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Volumn 41, Issue 3, 2014, Pages 388-396

Evidence That Loss-of-Function Filaggrin Gene Mutations Evolved in Northern Europeans to Favor Intracutaneous Vitamin D3 Production

Author keywords

Filaggrin; Human evolution; Pigmentation; Skin color; Vitamin D3

Indexed keywords


EID: 84906069269     PISSN: 00713260     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11692-014-9282-7     Document Type: Article
Times cited : (47)

References (46)
  • 1
    • 49449110061 scopus 로고    scopus 로고
    • African Americans, 25-hydroxyvitamin D, and osteoporosis: A paradox
    • Aloia, J. F. (2008). African Americans, 25-hydroxyvitamin D, and osteoporosis: A paradox. American Journal of Clinical Nutrition, 88(2), 545S-550S.
    • (2008) American Journal of Clinical Nutrition , vol.88 , Issue.2
    • Aloia, J.F.1
  • 2
    • 43549111377 scopus 로고    scopus 로고
    • Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects
    • Anno, S., Abe, T., & Yamamoto, T. (2008). Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects. International Journal of Biological Sciences, 4(2), 81-86.
    • (2008) International Journal of Biological Sciences , vol.4 , Issue.2 , pp. 81-86
    • Anno, S.1    Abe, T.2    Yamamoto, T.3
  • 3
    • 84888227090 scopus 로고    scopus 로고
    • The light skin allele of SLC24A5 in South Asians and Europeans shares identity by descent
    • Basu Mallick, C., Iliescu, F. M., Mols, M., Hill, S., Tamang, R., Chaubey, G., et al. (2013). The light skin allele of SLC24A5 in South Asians and Europeans shares identity by descent. PLoS Genetics, 9(11), e1003912.
    • (2013) PLoS Genetics , vol.9 , Issue.11
    • Basu Mallick, C.1    Iliescu, F.M.2    Mols, M.3    Hill, S.4    Tamang, R.5    Chaubey, G.6
  • 5
    • 0033644634 scopus 로고    scopus 로고
    • Vitamin D in an ecological context
    • Bjorn, L. O., & Wang, T. (2000). Vitamin D in an ecological context. Int J Circumpolar Health, 59(1), 26-32.
    • (2000) Int J Circumpolar Health , vol.59 , Issue.1 , pp. 26-32
    • Bjorn, L.O.1    Wang, T.2
  • 6
    • 75549087998 scopus 로고    scopus 로고
    • Vitamin D production after UVB exposure depends on baseline vitamin D and total cholesterol but not on skin pigmentation
    • Bogh, M. K., Schmedes, A. V., Philipsen, P. A., Thieden, E., & Wulf, H. C. (2010). Vitamin D production after UVB exposure depends on baseline vitamin D and total cholesterol but not on skin pigmentation. The Journal of Investigative Dermatology, 130(2), 546-553.
    • (2010) The Journal of Investigative Dermatology , vol.130 , Issue.2 , pp. 546-553
    • Bogh, M.K.1    Schmedes, A.V.2    Philipsen, P.A.3    Thieden, E.4    Wulf, H.C.5
  • 9
    • 79952759315 scopus 로고    scopus 로고
    • Full sequencing of the FLG gene in Italian patients with atopic eczema: Evidence of new mutations, but lack of an association
    • Cascella, R., Foti Cuzzola, V., Lepre, T., Galli, E., Moschese, V., Chini, L., et al. (2011). Full sequencing of the FLG gene in Italian patients with atopic eczema: Evidence of new mutations, but lack of an association. The Journal of Investigative Dermatology, 131(4), 982-984.
    • (2011) The Journal of Investigative Dermatology , vol.131 , Issue.4 , pp. 982-984
    • Cascella, R.1    Foti Cuzzola, V.2    Lepre, T.3    Galli, E.4    Moschese, V.5    Chini, L.6
  • 11
    • 84870523357 scopus 로고    scopus 로고
    • Filaggrin degradation by caspase-14 is required for UVB photoprotection but does not influence allergic sensitization in a mouse model of atopic dermatitis
    • Devos, M., Prawitt, J., Staumont-Salle, D., Hoste, E., Fleury, S., Bouchaert, E., et al. (2012). Filaggrin degradation by caspase-14 is required for UVB photoprotection but does not influence allergic sensitization in a mouse model of atopic dermatitis. The Journal of Investigative Dermatology, 132(12), 2857-2860.
