Información de la revista
Vol. 100. Núm. S2.
Mirando hacia el futuro en Dermatología Extraordinario del Centenario. Parte II
Páginas 84-87 (diciembre 2009)
Compartir
Compartir
Descargar PDF
English PDF
Más opciones de artículo
Vol. 100. Núm. S2.
Mirando hacia el futuro en Dermatología Extraordinario del Centenario. Parte II
Páginas 84-87 (diciembre 2009)
Acceso a texto completo
DNA Polymorphisms: What They Are and Their Role in Human Pigmentation
Polimorfismos de adn: qué son y su rol en la pigmentación humana
Visitas
5369
M.G. Kosmadaki, A.J. Stratigos, Ch. Antoniou, A. Katsambas
Autor para correspondencia
Andreas Sygros Hospital. University of Athens. Greece
Este artículo ha recibido
Información del artículo
Abstract

The color of the skin, hair and eye is controlled by multiple genes and is among the most visible examples of human phenotypic variation. Genetics correlate phenotypic with genotypic variation. Recent scientific work reveals DNA polymorphisms at least partially responsible for some of the differences observed in human pigmentation. These are the focus of this review.

Key words:
single nucleotide polymorphism
polymorphisms
pigmentation
Resumen

El color de la piel, el pelo y los ojos está controlado por múltiples genes y es uno de los ejemplos más visibles de la variabilidad fenotípica humana. La genética correlaciona la variabilidad fenotípica con la genotípica. Recientes publicaciones científicas revelan que los polimorfismos del ADN son responsables, al menos parcialmente, de algunas de las diferencias observadas en la pigmentación humana. Éstas serán el objetivo de la presente revisión.

