Forensic Science International: Genetics
Volume 1, Issue 2 , Pages 105-110 , June 2007

Genotype versus phenotype: Human pigmentation

  • Gillian Tully

      Affiliations

    • Corresponding Author InformationTel.: +44 121 329 5471; fax: +44 121 622 2051.

Received 24 January 2007 ,Accepted 27 January 2007.

References 

  1. Sturm RA, Box NF, Ramsey M. Human pigmentation genetics: the difference is only skin deep. BioEssays. 1998;20:712–721
  2. Sturm RA. A golden age of human pigmentation genetics. Trends Genet. 2006;22:464–468
  3. Busca R, Ballotti R. Cyclic AMP a key messenger in the regulation of skin pigmentation. Pigment Cell Res. 2000;13:60–69
  4. Goding CR. Mitf from neural crest to melanoma: signal transduction and transcription in the melanocyte lineage. Genes Dev. 2000;14:1712–1728
  5. Marks MS, Seabra MC. The melanosome: membrane dynamics in black and white. Nat. Rev. Mol. Cell Biol. 2001;2:738–748
  6. Ito S. The IFPCS presidential lecture: a chemist's view of melanogenesis. Pigment Cell Res. 2003;16:230–236
  7. Theos AC, Truschel ST, Raposo G, Marks MS. The Silver locus product Pmel17/gp100/Silv/ME20: controversial in name and in function. Pigment Cell Res. 2005;18:322–336
  8. Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, et al. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am. J. Hum. Genet. 2001;69:981–988
  9. Lee ST, Nicholls RD, Jong MT, Fukai K, Spritz RA. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics. 1995;26:354–363
  10. Lamason RA, Mohideen M-APK, Mest JR, et al. SLC24A5, a putative cation exchanger, affects pigmentation in Zebrafish and humans. Science. 2005;310:1782–1786
  11. Bennett DC, Lamoreux ML. The color loci of mice—a genetic century. Pigment Cell Res. 2003;16:333–344
  12. Valverde P, Healy E, Jackson I, Rees JL, Thody AJ. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat. Genet. 1995;11:328–330
  13. Naysmith L, Waterston K, Ha T, Flanagan N, Bisset Y, Ray A, et al. Quantitative measures of the effect of the melanocortin 1 receptor on human pigmentary status. J. Invest. Dermatol. 2004;122:423–428
  14. Box NF, Wyeth JR, O’Gorman LE, Martin NG, Sturm RA. Characterisation of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Hum. Mol. Genet. 1997;6:1891–1897
  15. Healy E, Jordan SA, Budd PS, Suffolk R, Rees JL, Jackson IJ. Functional variation of MC1R alleles from red-haired individuals. Hum. Mol. Genet. 2001;10:2397–2402
  16. Beaumont KA, Newton RA, Smit DJ, Leonard JH, Stow JL, Sturm RA. Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. Hum. Mol. Genet. 2005;14:2145–2154
  17. Shriver MD, Parra EJ, Dios S, Bonilla C, Norton H, Jovel C, et al. Skin pigmentation, biogeographical ancestry and admixture mapping. Hum. Genet. 2003;112:387–399
  18. McKenzie CA, Harding RM, Brown Tomlinson J, Ray AJ, Wakamatsu K, Rees JL. Phenotypic expression of melanocortin-1 receptor mutations in black Jamaicans. J. Invest. Dermatol. 2003;121:207–208
  19. Frudakis T, Thomas M, Gaskin Z, Venkateswarlu K, Chandra KS, Ginjupalli S, et al. Sequences associated with human iris pigmentation. Genetics. 2003;165:2071–2083
  20. Voisey J, Box NF, van Daal A. A polymorphism study of the human Agouti gene and its association with MC1R. Pigment Cell Res. 2001;14:264–267
  21. Kanetsky PA, Swoyer J, Panossian S, Holmes R, Guerry D, Rebbeck TR. A polymorphism in the agouti signalling protein gene is associated with human pigmentation. Am. J. Hum. Genet. 2002;70:770–775
