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BioMed Research International
Volume 2014, Article ID 905472, 10 pages
http://dx.doi.org/10.1155/2014/905472
Review Article

Mutational Analysis of Oculocutaneous Albinism: A Compact Review

Bioinformatics Division, School of Bio Sciences and Technology (SBST), Vellore Institute of Technology University, Vellore, Tamil Nadu 632014, India

Received 21 February 2014; Accepted 11 June 2014; Published 29 June 2014

Academic Editor: Raja Sivamani

Copyright © 2014 Balu Kamaraj and Rituraj Purohit. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. A. E. Garrod, Inborn Errors of Metabolism, Frowde and Hodder & Stoughton, London, UK, 1923.
  2. C. F. Wildsoet, P. J. Oswald, and S. Clark, “Albinism: its implications for refractive development,” Investigative Ophthalmology & Visual Science, vol. 41, no. 1, pp. 1–7, 2000. View at Google Scholar · View at Scopus
  3. B. Kasmann-Kellner, K. Hille, and B. Pfau, “Eye and general illnesses in the public school for the blind and usually handicapped students in Saarland development in the last 20 years,” Opthamologe, vol. 95, no. 1, pp. 51–54, 1998. View at Google Scholar
  4. W. Li, M. He, H. Zhou, J. W. Bourne, and P. Liang, “Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database,” Human Mutation, vol. 27, no. 5, pp. 402–407, 2006. View at Google Scholar
  5. A. Wei and W. Li, “Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis,” Pigment Cell and Melanoma Research, vol. 26, no. 2, pp. 176–192, 2013. View at Publisher · View at Google Scholar · View at Scopus
  6. T. Suzuki, Y. Miyamura, K. Inagaki, and Y. Tomita, “Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA,” Journal of Dermatological Science, vol. 32, no. 2, pp. 131–136, 2003. View at Publisher · View at Google Scholar · View at Scopus
  7. S. M. Hutton and R. A. Spritz, “Comprehensive analysis of oculocutaneous albinism among non-hispanic caucasians shows that OCA1 Is the most prevalent OCA type,” Journal of Investigative Dermatology, vol. 128, no. 10, pp. 2442–2450, 2008. View at Publisher · View at Google Scholar · View at Scopus
  8. K. Grønskov, J. Ek, A. Sand et al., “Birth prevalence and mutation spectrum in Danish patients with autosomal recessive albinism,” Investigative Ophthalmology & Visual Science, vol. 50, no. 3, pp. 1058–1064, 2009. View at Publisher · View at Google Scholar · View at Scopus
  9. M. Mondal, M. Sengupta, S. Samanta, A. Sil, and K. Ray, “Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings,” Gene, vol. 511, no. 2, pp. 470–474, 2012. View at Publisher · View at Google Scholar · View at Scopus
  10. K. Grønskov, C. M. Dooley, E. Østergaard et al., “Mutations in C10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism,” The American Journal of Human Genetics, vol. 92, no. 3, pp. 415–421, 2013. View at Publisher · View at Google Scholar · View at Scopus
  11. A. H. Wei, D. J. Zang, Z. Zhang et al., “Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic Oculocutaneous albinism,” Journal of Investigative Dermatology, vol. 133, no. 7, pp. 1834–1840, 2013. View at Publisher · View at Google Scholar · View at Scopus
  12. T. Kausar, M. A. Bhatti, M. Ali, R. S. Shaikh, and Z. M. Ahmed, “OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24,” Clinical Genetics, vol. 84, no. 1, pp. 91–93, 2013. View at Publisher · View at Google Scholar · View at Scopus
  13. A. Gargiulo, F. Testa, S. Rossi et al., “Molecular and clinical characterization of albinism in a large cohort of Italian patients,” Investigative Ophthalmology and Visual Science, vol. 52, no. 3, pp. 1281–1289, 2011. View at Publisher · View at Google Scholar · View at Scopus
  14. C. Rooryck, F. Morice-Picard, N. H. Elçioglu, D. Lacombe, A. Taieb, and B. Arveiler, “Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects,” Pigment Cell & Melanoma Research, vol. 21, no. 5, pp. 583–587, 2008. View at Publisher · View at Google Scholar · View at Scopus
  15. A. N. Okoro, “Albinism in Nigeria. A clinical and social study,” British Journal of Dermatology, vol. 92, no. 5, pp. 485–492, 1975. View at Google Scholar · View at Scopus
  16. N. Puri, D. Durham-Pierre, R. Aquaron, P. M. Lund, R. A. King, and M. H. Brilliant, “Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene,” Human Genetics, vol. 100, no. 5-6, pp. 651–656, 1997. View at Publisher · View at Google Scholar · View at Scopus
  17. D. Durham-Pierre, J. M. Gardner, Y. Nakatsu et al., “African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism,” Nature Genetics, vol. 7, no. 2, pp. 176–179, 1994. View at Publisher · View at Google Scholar · View at Scopus
  18. G. Stevens, J. van Beukering, T. Jenkins, and M. Ramsay, “An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in Southern African Negroids,” American Journal of Human Genetics, vol. 56, no. 3, pp. 586–591, 1995. View at Google Scholar · View at Scopus
  19. G. Stevens, M. Ramsay, and T. Jenkins, “Oculocutaneous albinism (OCA2) in sub-Saharan Africa: Distribution of the common 2.7-kb P gene deletion mutation,” Human Genetics, vol. 99, no. 4, pp. 523–527, 1997. View at Publisher · View at Google Scholar · View at Scopus
  20. K. Inagaki, T. Suzuki, H. Shimizu et al., “Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan,” The American Journal of Human Genetics, vol. 74, no. 3, pp. 466–471, 2004. View at Publisher · View at Google Scholar · View at Scopus
