High polymorphism at the human melanocortin 1 receptor locus

Genetics

Volumn 151, Issue 4, 1999, Pages 1547-1557

  Rana, Brinda K ^a   Hewett Emmett, David ^a   Jin, Li ^a   Chang, Benny H J ^a   Sambuughin, Naymkhishing ^b   Lin, Marie ^c   Watkins, Scott ^d   Bamshad, Michael ^d   Jorde, Lynn B ^d   Ramsay, Michele ^e   Jenkins, Trefor ^e   Li, Wen Hsiung ^a,f  

^a UNIVERSITY OF TEXAS   (United States)

^b Neurology Research   (United States)

^c MACKAY MEMORIAL HOSPITAL   (Taiwan)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^e NATIONAL HEALTH LABORATORY SERVICE   (South Africa)

^f UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MELANIN; MELANOCORTIN RECEPTOR;

AMINO ACID SEQUENCE; ARTICLE; ASIAN; EVOLUTION; GENE FREQUENCY; GENE LOCUS; GENETIC POLYMORPHISM; HAIR COLOR; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIMATE; PRIORITY JOURNAL; SKIN PIGMENTATION; SPECIES DIFFERENTIATION;

AFRICAN CONTINENTAL ANCESTRY GROUP; ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CONSENSUS SEQUENCE; DNA; DNA PRIMERS; EVOLUTION, MOLECULAR; GENE FREQUENCY; HAIR COLOR; HUMANS; MOLECULAR SEQUENCE DATA; POLYMORPHISM, GENETIC; PRIMATES; RECEPTORS, CORTICOTROPIN; RECEPTORS, MELANOCORTIN; SEQUENCE HOMOLOGY, AMINO ACID; SKIN PIGMENTATION; VARIATION (GENETICS);

MAMMALIA; PAN PANISCUS; PAPIO HAMADRYAS; PONGO PYGMAEUS; PRIMATES;

EID: 0032918729     PISSN: 00166731     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (44)