Palabras clave:
polimorfismos de nucleótido único
polimorfismos
pigmentación
El Texto completo está disponible en PDF
References
[1.]
H.Y. Park, M. Kosmadaki, M. Yaar, B.A. Gilchrest.
Cellular mechanisms regulating human melanogenesis.
Cell Mol Life Sci, 66 (2009), pp. 1493-1506
[2.]
R.A. Sturm, R.D. Teasdale, N.F. Box.
Human pigmentation genes: identification, structure and consequences of polymorphic variation.
Gene, 277 (2001), pp. 49-62
[3.]
B.B. Fuller, D.T. Spaulding, D.R. Smith.
Regulation of the catalytic activity of preexisting tyrosinase in black and Caucasian human melanocyte cell cultures.
Exp Cell Res, 262 (2001), pp. 197-208
[4.]
N. Puri, J.M. Gardner, M.H. Brilliant.
Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes.
J Invest Dermatol, 115 (2000), pp. 607-613
[5.]
E.M. Rinchik, S.J. Bultman, B. Horsthemke, S.T. Lee, K.M. Strunk, R.A. Spritz, et al.
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.
Nature, 361 (1993), pp. 72-76
[6.]
R.L. Lamason, M.A. Mohideen, J.R. Mest, A.C. Wong, H.L. Norton, M.C. Aros, et al.
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.
Science, 310 (2005), pp. 1782-1786
[7.]
T. Frudakis, M. Thomas, Z. Gaskin, K. Venkateswarlu, K.S. Chandra, S. Giniupalli, et al.
Sequences associated with human iris pigmentation.
Genetics, 165 (2003), pp. 2071-2083
[8.]
M.D. Shriver, E.J. Parra, S. Dios, C. Bonilla, H. Norton, C. Jovel, et al.
Skin pigmentation, biogeographical ancestry and admixture mapping.
Hum Genet, 112 (2003), pp. 387-399
[9.]
C.A. McKenzie, R.M. Harding, J.B. Tomlinson, A.J. Ray, K. Wakamatsu, J.L. Rees.
Phenotypic expression of melanocortin- 1 receptor mutations in Black Jamaicans.
J Invest Dermatol, 121 (2003), pp. 207-208
[10.]
P.A. Kanetsky, J. Swoyer, S. Panossian, R. Holmes, D. Guerry, T.R. Rebbeck.
A polymorphism in the agouti signaling protein gene is associated with human pigmentation.
Am J Hum Genet, 70 (2002), pp. 770-775
[11.]
C. Bonilla, L.A. Boxill, S.A. Donald, T. Williams, N. Sylvester, E.J. Parra, et al.
The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans.
Hum Genet, 116 (2005), pp. 402-406
[12.]
R. Meziani, V. Descamps, B. Gérard, G. Matichard, A. Archimbaud, L. Ollivaud, et al.
Association study of the g.8818A > G polymorphism of the human agouti gene with melanoma risk and pigmentary characteristics in a French population.
J Dermatol Sci, 40 (2005), pp. 133-136
[13.]
U. Brudnik, W. Branicki, A. Wojas-Pelc, P. Kanas.
The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A > G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.
Exp Dermatol, 18 (2009), pp. 167-174
[14.]
H. Nan, P. Kraft, D.J. Hunter, J. Han.
Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
Int J Cancer, 125 (2009), pp. 909-917
[15.]
P. Sulem, D.F. Gudbjartsson, S.N. Stacey, A. Helgason, T. Rafnar, M. Jakobsdottir, et al.
Two newly identified genetic determinants of pigmentation in Europeans.
Nat Genet, 40 (2008), pp. 835-837
[16.]
J. Graf, R. Hodgson, A. van Daal.
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.
Hum Mutat, 25 (2005), pp. 278-284
[17.]
K. Nakayama, S. Fukamachi, H. Kimura, Y. Koda, A. Soemantri, T. Ishida.
Distinctive distribution of AIM1 polymorphism among major human populations with different skin color.
J Hum Genet, 47 (2002), pp. 92-94
[18.]
W. Branicki, U. Brudnik, J. Draus-Barini, T. Kupiec, A. Wojas-Pelc.
Association of the SLC45A2 gene with physiological human hair colour variation.
J Hum Genet, 53 (2008), pp. 966-971
[19.]
J. Graf, J. Voisey, I. Hughes, A. van Daal.
Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation.
Hum Mutat, 28 (2007), pp. 710-717
[20.]
J. Han, P. Kraft, H. Nan, Q. Guo, C. Chen, A. Qureshi, et al.
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
PLoS Genet, 4 (2008), pp. e1000074
[21.]
H.L. Norton, R.A. Kittles, E. Parra, P. McKeigue, X. Mao, K. Cheng, et al.
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians.
Mol Biol Evol, 24 (2007), pp. 710-722
[22.]
S. Alaluf, K. Barrett, M. Blount, N. Carter.
Ethnic variation in tyrosinase and TYRP1 expression in photoexposed and photoprotected human skin.
Pigment Cell Res, 16 (2003), pp. 35-42
[23.]
R. Iida, M. Ueki, H. Takeshita, J. Fujihara, T. Nakajima, Y. Kominato, et al.
Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.
Cell Biochem Funct, 27 (2009), pp. 323-327
[24.]
H. Eiberg, J. Troelsen, M. Nielsen, A. Mikkelsen, J. Mengel-From, K.W. Kjaer, et al.
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.
Hum Genet, 123 (2008), pp. 177-187
[25.]
D.L. Duffy, G.W. Montgomery, W. Chen, Z.Z. Zhao, L. Le, M.R. James, et al.
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
Am J Hum Genet, 80 (2007), pp. 241-252
[26.]
A.L. Cook, W. Chen, A.E. Thurber, D.J. Smit, A.G. Smith, T.G. Bladen, et al.
Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci.
J Invest Dermatol, 129 (2009), pp. 392-405
[27.]
S.T. Lee, R.D. Nicholls, M.T. Jong, K. Fukai, R.A. Spritz.
Organization and sequence of the human P gene and identification of a new family of transport proteins.
Genomics, 26 (1995), pp. 354-363
[28.]
Gathany AH, Hartge P, Davis S, Cerhan JR, Severson RK, Cozen W, et al. Relationship between interferon regulatory factor 4 genetic polymorphisms, measures of sun sensitivity and risk for non-Hodgkin lymphoma. Cancer Causes Control. In press. 2009.
[29.]
B. Wehrle-Haller.
The role of Kit-ligand in melanocyte development and epidermal homeostasis.
Pigment Cell Res, 16 (2003), pp. 287-296
[30.]
C.T. Miller, S. Beleza, A.A. Pollen, D. Schluter, R.A. Kittles, M.D. Shriver, et al.
cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebacks and humans.
Cell, 131 (2007), pp. 1179-1189
[31.]
P. Sulem, D.F. Gudbjarsson, S.N. Stacey, A. Helgason, T. Rafnar, K.P. Magnusson, et al.
Genetic determinants of hair, eye and skin pigmentation in Europeans.
Nat Genet, 39 (2007), pp. 1443-1452
Copyright © 2009. Academia Española de Dermatología y Venereología
Descargar PDF
Idiomas
Actas Dermo-Sifiliográficas
Opciones de artículo
Herramientas
es en

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?