    • (2012) The Journal of Investigative Dermatology , vol.132 , Issue.12 , pp. 2857-2860
    • Devos, M.1    Prawitt, J.2    Staumont-Salle, D.3    Hoste, E.4    Fleury, S.5    Bouchaert, E.6
  • 13
    • 84877683087 scopus 로고    scopus 로고
    • Re-appraisal of current theories for the development and loss of epidermal pigmentation in hominins and modern humans
    • Elias, P. M., & Williams, M. L. (2013). Re-appraisal of current theories for the development and loss of epidermal pigmentation in hominins and modern humans. Journal of Human Evolution, 64(6), 687-692.
    • (2013) Journal of Human Evolution , vol.64 , Issue.6 , pp. 687-692
    • Elias, P.M.1    Williams, M.L.2
  • 14
    • 84855982918 scopus 로고    scopus 로고
    • The Scots' Paradox: Can sun exposure, or lack of it, explain major paradoxes in epidemiology?
    • Gillie, O. (2012). The Scots' Paradox: Can sun exposure, or lack of it, explain major paradoxes in epidemiology? Anticancer Research, 32(1), 237-248.
    • (2012) Anticancer Research , vol.32 , Issue.1 , pp. 237-248
    • Gillie, O.1
  • 15
    • 34548356861 scopus 로고    scopus 로고
    • Is high consumption of fatty fish during pregnancy a risk factor for fetal growth retardation? A study of 44,824 Danish pregnant women
    • Halldorsson, T. I., Meltzer, H. M., Thorsdottir, I., Knudsen, V., & Olsen, S. F. (2007). Is high consumption of fatty fish during pregnancy a risk factor for fetal growth retardation? A study of 44, 824 Danish pregnant women. American Journal of Epidemiology, 166(6), 687-696.
    • (2007) American Journal of Epidemiology , vol.166 , Issue.6 , pp. 687-696
    • Halldorsson, T.I.1    Meltzer, H.M.2    Thorsdottir, I.3    Knudsen, V.4    Olsen, S.F.5
  • 17
    • 84880293646 scopus 로고    scopus 로고
    • Low vitamin D serum level is inversely associated with eczema in children and adolescents in Germany
    • Heimbeck, I., Wjst, M., & Apfelbacher, C. J. (2013). Low vitamin D serum level is inversely associated with eczema in children and adolescents in Germany. Allergy, 68(7), 906-910.
    • (2013) Allergy , vol.68 , Issue.7 , pp. 906-910
    • Heimbeck, I.1    Wjst, M.2    Apfelbacher, C.J.3
  • 18
    • 78650876692 scopus 로고    scopus 로고
    • Vitamin D: Evolutionary, physiological and health perspectives
    • Holick, M. F. (2011). Vitamin D: Evolutionary, physiological and health perspectives. Current Drug Targets, 12(1), 4-18.
    • (2011) Current Drug Targets , vol.12 , Issue.1 , pp. 4-18
    • Holick, M.F.1
  • 19
    • 80053517839 scopus 로고    scopus 로고
    • Filaggrin mutations associated with skin and allergic diseases
    • Irvine, A. D., McLean, W. H., & Leung, D. Y. (2011). Filaggrin mutations associated with skin and allergic diseases. New England Journal of Medicine, 365(14), 1315-1327.
    • (2011) New England Journal of Medicine , vol.365 , Issue.14 , pp. 1315-1327
    • Irvine, A.D.1    McLean, W.H.2    Leung, D.Y.3
  • 20
    • 49449114001 scopus 로고    scopus 로고
    • Pharmacokinetics of vitamin D toxicity
    • Jones, G. (2008). Pharmacokinetics of vitamin D toxicity. American Journal of Clinical Nutrition, 88(2), 582S-586S.
