Phenotypic expression of melanocortin-1 receptor mutations in Black Jamaicans

Journal of Investigative Dermatology

Volumn 121, Issue 1, 2003, Pages 207-208

  McKenzie, Colin A ^a,g   Harding, Rosalind M ^b   Brown Tomlinson, Jennifer ^c   Ray, Amanda J ^d   Wakamatsu, Kazumasa ^e   Rees, Jonathan L ^f  

^a UNIVERSITY OF THE WEST INDIES   (Jamaica)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c Kingston Public Hospital   (Jamaica)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e FUJITA HEALTH UNIVERSITY   (Japan)

^f UNIVERSITY OF EDINBURGH   (United Kingdom)

^g UNIVERSITY OF THE WEST INDIES   (Jamaica)

Author keywords

[No Author keywords available]

Indexed keywords

MELANOCORTIN 1 RECEPTOR;

ARTICLE; CODON; GENE MUTATION; HAIR COLOR; HETEROZYGOTE; HUMAN; JAMAICA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SKIN COLOR;

EID: 0042844773     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2003.12314.x     Document Type: Article

References (9)

1. Flanagan N, Healy E, Ray A, et al: Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation. Hum Mol Genet 9:2531-2537, 2000
2. Harding RM, Healy E, Ray AJ, et al: Evidence for variable selective pressures at MC1R. Am J Hum Genet 66:1351-1361, 2000
3. Healy E, Flannagan N, Ray A, et al: Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair. Lancet 355:1072-1073, 2000
4. Ito S, Wakamatsu K: An improved modification of permanganate oxidation that gives constant yield of pyrrole-2,3,5-tricarboxylic acid. Pigment Cell Res 7:141-144, 1994
5. Palmer JS, Duffy DL, Box NF, et al: Melanocortin-1 receptor polymorphisms and risk of melanoma: Is the association explained solely by pigmentation phenotype? Am J Hum Genet 66:176-186, 2000
6. Sambrook J, Fritsch EF, Maniatis T (eds). Molecular Cloning: A Laboratory Manual, 2nd edn. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory, 1989
7. Schiöth HB, Phillips SR, Rudzish R, Birch-Machin MA, Wikberg JES, Rees JL: Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair. Biochem Biophys Res Commun 260:488-491, 1999
8. 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 11:328-330, 1995
9. Wakamatsu K, Ito S, Rees JL: Usefulness of 4-Amino-3-hydroxyphenylalanine as a specific marker of pheomelanin. Pigment Cell Res 15:225-232, 2002