Evolutionary perspective in skin color, vitamin D and its receptor

Hormones

Volumn 9, Issue 4, 2010, Pages 307-311

  Hochberg, Ze'ev ^a   Templeton, Alan R ^b  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Evolution; MC1R; Rickets; Skin color; Vitamin D

Indexed keywords

AGOUTI PROTEIN; COLECALCIFEROL; GENE PRODUCT; INTERFERON REGULATORY FACTOR 4; MELANIN; PREGNANE X RECEPTOR; PROTEIN HERC2; PROTEIN MATP; PROTEIN OCA2; PROTEIN SLC45A2; UNCLASSIFIED DRUG; VITAMIN D; VITAMIN D RECEPTOR;

DRUG RECEPTOR BINDING; DRUG SYNTHESIS; GENE EXPRESSION; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GEOGRAPHY; HUMAN; LATITUDE; MELANOSIS; NONHUMAN; REVIEW; SKIN COLOR; SKIN PIGMENTATION; ULTRAVIOLET RADIATION;

EID: 78649693137     PISSN: 11093099     EISSN: None     Source Type: Journal    
DOI: 10.14310/horm.2002.1281     Document Type: Review

References (51)

1. Hancock AM, Witonsky DB, Gordon AS, et al, 2008 Adaptations to climate in candidate genes for common metabolic disorders. PLoS Genet 4: e32.
2. Murray F, 1934 Pigmentation, sunlight and nutritional disease. Am Anthrop 36: 438-445.
3. Loomis WF, 1967 Skin-pigment regulation of vitamin-D biosynthesis in man. Science 157: 501-506.
4. Jablonski NG, Chaplin G, 2000 the evolution of human skin coloration. J Hum Evol 39: 57-106.
5. Jablonski NG, Chaplin G, 2010 Colloquium paper: human skin pigmentation as an adaptation to UV radiation. Proc Natl Acad Sci USA 107: Suppl 2: 8962-8968.
6. Neer RM, 1975 the evolutionary significance of vitamin D, skin pigment, and ultraviolet light. Am J Phys Anthropol 43: 409-416.
7. Webb AR, Kline L, Holick MF, 1988 Influence of season and latitude on the cutaneous synthesis of vitamin D3: exposure to winter sunlight in Boston and Edmonton will not promote vitamin D3 synthesis in human skin. J Clin Endocrinol Metab 67: 373-378.
8. Wassermann HP, 1971 the colour of human skin. Spectral reflectance versus skin colour. Dermatologica 143: 166-173.
9. Relethford JH, 1997 Hemispheric difference in human skin color. Am J Phys Anthropol 104: 449-457.
10. Chaplin G, 2004 Geographic distribution of environmental factors influencing human skin coloration. Am J Phys Anthropol 125: 292-302.
11. Roberts DF, Kahlon DP, 1976 Environmental correlations of skin colour. Ann Hum Biol 3:11-22.
12. Holick MF, 2003 Evolution and function of vitamin D. Recent Results Cancer Res 164: 3-28.
13. Robins AH, 2009 the evolution of light skin color: role of vitamin D disputed. Am J Phys Anthropol 139: 447-50.
14. Barsh GS, 1996 the genetics of pigmentation: from fancy genes to complex traits. trends Genet 12: 299-305.
15. Fitch KR, McGowan KA, van Raamsdonk CD, et al, 2003 Genetics of dark skin in mice. Genes Dev 17: 214-228.
16. Han J, Kraft P, Nan H, et al, 2008 A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet 4: e1000074.
17. Sulem P, Gudbjartsson DF, Stacey SN, et al, 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet 39: 1443-1452.
18. Branicki W, Brudnik U, Wojas-Pelc A, 2009 Interactions between HERC2, oCA2 and MC1R may influence human pigmentation phenotype. Ann Hum Genet 73: 160-170.
19. Makova K, Norton H, 2005 Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans. Peptides 26: 1901-1908.
20. Rana BK, Hewett-Emmett D, Jin L, et al, 1999 High polymorphism at the human melanocortin 1 receptor locus. Genetics 151: 1547-1557.
21. Beaumont KA, Shekar SL, Newton RA, et al, 2007 Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles. Hum Mol Genet 16: 2249-2260.
22. Mullin GE, Dobs A, 2007 Vitamin D and its role in cancer and immunity: a prescription for sunlight. Nutr Clin Pract 22: 305-322.
23. Bohm M, Eickelmann M, Li Z, et al, 2005 Detection of functionally active melanocortin receptors and evidence for an immunoregulatory activity of alpha-melanocyte-stimulating hormone in human dermal papilla cells. Endocrinology 146: 4635-4646.
24. John PR, Makova K, Li WH, Jenkins t, Ramsay M, 2003, DNA polymorphism and selection at the melanocortin-1 receptor gene in normally pigmented southern African individuals. Ann N Y Acad Sci 994: 299-306.
25. templeton A 2007 Population biology and population genetics of Pleistocene Hominins. In: Henke W, tat-tersall, I, (ed) Handbook of Paleoanthropology. Berlin: Springer-Verlag; pp, 1825-1859.
