanas, P. (2008) The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. Exp Dermatol, DOI:.
6. Carlborg, O. & Haley, C. S. (2004) Epistasis: Too often neglected in complex trait studies? Nat Rev Genet 5, 618-625.
7. Cordell, H. J. (2002) Epistasis: What it means, what it doesn't mean, and statistical methods to detect it in humans. Hum Mol Genet 11, 2463-2468.
8. Duffy, D. L., Montgomery, G. W., Chen, W., Zhao, Z. Z., Le, L., James, M. R., Hayward, N. K., Martin, N. G. & Sturm, R. A. (2007) A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am J Hum Genet 80, 241-252.
9. Eiberg, H., Troelsen, J., Nielsen, M., Mikkelsen, A., Mengel-From, J., Kjaer, K. W. & Hansen, L. (2008) Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Hum Genet 123, 177-187.
10. Excoffier, L., Laval, G. & Schneider, S. (2005) Arlequin ver 30: An integrated software package for population genetics data analysis. Evolutionary Bioinformatics Online 1, 47-50.
11. Fernandez, L. P., Milne, R. L., Pita, G., Avilés, J. A., Lázaro, P., Benítez, J. & Ribas, G. (2008) SLC45A2: A novel malignant melanoma-associated gene. Hum Mutat 29, 1161-1167.
12. Fitzpatrick, T. B. (1988) The validity and practicability of sun-reactive skin types I through VI. Arch Dermatol 124, 869-871.
13. Frudakis, T., Thomas, M., Gaskin, Z., Venkateswarlu, K., Chandra, K. S., Ginjupalli, S., Gunturi, S., Natrajan, S., Ponnuswamy, V. K. & Ponnuswamy, K. N. (2003) Sequences associated with human iris pigmentation. Genetics 165, 2071-2083.
14. Frudakis, T. (2008) Molecular photofitting. Predicting ancestry and phenotype using DNA. Academic Press.
15. Graf, J., Hodgson, R. & van Daal, A. (2005) Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Hum Mutat 25, 278-284.
16. Hahn, L. W., Ritchie, M. D. & Moore, J. H. (2003) Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions. Bioinformatics 19, 376-382.
17. Han, J., Kraft, P., Nan, H., Guo, Q., Chen, C., Qureshi, A., Hankinson, S. E., Hu, F. B., Duffy, D. L., Zhao, Z. Z., Martin, N. G., Montgomery, G. W., Hayward, N. K., Thomas, G., Hoover, R. N., Chanock, S. & Hunter, D. J. (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet 4, e1000074.
18. Jablonski, N. (2004) The evolution of human skin and skin color. Annu Rev Anthropol 33, 585-623.
19. Ji, Y., Rebert, N. A., Joslin, J. M., Higgins, M. J., Schultz, R. A. & Nicholls, R. D. (2000) Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human. Genome Res 10, 319-329.
20. Kayser, M., Liu, F., Janssens, A. C., Rivadeneira, F., Lao, O., van Duijn, K., Vermeulen, M., Arp, P., Jhamai, M. M., van Ijcken, W. F., den Dunnen, J. T., Heath, S., Zelenika, D., Despriet, D. D., Klaver, C. C., Vingerling, J. R., de Jong, P. T., Hofman, A., Aulchenko, Y. S., Uitterlinden, A. G., Oostra, B. A. & van Duijn, C. M. (2008) Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet 82, 411-423.
21. Lee, S. T., Nicholls, R. D., Jong, M. T., Fukai, K. & Spritz, R. A. (1995) Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26, 354-363.
22. Moore, J. H. (2003) The ubiquitous nature of epistasis in determining susceptibility to common human diseases. Hum Hered 56, 73-82.
23. Moore, J. H. (2004) Computational analysis of gene-gene interactions using multifactor dimensionality reduction. Expert Rev Mol Diagn 4, 795-803.
24. Musani, S. K., Shriner, D., Liu, N., Feng, R., Coffey, C. S., Yi, N., Tiwari, H. K. & Allison, D. B. (2007) Detection of gene x gene interactions in genome-wide association studies of human population data. Hum Hered 63, 67-84.
25. Nicholls, R. D. & Knepper, J. L. (2001) Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet 2, 153-175.
26. Oetting, W. S., Garrett, S. S., Brott, M. & King, R. A. (2005) P gene mutations associated with oculocutaneous albinism type II (OCA2). Hum Mutat 25, 323-329.
27. Pastorino, L., Cusano, R., Bruno, W., Lantieri, F., Origone, P., Barile, M., Gliori, S., Shepherd, G. A., Sturm, R. A. & Bianchi-Scarra, G. (2004) Novel MC1R variants in Ligurian melanoma patients and controls. Hum Mutat 24, 103.
28. Rebbeck, T. R., Kanetsky, P. A., Walker, A. H., Holmes, R., Halpern, A. C., Schuchter, L. M., Elder, D. E. & Guerry, D. (2002) P gene as an inherited biomarker of human eye color. Cancer Epidemiol Biomarkers Prev 11, 782-784.
29. Rees, J. L. (2003) Genetics of hair and skin color. Annu Rev Genet 37, 67-90.
30. Rees, J. L. (2004) The genetics of sun sensitivity in humans. Am J Hum Genet 75, 739-751.
31. Ritchie, M. D., Hahn, L. W., Roodi, N., Bailey, L. R., Dupont, W. D., Parl, F. F. & Moore, J. H. (2001) Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am J Hum Genet 69, 138-147.
32. Stephens, M., Smith, N. J. & Donnelly, P. (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68, 978-989.
33. Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., Jakobsdottir, M., Steinberg, S., Pálsson, S., Jonasson, F., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K. R., Aben, K. K., Kiemeney, L. A., Olafsson, J. H., Gulcher, J., Kong, A., Thorsteinsdottir, U., Stefansson, K. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet 39, 1443-1452.
34. Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Jakobsdottir, M., Steinberg, S., Gudjonsson, S. A., Palsson, A., Thorleifsson, G., Pálsson, S., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K. R., Aben, K. K., Vermeulen, S. H., Goldstein, A. M., Tucker, M. A., Kiemeney, L. A., Olafsson, J. H., Gulcher, J., Kong, A., Thorsteinsdottir, U. & Stefansson, K. (2008) Two newly identified genetic determinants of pigmentation in Europeans. Nat Genet 40, 835-837.
35. Sturm, R. A., Duffy, D. L., Zhao, Z. Z., Leite, F. P., Stark, M. S., Hayward, N. K., Martin, N. G. & Montgomery, G. W. (2008) A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am J Hum Genet 82, 424-431.
36. Tully, G. (2007) Genotype versus phenotype. Forensic Sci Int: Genetics 1, 105-110.
37. Vermeulen, S. H., Den Heijer, M., Sham, P. & Knight, J. (2007) Application of multi-locus analytical methods to identify interacting loci in case-control studies. Ann Hum Genet 71, 689-700.
38. Walkowicz, M., Ji, Y., Ren, X., Horsthemke, B., Russell, L. B., Johnson, D., Rinchik, E. M., Nicholls, R. D. & Stubbs, L. (1999) Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice. Mamm Genome 10, 870-878.
39. Zhu, G., Evans, D. M., Duffy, D. L., Montgomery, G. W., Medland, S. E., Gillespie, N. A., Ewen, K. R., Jewell, M., Liew, Y. W., Hayward, N. K., Sturm, R. A., Trent, J. M. & Martin, N. G. (2004) A genome scan for eye color in 502 twin families: Most variation is due to a QTL on chromosome 15q. Twin Res 7, 197-210.