    • (2008) American Journal of Clinical Nutrition , vol.88 , Issue.2
    • Jones, G.1
  • 21
    • 84880020284 scopus 로고    scopus 로고
    • DHCR7 mutations linked to higher vitamin D status allowed early human migration to northern latitudes
    • Kuan, V., Martineau, A. R., Griffiths, C. J., Hypponen, E., & Walton, R. (2013). DHCR7 mutations linked to higher vitamin D status allowed early human migration to northern latitudes. BMC Evolutionary Biology, 13, 144.
    • (2013) BMC Evolutionary Biology , vol.13 , pp. 144
    • Kuan, V.1    Martineau, A.R.2    Griffiths, C.J.3    Hypponen, E.4    Walton, R.5
  • 22
    • 0014192663 scopus 로고
    • Skin-pigment regulation of vitamin-D biosynthesis in man
    • Loomis, W. F. (1967). Skin-pigment regulation of vitamin-D biosynthesis in man. Science, 157(788), 501-506.
    • (1967) Science , vol.157 , Issue.788 , pp. 501-506
    • Loomis, W.F.1
  • 23
    • 0035928531 scopus 로고    scopus 로고
    • The antimicrobial properties of melanocytes, melanosomes and melanin and the evolution of black skin
    • Mackintosh, J. A. (2001). The antimicrobial properties of melanocytes, melanosomes and melanin and the evolution of black skin. Journal of Theoretical Biology, 211(2), 101-113.
    • (2001) Journal of Theoretical Biology , vol.211 , Issue.2 , pp. 101-113
    • Mackintosh, J.A.1
  • 25
    • 77955716350 scopus 로고    scopus 로고
    • Knockdown of filaggrin impairs diffusion barrier function and increases UV sensitivity in a human skin model
    • Mildner, M., Jin, J., Eckhart, L., Kezic, S., Gruber, F., Barresi, C., et al. (2010). Knockdown of filaggrin impairs diffusion barrier function and increases UV sensitivity in a human skin model. The Journal of Investigative Dermatology, 130(9), 2286-2294.
    • (2010) The Journal of Investigative Dermatology , vol.130 , Issue.9 , pp. 2286-2294
    • Mildner, M.1    Jin, J.2    Eckhart, L.3    Kezic, S.4    Gruber, F.5    Barresi, C.6
  • 27
    • 33847664554 scopus 로고    scopus 로고
    • Genetic evidence for the convergent evolution of light skin in Europeans and East Asians
    • Norton, H. L., Kittles, R. A., Parra, E., McKeigue, P., Mao, X., Cheng, K., et al. (2007). Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. Molecular Biology and Evolution, 24(3), 710-722.
    • (2007) Molecular Biology and Evolution , vol.24 , Issue.3 , pp. 710-722
    • Norton, H.L.1    Kittles, R.A.2    Parra, E.3    McKeigue, P.4    Mao, X.5    Cheng, K.6
  • 28
    • 84896319183 scopus 로고    scopus 로고
    • Derived immune and ancestral pigmentation alleles in a 7, 000-year-old Mesolithic European
    • Olalde, I., Allentoft, M. E., Sanchez-Quinto, F., Santpere, G., Chiang, C. W., Degiorgio, M., et al. (2014). Derived immune and ancestral pigmentation alleles in a 7, 000-year-old Mesolithic European. Nature, 507(7491), 225-228.
    • (2014) Nature , vol.507 , Issue.7491 , pp. 225-228
    • Olalde, I.1    Allentoft, M.E.2    Sanchez-Quinto, F.3    Santpere, G.4    Chiang, C.W.5    Degiorgio, M.6
  • 29
  • 30
    • 63049089028 scopus 로고    scopus 로고
    • Function of filaggrin and caspase-14 in formation and maintenance of the epithelial barrier function
    • Presland, R. B. (2009). Function of filaggrin and caspase-14 in formation and maintenance of the epithelial barrier function. Dermatology Sinica, 27, 1-14.