  21. R. E. Boissy, “Albinism. eMedicine,” 2003, http://emedicine.medscape.com/article/1068184-overview.
  22. Y. Tomita, A. Takeda, S. Okinaga, H. Tagami, and S. Shibahara, “Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene,” Biochemical and Biophysical Research Communications, vol. 164, no. 3, pp. 990–996, 1989. View at Publisher · View at Google Scholar · View at Scopus
  23. B. S. Kwon, A. K. Haq, S. H. Pomerantz, and R. Halaban, “Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus,” Proceedings of the National Academy of Sciences of the United States of America, vol. 84, no. 21, pp. 7473–7477, 1987. View at Publisher · View at Google Scholar · View at Scopus
  24. C. J. Cooksey, P. J. Garratt, E. J. Land et al., “Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase,” The Journal of Biological Chemistry, vol. 272, no. 42, pp. 26226–26235, 1997. View at Publisher · View at Google Scholar · View at Scopus
  25. HGMD, The Human Gene Mutation Database at the Institute Medical Genetics in Cardiff, 2013, http://www.hgmd.org/.
  26. E. M. Rinchik, S. J. Bultman, B. Horsthemke et al., “A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism,” Nature, vol. 361, no. 6407, pp. 72–76, 1993. View at Publisher · View at Google Scholar · View at Scopus
  27. S.-T. Lee, R. D. Nicholls, M. T. C. Jong, K. Fukai, and R. A. Spritz, “Organization and sequence of the human P gene and identification of a new family of transport proteins,” Genomics, vol. 26, no. 2, pp. 354–363, 1995. View at Publisher · View at Google Scholar · View at Scopus
  28. J. Ancans, N. Flanagan, M. J. Hoogduijn, and A. J. Thody, “P-locus is a target for the melanogenic effects of MC-1R signaling: a possible control point for facultative pigmentation,” Annals of the New York Academy of Sciences, vol. 994, pp. 373–377, 2003. View at Publisher · View at Google Scholar · View at Scopus
  29. R. A. Sturm, D. L. Duffy, N. F. Box et al., “The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes,” Pigment Cell Research, vol. 16, no. 3, pp. 266–272, 2003. View at Publisher · View at Google Scholar
  30. A. Jannot, R. Meziani, G. Bertrand et al., “Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma,” European Journal of Human Genetics, vol. 13, no. 8, pp. 913–920, 2005. View at Publisher · View at Google Scholar · View at Scopus
  31. K. Grønskov, J. Ek, and K. Brondum-Nielsen, “Oculocutaneous albinism,” Orphanet Journal of Rare Diseases, vol. 2, no. 1, article 43, 2007. View at Publisher · View at Google Scholar · View at Scopus
  32. S. Rosemblat, D. Durham-Pierre, J. M. Gardner, Y. Nakatsu, M. H. Brilliant, and S. J. Orlow, “Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene,” Proceedings of the National Academy of Sciences of the United States of America, vol. 91, no. 25, pp. 12071–12075, 1994. View at Publisher · View at Google Scholar · View at Scopus
  33. T. R. Rebbeck, P. A. Kanetsky, A. H. Walker et al., “P gene as an inherited biomarker of human eye color,” Cancer Epidemiology Biomarkers and Prevention, vol. 11, no. 8, pp. 782–784, 2002. View at Google Scholar · View at Scopus
  34. A. Korner and J. Pawelek, “Mammalian tyrosinase catalyzes three reactions in the biosynthesis of melanin,” Science, vol. 217, no. 4565, pp. 1163–1165, 1982. View at Publisher · View at Google Scholar · View at Scopus
  35. P. Manga, R. E. Boissy, S. Pifko-Hirst, B.-K. Zhou, and S. J. Orlow, “Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2,” Experimental Eye Research, vol. 72, no. 6, pp. 695–710, 2001. View at Publisher · View at Google Scholar · View at Scopus
  36. M. H. Brilliant, “The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH,” Pigment Cell Research, vol. 14, no. 2, pp. 86–93, 2001. View at Publisher · View at Google Scholar · View at Scopus