26. templeton AR, 2005 Haplotype trees and modern human origins. Am J Phys Anthropol Suppl 41: 33-59.
27. Templeton A, 2002 out of Africa again and again. Nature 416: 45-51.
28. Relethford JH, 2002 Apportionment of global human genetic diversity based on craniometrics and skin color. Am J Phys Anthropol 118: 393-398.
29. Clemens TL, Adams JS, Henderson SL, Holick MF, 1982 Increased skin pigment reduces the capacity of skin to synthesise vitamin D3. Lancet 1: 74-76.
30. Holick MF, MacLaughlin JA, Doppelt SH, 1981 Regulation of cutaneous previtamin D3 photosynthesis in man: skin pigment is not an essential regulator. Science 211: 590-593.
31. Feldman D, Chen t, Cone C, et al, 1982 Vitamin D resistant rickets with alopecia: cultured skin fibroblasts exhibit defective cytoplasmic receptors and unresponsiveness to 1,25(oH)2D3. J Clin Endocrinol Metab 55: 1020-1022.
32. Hochberg Z, Benderli A, Levy J, et al, 1984 1,25-Dihy-droxyvitamin D resistance, rickets, and alopecia. Am J Med 77: 805-811.
33. Hochberg Z, Borochowitz Z, Benderli A, et al, 1985 Does 1,25-dihydroxyvitamin D participate in the regulation of hormone release from endocrine glands? J Clin Endocrinol Metab 60: 57-61.
34. Nagler A, Merchav S, Fabian I, Tatarsky I, Weisman Y, Hochberg Z, 1987 Myeloid progenitors from the bone marrow of patients with vitamin D resistant rickets (type II) fail to respond to 1,25(oH)2D3. Br J Haematol 67: 267-271.
35. Weisman Y, Bab I, Gazit D, Spirer Z, Jaffe M, Hochberg Z, 1987 Long-term intracaval calcium infusion therapy in end-organ resistance to 1,25-dihydroxyvitamin D. Am J Med 83: 984-990.
36. Malloy PJ, Hochberg Z, tiosano D, Pike JW, Hughes MR, Feldman D, 1990 the molecular basis of hereditary 1,25-dihydroxy vitamin D3 resistant rickets in seven related families. J Clin Invest 86: 2071-2079.
37. Even L, Weisman Y, Goldray D, Hochberg Z, 1996 Selective modulation by vitamin D of renal response to parathyroid hormone: a study in calcitriol-resistant rickets. J Clin Endocrinol Metab 81: 2836-2840.
38. Tiosano D, Weisman Y, Hochberg Z, 2001 the role of the vitamin D receptor in regulating vitamin D metabolism: a study of vitamin D-dependent rickets, type II. J Clin Endocrinol Metab 86: 1908-1912.
39. Hochberg Z, 2002 Vitamin-D-dependent rickets type 2. Horm Res 58: 297-302.
40. Ekins S, Reschly EJ, Hagey LR, Krasowski MD, 2008 Evolution of pharmacologic specificity in the pregnane X receptor. BMC Evol Biol 8: 103.
41. Krasowski MD, Yasuda K, Hagey LR, Schuetz EG, 2005 Evolutionary selection across the nuclear hormone receptor superfamily with a focus on the NR1I subfamily (vitamin D, pregnane X, and constitutive androstane receptors). Nucl Recept 3: 2.
42. Reschly EJ, Bainy AC, Mattos JJ, et al, 2007 Functional evolution of the vitamin D and pregnane X receptors. BMC Evol Biol 7: 222.
43. Whitfield GK, Dang Ht, Schluter SF, et al, 2003 Cloning of a functional vitamin D receptor from the lamprey (Petromyzon marinus), an ancient vertebrate lacking a calcified skeleton and teeth. Endocrinology 144: 2704-2716.
44. Hochberg Z 2003 Vitamin D and Rickets. Basel: Karg-er.
45. Audi L, Marti G, Esteban C, et al, 2004 VDR gene polymorphism at exon 2 start codon (FokI) may have influenced type 1 diabetes mellitus susceptibility in two Spanish populations. Diabet Med 21: 393-394.
46. thakkinstian A, D'Este C, Eisman J, Nguyen t, Attia J, 2004 Meta-analysis of molecular association studies: vitamin D receptor gene polymorphisms and BMD as a case study. J Bone Miner Res 19: 419-428.
47. Arai H, Miyamoto K, taketani Y, et al, 1997 AvitaminD receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J Bone Miner Res 12: 915-921.
48. Baroncelli GI, Bereket A, El Kholy M, et al, 2008 Rickets in the Middle East: role of environment and genetic predisposition. J Clin Endocrinol Metab 93: 1743-1750.
49. Audi L, Baroncelli GI, Bereket A, El Kholy M, Fernan-dez-Cancio M, Hochberg Z, 2007 Vitamin D receptor gene polymorphism and rickets. Hormone Research 68: Suppl 1: 19.
50. Ingles SA, Wang J, Coetzee GA, Lee ER, Frankl HD, Haile RW, 2001 Vitamin D receptor polymorphisms and risk of colorectal adenomas (United States). Cancer Causes Control 12: 607-614.
51. Li C, Liu Z, Wang LE, et al, 2008 Haplotype and genotypes of the VDR gene and cutaneous melanoma risk in non-Hispanic whites in texas: a case-control study. Int J Cancer 122: 2077-2084.