1. ABDEL-MALEK, Z., V. SWOPE, I. SUZUKI, C. AKCALI, M. D. HARRIGER et al., 1995 Mitogenic and melanogenic stimulation of normal human melanocytes by melanotropic peptides. Proc. Nad. Acad. Sci. USA 92: 1789-1793.
2. BARNICOT, N. A., 1977 Pigmentation and some other morphological characters, pp. 207-219 in Human Biology: An Introduction to Human Evolution, Variation, Growth, and Ecology, Ed. 2, edited by G. A. HARRISON, J. S. WEINER, J. M. TANNER and N. A. BARNICOT. Oxford University Press, Oxford.
3. Box, N. F., J. R. WYETH, L. E. O'GORMAN, N. G. MARTIN and R. A. STURM, 1997 Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Hum. Mol. Genet. 11: 1891-1897.
4. CAVALLI-SFORZA, L. L., P. MENOZZI and A. PIAZZA, 1994a The History and Geography of Human Genes, pp. 304-308. Princeton University Press, Princeton, NJ.
5. CAVALLI-SFORZA, L. L., P. MENOZZI and A. PIAZZA, 1994b The History and Geography of Human Genes, pp. 266-267. Princeton University Press, Princeton, NJ.
6. CHHAJLANI, V., and J. E. S. WIKBERG, 1992 Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA. FEBS Lett. 309: 417-420.
7. CONE, R. D., D. LU, S. KOPPULA, D. I. VAGE, H. KLUNGLAND et al., 1996 The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation. Recent Prog. Horm. Res. 51: 287-318.
8. 7]-α-MSH at the melanocortin-1 receptor. Biochem. Biophys. Res. Commun. 202: 1266-1271.
9. GANTZ, I., Y. KONDA, T. TASHIRO, Y. SHIMOTO, H. MIWA et al., 1993 Molecular cloning of a novel melanocortin receptor. J. Biol. Chem. 268: 8246-8250.
10. HARRISON, G. A., and J. J. T. OWEN, 1964 Studies on the inheritance of human skin colour. Ann. Hum. Genet. 28: 27-37.
11. HEARING, V. J., and M. JIMENEZ, 1987 Mammalian tyrosinase: the critical regulatory control point in melanocyte pigmentation. Int. J. Biochem. 19: 1141-1147.
12. HEARING, V. J., and R. A. KING, 1993 Determination of skin color: melanocytes and melanization, pp. 3-32 in Pigmentation and Pigmentary Disorders, edited by N. LEVINE. CRC Press, Boca Raton, FL.
13. JIMBOW, K., W. C. QUEVEDO JR., T. B. FITZPATRICK and G. SZABO, 1993 Biology of Melanocytes, pp. 261-289 in Dermatology In General Medicine, Ed. 4, edited by T. FITZPATRICK, A. EISEN, K. WOLFF, I. M. FREEDBERG and R. F. AUSTEN. McGraw-Hill, New York.
14. JOERG, H., H. R. FRIES, E. MEIJERNIK and G. F. STRANZINGER, 1996 Red coat color in holstein cattle is associated with a deletion in the MSHR gene. Mamm. Genome 7: 317-319.
15. JOHANSSON, M., L. MARKLUND, G. K. SANDBER and L. ANDERSSON, 1994 Cosegregation between the chestnut coat colour in horses and polymorphisms at the melanocyte-stumulation hormone (MSH) receptor locus. Anim. Genet. 25: 35.
16. KLUNGLAND, H., D. I. VAGE, L. GOMEZ-RAYA, S. ADALSTEINSSON and S. LIEN, 1995 The role of melanocyte stimulating hormone (MSH) receptor in bovine coat color determination. Mamm. Genome 6: 636-639.
17. KOBAYASHI, T., W. D. VIEIRA, B. POTTER, S. CHIE, G. IMOKAWA et al., 1995 Modulation of melanogenic protein expression during the switch from eu-to pheomelanogenesis. J. Cell Sci. 108: 2301-2309.
18. KOPPULA, S. V., L. S. ROBBINS, L. DONGSI, E. BAACK, C. R. WHITE JR. et al., 1997 Identification of common polymorphisms in the coding sequence of the human MSH receptor (MC1R) with possible biological effects. Hum. Mutat. 9: 30-36.
19. KWON, H. Y., S. J. BULTMAN, C. LOFFLER, W.-J. CHEN, P. J. FURDON et al., 1994 Molecular structure and chromosomal mapping of the human homolog of the agouti gene. Proc. Natl. Acad. Sci. USA 91: 9760-9764.
20. LI, W.-H., 1975 The first arrival time and mean age of a deleterious mutant gene in a finite population. Am. J. Hum. Genet. 27: 274-286.
21. LI, W.-H., 1993 Unbiased estimation of the rates of synonymous and nonsynonymous substitution. J. Mol. Evol. 36: 96-99.
22. LI, W.-H., 1997 Molecular Evolution. Sinauer Associates, Sunderland, MA.
23. LI, W.-H., and L. A. SADLER, 1991 Low nucleotide diverstiy in man. Genetics 129: 513-523.
24. LU, N., D. WILLARD, I. R. PATEL, S. KADWELL, L. OVERTON et al., 1994 Agouti protein is an antagonist of the melanocyte stimulating hormone receptor. Nature 371: 799-802.
25. MAGENIS, R. E., L. SMITH, J. H. NADEAL, K R. HOHNSON, K. G. MOUNTJOY et al., 1994 Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human. Mamm. Genome 5: 503-508.
26. MILLER, S. A., D. D. DYKES and H. F. POLESKY, 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
27. MOUNTJOY, K. G., 1994 The human melanocyte stumulating hormone receptor has evolved to become "super-sensitive" to melanocortin peptides. Mol. Cell. Endocrinol. 102: R7-R11.
28. MOUNTJOY, K. G., L. S. ROBBINS, M. T. NORTRUD and R. D. CONE, 1992 The cloning of a family of genes that encode the melanocortin receptors. Science 257: 1248-1251.
29. OHTA, T., 1995 Synonymous and nonsynonymous substitutions in mammalian genes and the nearly neutral theory. J. Mol. Evol. 40: 56-63.
30. PROTA, G., 1980 Recent advances in the chemistry of melanogenesis in mammals. J. Invest. Dermatol. 75: 122-127.
31. RANA, B. K., D. HEWETT-EMMETT and W.-H. LI, 1996 Variation in the human melanocyte stimulating hormone receptor locus (Abstr.). Pigm. Cell Res 60 (Suppl. 5).
32. ROBBINS, L. S., J. H. NADEAU, K. R. JOHNSON, M. A. KELLY, L. ROSELLI-REHFUSS et al., 1993 Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72: 827-834.
33. SHRIVER, M. D., L. JIN, R. E. FERRELL and R. DEKA, 1997 Microsatellite data support early population expansion in Africa. Genome Res. 7: 586-591.
34. STERN, C., 1970 Model estimates of the number of gene pairs involved in pigmentation variability of the Negro-American. Hum. Hered. 20: 165-168.
35. SUZUKI, I., R. CONE, I. SUNGBIN, J. NORDLUND and Z. ABDEL-MALEK, 1996 Binding of melanotropic hormones to the melanocortin receptor MC1R on human melanocytes stimulates proliferation and melanogenesis. Endocrinology 137: 1627-1633.
36. SZABO, G., 1967 Photobiology of melanogenesis: cytological aspects with reference to differences in racial coloration. Advances in biology of skin, pp. 379-396 in The Pigmentary System, Vol. 8., edited by W. MONTAGNA and F. HU. Pergamon Press, New York.
37. SZABO, G., A. B GERALD, M. A. PATHAK and T. B. FITZPATRICK, 1969 Racial differences in the fate of melanosomes in human epidermis. Nature 222: 1081-1082.
38. THODY, A. J., E. M. HIGGINS, K. WAKAMATSU, S. ITO, S. A. BURCHIL et al., 1991 Phaeomelanin as well as eumelanin is present in human epidermis. J. Invest. Dermatol. 97: 340-344.
39. VAGE, D. G., D. LU, H. KLUNGLAND, S. LIEN, S. ADALSTEINSSON et al., 1997 A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes. Nat. Genet. 15: 311-315.
40. VALVERDE, P., E. HEALY, I. JACKSON, J. L. REES and A. J. THODY, 1995 Variants of the melanocyte stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat. Genet. 11: 328-330.
41. VALVERDE, P., E. HEALY, S. SIKKINK, F. HALDANE, A. J. THODY et al., 1996 The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. Hum. Mol. Genet. 5: 1663-1666.
42. WILSON, B. D., M. M. OLLMANN, L. KANG, M. STOFFEL, G. I. BELL et al., 1995 Structure and function of ASP, the human homolog of the mouse agouti gene. Hum. Mol. Genet. 4: 223-230.
43. XU, X., M. THORNWALL, L.-G. LUNDIN and V. CHHAJLANI, 1996 Val9-2Met variant of the melanocyte stimulating hormone receptor gene. Nat. Genet. 14: 384.
44. YANG, Y.-K., C. DICKINSON, C. HASKELL-LUEVANO and I. GANTZ, 1997 Molecular basis for the interaction of NDP-melanocyte stimulating hormone with the human melanocortin-1 receptor (melanocyte α-MSH receptor). J. Biol. Chem. 272: 23000-23010.