  37. V. V. V. S. Murty, B. Bouchard, S. Mathew, S. Vijayasaradhi, and A. N. Houghton, “Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization,” Genomics, vol. 13, no. 1, pp. 227–229, 1992. View at Publisher · View at Google Scholar · View at Scopus
  38. S. Shibahara, H. Taguchi, R. M. Muller et al., “Structural organization of the pigment cell-specific gene located at the brown locus in mouse: its promoter activity and alternatively spliced transcripts,” Journal of Biological Chemistry, vol. 266, no. 24, pp. 15895–15901, 1991. View at Google Scholar · View at Scopus
  39. R. A. Sturm, B. J. O'Sullivan, N. F. Box et al., “Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family,” Genomics, vol. 29, no. 1, pp. 24–34, 1995. View at Publisher · View at Google Scholar · View at Scopus
  40. N. F. Box, J. R. Wyeth, C. J. Mayne, L. E. O'Gorman, N. G. Martin, and R. A. Sturm, “Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1,” Mammalian Genome, vol. 9, no. 1, pp. 50–53, 1998. View at Publisher · View at Google Scholar · View at Scopus
  41. S. Vijayasaradhi, P. M. Doskoch, and A. N. Houghton, “Biosynthesis and intracellular movement of the melanosomal membrane glycoprotein gp75, the human b (Brown) locus product,” Experimental Cell Research, vol. 196, no. 2, pp. 233–240, 1991. View at Publisher · View at Google Scholar · View at Scopus
  42. R. Halaban and G. Moellmann, “Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity,” Proceedings of the National Academy of Sciences of the United States of America, vol. 87, no. 12, pp. 4809–4813, 1990. View at Publisher · View at Google Scholar · View at Scopus
  43. T. Kobayashi, G. Imokawa, D. C. Bennett, and V. J. Hearing, “Tyrosinase stabilization by Tyrp1 (the brown locus protein),” The Journal of Biological Chemistry, vol. 273, no. 48, pp. 31801–31805, 1999. View at Publisher · View at Google Scholar · View at Scopus
  44. T. Hirobe and H. Abe, “Genetic and epigenetic control of the proliferation and differentiation of mouse epidermal melanocytes in culture,” Pigment Cell Research, vol. 12, no. 3, pp. 147–163, 1999. View at Publisher · View at Google Scholar · View at Scopus
  45. R. Johnson and I. J. Jackson, “Light is a dominant mouse mutation resulting in premature cell death,” Nature Genetics, vol. 1, no. 3, pp. 226–229, 1992. View at Publisher · View at Google Scholar · View at Scopus
  46. D. Fang, Y. Tsuji, and V. Setaluri, “Selective down-regulation of tyrosinase family gene TYRP1 by inhibition of the activity of melanocyte transcription factor, MITF,” Nucleic Acids Research, vol. 30, no. 14, pp. 3096–3106, 2002. View at Publisher · View at Google Scholar · View at Scopus
  47. R. Sarangarajan and R. E. Boissy, “Tyrp1 and oculocutaneous albinism type 3,” Pigment Cell Research, vol. 14, no. 6, pp. 437–444, 2001. View at Publisher · View at Google Scholar · View at Scopus
  48. R. E. Boissy, C. Sakai, H. Zhao, T. Kobayashi, and V. J. Hearing, “Human tyrosinase related protein-1 (TRP-1) does not function as a DHICA oxidase activity in contrast to murine TRP-1,” Experimental Dermatology, vol. 7, no. 4, pp. 198–204, 1998. View at Publisher · View at Google Scholar · View at Scopus
  49. H. Zhao, Y. Zhao, J. J. Nordlund, and R. E. Boissy, “Human TRP-1 has tyrosine hydroxylase but no dopa oxidase activity,” Pigment Cell Research, vol. 7, no. 3, pp. 131–140, 1994. View at Publisher · View at Google Scholar · View at Scopus
  50. K. Urabe, P. Aroca, and V. J. Hearing, “From gene to protein: determination of melanin synthesis,” Pigment Cell Research, vol. 6, no. 4, pp. 186–192, 1993. View at Publisher · View at Google Scholar · View at Scopus
  51. C. Olivares, C. Jiménez-Cervantes, J. A. Lozano, F. Solano, and J. C. García-Borrón, “The 5,6-dihydroxyindole-2-carboxylic acid (DHICA) oxidase activity of human tyrosinase,” Biochemical Journal, vol. 354, no. 1, pp. 131–139, 2001. View at Publisher · View at Google Scholar · View at Scopus
