Evidence for variable selective pressures at MC1R

American Journal of Human Genetics

Volumn 66, Issue 4, 2000, Pages 1351-1361

  Harding, Rosalind M ^a   Healy, Eugene ^b,f   Ray, Amanda J ^b   Ellis, Nichola S ^b   Flanagan, Niamh ^b   Todd, Carol ^b   Dixon, Craig ^b   Sajantila, Antti ^c   Jackson, Ian J ^d   Birch Machin, Mark A ^b   Rees, Jonathan L ^b,e  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c UNIVERSITY OF HELSINKI   (Finland)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY OF EDINBURGH   (United Kingdom)

^f UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MELANOCORTIN RECEPTOR;

AFRICA; ARTICLE; EVOLUTION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HAIR; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SKIN PIGMENTATION;

EID: 0033927855     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302863     Document Type: Article

References (43)

1. Bodmer WF, Cavalli-Sforza LL (1976) Genetics, evolution and man. WH Freeman, San Francisco
2. Bowcock AM, Kidd JR, Mountain JL, Hebert JM, Carotenuto L, Kidd KK, Cavalli-Sforza LL (1991) Drift, admixture, and selection in human evolution: a study with DNA polymorphisms. Proc Natl Acad Sci USA 88:839-843
3. Box NF, Wyeth JR, O'Gorman LE, Martin NG, Sturm RA (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Hum Mol Genet 6:1891-1897
4. Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Lane CR, et al (1999) Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 22:231-238
5. Clark AG, Weiss KM, Nickerson DA, Taylor SL, Buchanan A, Stengård J, Salomaa V, et al (1998) Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet 63: 595-612
6. Cone RD, Lu D, Koppula S, Vage DI, Klungland H, Boston B, Chen W, et al (1996) The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation. Recent Prog Horm Res 51:287-317
7. Di Rienzo A, Donnelly P, Toomajian C, Sisk B, Hill A, Petzl-Erler ML, Haines GK, et al (1998) Heterogeneity of microsatellite mutations within and between loci, and implications for human demographic histories. Genetics 148:1269-1284
8. Donnelly P, Tavaré S (1995) Coalescents and genealogical structure under neutrality. Annu Rev Genet 29:401-421
9. Eyre-Walker A, Keightley PD (1999) High genomic deleterious mutation rates in hominids. Nature 397:344-347
10. Fay JC, Wu C-I (1999) A human population bottleneck can account for the discordance between patterns of mitochondrial versus nuclear DNA variation. Mol Biol Evol 16: 1003-1005
11. SI, estimates. Hum Genet 105:567-576
12. Frändberg PA, Doufexis M, Kapas S, Chhajlani V (1998) Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor. Blochem Biophys Res Commun 245:490-492
13. Goldman N, Yang Z (1994) A codon-based model of nucleotide substitution for protein-coding DNA sequences. Mol Biol Evol 11:725-736
14. Griffiths RC, Tavaré S (1994) Ancestral inference in population genetics. Stat Sci 9:307-319
15. -(1998) The age of a mutant in a general coalescent tree. Stochastic Models 14:273-295
16. Harding RM (1999) More on the X files. Proc Natl Acad Sci USA 96:2582-2584
17. Harding RM, Fullerton SM, Griffiths RC, Bond J, Cox MJ, Schneider JA, Moulin DS, et al (1997) Archaic African and Asian lineages in the genetic ancestry of modern humans. Am J Hum Genet 60:772-789
18. Harris EE, Hey J (1999) X chromosome evidence for ancient human histories. Proc Natl Acad Sci USA 96:3320-3324
19. Hudson RR, Kreitman M, Aguade M (1987) A test of neutral molecular evolution based on nucleotide data. Genetics 116: 153-159
20. Jordan SA, Jackson IJ (1998) Melanocortin receptors and antagonists regulate pigmentation and body weight. Bioessays 20:603-606