    • (2009) Dermatology Sinica , vol.27 , pp. 1-14
    • Presland, R.B.1
  • 31
    • 0032918729 scopus 로고    scopus 로고
    • High polymorphism at the human melanocortin 1 receptor locus
    • Rana, B. K., Hewett-Emmett, D., Jin, L., Chang, B. H., Sambuughin, N., Lin, M., et al. (1999). High polymorphism at the human melanocortin 1 receptor locus. Genetics, 151(4), 1547-1557.
    • (1999) Genetics , vol.151 , Issue.4 , pp. 1547-1557
    • Rana, B.K.1    Hewett-Emmett, D.2    Jin, L.3    Chang, B.H.4    Sambuughin, N.5    Lin, M.6
  • 32
    • 77951091294 scopus 로고    scopus 로고
    • Recommended summer sunlight exposure levels can produce sufficient (> or=20 ng ml(-1)) but not the proposed optimal (> or=32 ng ml(-1)) 25(OH)D levels at UK latitudes
    • Rhodes, L. E., Webb, A. R., Fraser, H. I., Kift, R., Durkin, M. T., Allan, D., et al. (2010). Recommended summer sunlight exposure levels can produce sufficient (> or=20 ng ml(-1)) but not the proposed optimal (> or=32 ng ml(-1)) 25(OH)D levels at UK latitudes. The Journal of Investigative Dermatology, 130(5), 1411-1418.
    • (2010) The Journal of Investigative Dermatology , vol.130 , Issue.5 , pp. 1411-1418
    • Rhodes, L.E.1    Webb, A.R.2    Fraser, H.I.3    Kift, R.4    Durkin, M.T.5    Allan, D.6
  • 33
    • 67650535493 scopus 로고    scopus 로고
    • The evolution of light skin color: Role of vitamin D disputed
    • Robins, A. (2009). The evolution of light skin color: Role of vitamin D disputed. American Journal of Physical Anthropology, 139(4), 447-450.
    • (2009) American Journal of Physical Anthropology , vol.139 , Issue.4 , pp. 447-450
    • Robins, A.1
  • 34
    • 0020428160 scopus 로고
    • Histidine-rich protein of the keratohyalin granules. Source of the free amino acids, urocanic acid and pyrrolidone carboxylic acid in the stratum corneum
    • Scott, I. R., Harding, C. R., & Barrett, J. G. (1982). Histidine-rich protein of the keratohyalin granules. Source of the free amino acids, urocanic acid and pyrrolidone carboxylic acid in the stratum corneum. Biochimica et Biophysica Acta, 719(1), 110-117.
    • (1982) Biochimica Et Biophysica Acta , vol.719 , Issue.1 , pp. 110-117
    • Scott, I.R.1    Harding, C.R.2    Barrett, J.G.3
  • 36
    • 70849090011 scopus 로고    scopus 로고
    • Seasonal genetic influence on serum 25-hydroxyvitamin D levels: A twin study
    • Snellman, G., Melhus, H., Gedeborg, R., Olofsson, S., Wolk, A., Pedersen, N. L., et al. (2009). Seasonal genetic influence on serum 25-hydroxyvitamin D levels: A twin study. PLoS ONE, 4(11), e7747.
    • (2009) PLoS ONE , vol.4 , Issue.11
    • Snellman, G.1    Melhus, H.2    Gedeborg, R.3    Olofsson, S.4    Wolk, A.5    Pedersen, N.L.6
  • 37
    • 63149157274 scopus 로고    scopus 로고
    • Molecular genetics of human pigmentation diversity
    • Sturm, R. A. (2009). Molecular genetics of human pigmentation diversity. Human Molecular Genetics, 18(R1), R9-R17.
    • (2009) Human Molecular Genetics , vol.18 , Issue.R1
    • Sturm, R.A.1
  • 38
    • 84891691934 scopus 로고    scopus 로고
    • South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin
    • Thawer-Esmail, F., Jakasa, I., Todd, G., Wen, Y., Brown, S. J., Kroboth, K., et al. (2014). South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin. The Journal of Allergy and Clinical Immunology, 133(1), 280-282.