  52. J. M. Newton, O. Cohen-Barak, N. Hagiwara et al., “Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4,” American Journal of Human Genetics, vol. 69, no. 5, pp. 981–988, 2001. View at Publisher · View at Google Scholar · View at Scopus
  53. S. Fukamachi, A. Shimada, and A. Shima, “Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka,” Nature Genetics, vol. 28, no. 4, pp. 381–385, 2001. View at Publisher · View at Google Scholar · View at Scopus
  54. M. Harada, Y. F. Li, M. El-Gamil, S. A. Rosenberg, and P. F. Robbins, “Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells,” Cancer Research, vol. 61, no. 3, pp. 1089–1094, 2001. View at Google Scholar · View at Scopus
  55. U. Rundshagen, C. Zühlke, S. Opitz, E. Schwinger, and B. Käsmann-Kellner, “Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4,” Human Mutation, vol. 23, no. 2, pp. 106–110, 2004. View at Publisher · View at Google Scholar · View at Scopus
  56. K. Inagaki, T. Suzuki, S. Ito et al., “Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes,” Pigment Cell Research, vol. 19, no. 5, pp. 451–453, 2006. View at Publisher · View at Google Scholar · View at Scopus
  57. T. Suzuki, K. Inagaki, K. Fukai et al., “A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene,” British Journal of Dermatology, vol. 152, no. 1, pp. 174–175, 2005. View at Publisher · View at Google Scholar · View at Scopus
  58. G. E. Costin, J. C. Valencia, W. D. Vieira, M. L. Lamoreux, and V. J. Hearing, “Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4,” Journal of Cell Science, vol. 116, no. 15, pp. 3203–3212, 2003. View at Publisher · View at Google Scholar · View at Scopus
  59. A. R. Cullinane, T. Vilboux, K. O'Brien et al., “Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia,” Journal of Investigative Dermatology, vol. 131, no. 10, pp. 2017–2025, 2011. View at Publisher · View at Google Scholar · View at Scopus
  60. M. P. Fanny, L. Eulalie, F. Stéphane et al., “SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism,” Journal of Investigative Dermatology, 2013. View at Publisher · View at Google Scholar
  61. R. L. Lamason, M. P. K. Mohideen, J. R. Mest et al., “Genetics: SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans,” Science, vol. 310, no. 5755, pp. 1782–1786, 2005. View at Publisher · View at Google Scholar · View at Scopus
  62. J. Bella, K. L. Hindle, P. A. McEwan, and S. C. Lovell, “The leucine-rich repeat structure,” Cellular and Molecular Life Sciences, vol. 65, no. 15, pp. 2307–2333, 2008. View at Publisher · View at Google Scholar · View at Scopus
  63. M. T. Bassi, M. V. Schiaffino, A. Renieri et al., “Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome,” Nature Genetics, vol. 10, no. 1, pp. 13–19, 1995. View at Publisher · View at Google Scholar · View at Scopus
  64. J. Oh, L. Ho, S. Ala-Mello et al., “Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity,” The American Journal of Human Genetics, vol. 62, no. 3, pp. 593–598, 1998. View at Publisher · View at Google Scholar · View at Scopus
  65. R. A. Depinho and K. L. Kaplan, “The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations,” Medicine, vol. 64, no. 3, pp. 192–202, 1985. View at Google Scholar · View at Scopus
  66. P. J. Santiago Borrero, Y. Rodríguez-Pérez, J. Y. Renta et al., “Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico,” Journal of Investigative Dermatology, vol. 126, no. 1, pp. 85–90, 2006. View at Publisher · View at Google Scholar · View at Scopus
  67. C. J. Witkop, G. H. Rao, F. Gaudier et al., “Albinism and Hermansky-Pudlak syndrome in Puerto Rico,” Boletin de la Asociacion Medica de Puerto Rico, vol. 82, no. 8, pp. 333–339, 1990. View at Google Scholar · View at Scopus