21. Jorde LB, Bamshad M, Rogers AR (1998) Using mitochondrial and nuclear DNA markers to reconstruct human evolution. Bioessays 20:126-136
22. Kaessmann H, Heißig F, von Haeseler A, Pääbo S (1999) DNA sequence variation in a non-coding region of low recombination on the human X chromosome. Nat Genet 22:78-81
23. Kingman JFC (1982) The coalescent. Stochastic Proc Appl 13: 235-248
24. Marjoram P, Donnelly P (1994) Pairwise comparisons of mitochondrial DNA sequences in subdivided populations and implications for early human evolution. Genetics 136: 673-683
25. McDonald JH, Kreitman M (1991) Adaptive protein evolution at the Adh locus in Drosophila. Nature 351:652-654
26. Mountain JL, Cavalli-Sforza LL (1994) Inference of human evolution through cladistic analysis of nuclear DNA restriction polymorphisms. Proc Natl Acad Sci USA 91:6515-6519
27. Nielsen R, Yang Z (1998) Likelihood models for detecting positively selected amino acid sites and applications to the HIV-1 envelope gene. Genetics 148:929-936
28. Ollmann MM, Barsh GS (1999) Down-regulation of melanocortin receptor signaling mediated by the amino terminus of Agouti protein in Xenopus melanophores. J Biol Chem 274:15837-15846
29. Owens K, King M-C (1999) Genomic views of human history. Science 286:451-453
30. Quevedo WC, Holstein TJ (1998) General biology of mammalian pigmentation. In: Nordlund JJ, Boissy RE, Hearing VJ, King RA, Ortonne JP (eds) The pigmentary system: physiology and pathophysiology. Oxford University Press, New York, pp 43-58
31. Rana BK, Hewett-Emmett D, Jin L, Chang BH-J, Sambuughin N, Lin M, Watkins S, et al (1999) High polymorphism at the human melanocortin 1 receptor locus. Genetics 151: 1547-1557
32. Rees JL, Flanagan N (1999) Pigmentation, melanocortins and red hair. Q J Med 92:125-131
33. Robbins LS, Nadeau JH, Johnson KR, Kelly MA, Roselli-Rehfuss L, Baack E, Mountjoy KG, et al (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72: 827-834
34. Schiöth HB, Phillips SR, Rudzish R, Birch-Machin MA, Wikberg JES, Rees JL (1999) Loss of function mutations of the human melanocortin 1 receptor are common and associated with red hair. Biochem Biophys Res Commun 260:488-491
35. Schneider S, Kueffer J-M, Roessli D, Excoffier L (1997) ARLEQUIN: a software for population genetic data analysis, version 1.1. Genetics and Biometry Lab, Department of Anthropology, University of Geneva, Geneva
36. Smith R, Healy E, Siddiqui S, Flanagan N, Steijlen PM, Rosdahl I, Jacques JP, et al (1998) Melanocortin 1 receptor variants in an Irish population. J Invest Dermatol 111: 119-122
37. Sokal RR, Rohlf FJ (1969) Biometry. WH Freeman, San Francisco
38. Stringer C, Andrews P (1988) Genetic and fossil evidence for the origin of modern humans. Science 239:1263-1268
39. Takahata N, Satta Y, Klein J (1995) Divergence time and population size in the lineage leading to modern humans. Theor Popul Biol 48:198-221
40. Tan CP, McKee KK, Weinberg DH, MacNeil T, Palyha OC, Feighner SD, Hreniuk DL, et al (1999) Molecular analysis of a new splice variant of the human melanocortin-1 receptor. FEBS Lett 451:137-141
41. Valverde P, Healy E, Jackson I, Rees JL, Thody AJ (1995) Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet 11:328-330
42. von Haeseler A, Sajantila A, Pääbo S (1996) The genetical archaeology of the human genome. Nat Genet 14:135-140
43. Zietkiewicz E, Yotova V, Jarnik M, Korab-Laskowska M, Kidd KK, Modiano R, Scozzari R, et al (1998) Genetic structure of the ancestral population of modern humans. J Mol Evol 47:146-155