    • (2014) The Journal of Allergy and Clinical Immunology , vol.133 , Issue.1 , pp. 280-282
    • Thawer-Esmail, F.1    Jakasa, I.2    Todd, G.3    Wen, Y.4    Brown, S.J.5    Kroboth, K.6
  • 39
    • 0000633474 scopus 로고
    • Relative efficiency of pigment and horny layer thickness in protecting the skin of Europeans and Africans against solar ultraviolet radiation
    • Thomson, M. L. (1955). Relative efficiency of pigment and horny layer thickness in protecting the skin of Europeans and Africans against solar ultraviolet radiation. Journal of Physiology, 127(2), 236-246.
    • (1955) Journal of Physiology , vol.127 , Issue.2 , pp. 236-246
    • Thomson, M.L.1
  • 40
    • 84869144332 scopus 로고    scopus 로고
    • Skin barrier abnormality caused by filaggrin (FLG) mutations is associated with increased serum 25-hydroxyvitamin D concentrations
    • Thyssen, J. P., Thuesen, B., Huth, C., Standl, M., Carson, C. G., Heinrich, J., et al. (2012). Skin barrier abnormality caused by filaggrin (FLG) mutations is associated with increased serum 25-hydroxyvitamin D concentrations. The journal of Allergy and Clinical Immunology, 130(5), 1204-1207.
    • (2012) The Journal of Allergy and Clinical Immunology , vol.130 , Issue.5 , pp. 1204-1207
    • Thyssen, J.P.1    Thuesen, B.2    Huth, C.3    Standl, M.4    Carson, C.G.5    Heinrich, J.6
  • 42
    • 80052224203 scopus 로고    scopus 로고
    • Worldwide vitamin D status. Best practice and research
    • van Schoor, N. M., & Lips, P. (2011). Worldwide vitamin D status. Best practice and research. Clinical Endocrinology and Metabolism, 25(4), 671-680.
    • (2011) Clinical Endocrinology and Metabolism , vol.25 , Issue.4 , pp. 671-680
    • van Schoor, N.M.1    Lips, P.2
  • 43
    • 0035449246 scopus 로고    scopus 로고
    • Provitamins and vitamins D(2)and D(3)in Cladina spp. over a latitudinal gradient: Possible correlation with UV levels
    • Wang, T., Bengtsson, G., Karnefelt, I., & Bjorn, L. O. (2001). Provitamins and vitamins D(2)and D(3)in Cladina spp. over a latitudinal gradient: Possible correlation with UV levels. Journal of Photochemistry and Photobiology B: Biology, 62(1-2), 118-122.
    • (2001) Journal of Photochemistry and Photobiology B: Biology , vol.62 , Issue.1-2 , pp. 118-122
    • Wang, T.1    Bengtsson, G.2    Karnefelt, I.3    Bjorn, L.O.4
  • 44
    • 77955052903 scopus 로고    scopus 로고
    • Common genetic determinants of vitamin D insufficiency: A genome-wide association study
    • Wang, T. J., Zhang, F., Richards, J. B., Kestenbaum, B., van Meurs, J. B., Berry, D., et al. (2010). Common genetic determinants of vitamin D insufficiency: A genome-wide association study. Lancet, 376(9736), 180-188.
    • (2010) Lancet , vol.376 , Issue.9736 , pp. 180-188
    • Wang, T.J.1    Zhang, F.2    Richards, J.B.3    Kestenbaum, B.4    van Meurs, J.B.5    Berry, D.6
  • 45
    • 84856406370 scopus 로고    scopus 로고
    • Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis
    • Winge, M. C., Bilcha, K. D., Lieden, A., Shibeshi, D., Sandilands, A., Wahlgren, C. F., et al. (2011). Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis. British Journal of Dermatology, 165(5), 1074-1080.
    • (2011) British Journal of Dermatology , vol.165 , Issue.5 , pp. 1074-1080
    • Winge, M.C.1    Bilcha, K.D.2    Lieden, A.3    Shibeshi, D.4    Sandilands, A.5    Wahlgren, C.F.6


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