  22. Bonilla C, et al. Hum. Genet. 2005;116:402
  23. Voisey J, Comez-Cabrera Mdel C, Smit DJ, Leonard JH, Sturm RA, van Daal A. A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA. Pigment Cell Res. 2006;19:226–231
  24. Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, et al. Mutations in the human orthologue of the mouse underwhite (uw) gene underlie a new form of oculocutaneous albinism, OCA4. Am. J. Hum. Genet. 2001;69:981–988
  25. Graf J, Hodgson R, van Daal A. Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Hum. Mutat. 2005;25:278–284
  26. Duffy DL, Box NF, Chen W, Palmer JS, Montgomery GW, James MR, et al. Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Hum. Mol. Genet. 2004;13:447–461
  27. Schioth HB, Ohillips SR, Rudzish R, Birch-Mahin MA, Wikberg JE, Rees JL. Loss of function mutations of the human melanocortin 1 receptor are common and associated with red hair. Biochem. Biophys. Res. Commun. 1999;260:488–491
  28. Koppula SV, Robbins LS, Lu D, Baack E, White CR, Swanson NA, et al. Identification of common polymorphisms in the coding sequence of the human MSH receptor (MC1R) with possible biological effects. Hum. Mutat. 1997;9:30–36
  29. Ringholm A, Klovins J, Rudzish R, Phillips S, Rees JL, Schioth HB. Pharmacological characterisation of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair. J. Invest. Dermatol. 2004;123:917–923
  30. Costin GE, Valencia JC, Vieira WD, Lamoreux ML, Hearing VJ. Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. J. Cell Sci. 2003;116:3203–3212
  31. Alaluf S, Barrett K, Blount M, Carter N. Ethnic variation in tyrosinase and TYRP1 expression in photoexposed and photoprotected human skin. Pigment Cell Res. 2003;16:35–42
  32. Izagirre N, Garcia I, Junquera C, de la Rua C, Alonso S. A scan for signatures of positive selection in candidate loci for skin pigmentation in humans. Mol. Biol. Evol. 2006;23:1697–1706
  33. Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, et al. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science. 1992;257:1121–1124
  34. Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA, et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature. 1993;361:72–76
  35. Rebbeck TR, Kanetsky PA, Walker AH, Holmes R, Halpern AC, Schuchter LM, et al. P gene as an inherited biomarker of human eye color. Annu. Cancer Epidemiol. Biomark. Prev. 2002;11:782–784
  36. Werrett DJ. The new frontiers of forensics. Polic. Today. 2005;11:29–31
  37. J.P. Whitaker, F. Bates, L. Foreman, I. Evett, L. Perrin, L. McCallum, R. Pinchin, Familial searching: use of the National DNA Database® to identify potential relatives of an offender, Forensic Sci. Int., in press.
  38. Lowe AL, Urquhart AJ, Foreman LA, Evett IW. Inferring ethnic origin by means of an STR profile. Forensic Sci. Int. 2001;119:17–22
  39. Grimes EA, Noake PJ, Dixon L, Urquhart A. Sequence polymorphism in the human melanocortin 1 receptor gene as an indicator of the red hair phenotype. Forensic Sci. Int. 2001;122:124–129
  40. Human Genetics Commission, Inside Information (2002). Available from www.hgc.gov.uk/UploadDocs/DocPub/Document/insideinformation_summary.pdf.
  41. Bastiaens MT, ter Huurne JA, Kielich C, Gruis NA, Westendorp RG, Vermeer BJ, et al. Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am. J. Hum. Genet. 2001;68:884–894

PII: S1872-4973(07)00042-7

doi: 10.1016/j.fsigen.2007.01.005

Forensic Science International: Genetics
Volume 1, Issue 2 , Pages 105-110 , June 2007