  68. J. Jorizzo and J. Bolognia, Dermatology 2-Volume Set, Mosby, St. Louis, Mo, USA, 2007.
  69. M. M. Chediak, “New leukocyte anomaly of constitutional and familial character,” Revue d'Hématologie, vol. 7, no. 3, article 362, 1952. View at Google Scholar
  70. K. Fukai, M. Ishii, A. Kadoya, M. Chanoki, and T. Hamada, “Chediak-Higashi syndrome: report of a case and review of the Japanese literature,” The Journal of Dermatology, vol. 20, no. 4, pp. 231–237, 1993. View at Google Scholar · View at Scopus
  71. L. Montoliu, K. Grønskov, A. H. Wei et al., “Increasing the complexity: new genes and new types of albinism,” Pigment Cell & Melanoma Research, vol. 27, no. 1, pp. 11–18, 2014. View at Publisher · View at Google Scholar
  72. D. R. Simeonov, X. Wang, C. Wang et al., “DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics,” Human Mutation, vol. 34, no. 6, pp. 827–835, 2013. View at Publisher · View at Google Scholar · View at Scopus
  73. K. Balu and R. Purohit, “Mutational analysis of TYR gene and its structural consequences in OCA1A,” Gene, vol. 513, no. 1, pp. 184–195, 2013. View at Publisher · View at Google Scholar · View at Scopus
  74. B. Kamaraj and R. Purohit, “Computational screening of disease-associated mutations in oca2 gene,” Cell Biochemistry and Biophysics, vol. 68, no. 1, pp. 97–109, 2014. View at Publisher · View at Google Scholar · View at Scopus
  75. B. Kamaraj and R. Purohit, “In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3,” BioMed Research International, vol. 2013, Article ID 697051, 13 pages, 2013. View at Publisher · View at Google Scholar · View at Scopus
  76. V. M. Lopez, C. L. Decatur, W. D. Stamer, R. M. Lynch, and B. S. McKay, “L-DOPA is an endogenous ligand for OA1,” PLoS Biology, vol. 6, no. 9, article e236, 2008. View at Publisher · View at Google Scholar · View at Scopus
  77. A. Lavado, G. Jeffery, V. Tovar, P. de la Villa, and L. Montoliu, “Ectopic expression of tyrosine hydroxylase in the pigmented epithelium rescues the retinal abnormalities and visual function common in albinos in the absence of melanin,” Journal of Neurochemistry, vol. 96, no. 4, pp. 1201–1211, 2006. View at Publisher · View at Google Scholar · View at Scopus
  78. S. Murillo-Cuesta, J. Contreras, E. Zurita et al., “Melanin precursors prevent premature agerelated and noiseinduced hearing loss in albino mice,” Pigment Cell & Melanoma Research, vol. 23, no. 1, pp. 72–83, 2010. View at Publisher · View at Google Scholar
  79. A. Slominski, M. A. Zmijewski, and J. Pawelek, “L-tyrosine and L-dihydroxyphenylalanine as hormone-like regulators of melanocyte functions,” Pigment Cell and Melanoma Research, vol. 25, no. 1, pp. 14–27, 2012. View at Publisher · View at Google Scholar · View at Scopus
  80. A. Gargiulo, C. Bonetti, S. Montefusco et al., “AAV-mediated tyrosinase gene transfer restores melanogenesis and retinal function in a model of oculo-cutaneous albinism type 1 (OCA1),” Molecular Therapy, vol. 17, no. 8, pp. 1347–1354, 2009. View at Publisher · View at Google Scholar · View at Scopus
  81. E. M. Surace, L. Domenici, K. Cortese et al., “Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer,” Molecular Therapy, vol. 12, no. 4, pp. 652–658, 2005. View at Publisher · View at Google Scholar · View at Scopus
  82. I. F. Onojafe, D. R. Adams, D. R. Simeonov et al., “Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism,” The Journal of Clinical Investigation, vol. 121, no. 10, pp. 3914–3923, 2011. View at Publisher · View at Google Scholar · View at Scopus
  83. K. Fukai, H. Kunimoto, K. Nakajima et al., “In vitro analysis of read-through effect of aminoglycosides to tyrosinase R278X nonsense mutation in melan-c cells,” in Proceedings of the 24th Annual Meeting of the Japanese Society for Pigment Cell Research (JSPCR '12), vol. 25 of Pigment Cell Melanoma & Research, pp. 904–922, 2012.
  84. R. K. Sivamani, H. Goodarzi, M. S. Garcia et al., “Biologic therapies in the treatment of psoriasis: a comprehensive evidence-based basic science and clinical review and a practical guide to tuberculosis monitoring,” Clinical Reviews in Allergy and Immunology, vol. 44, no. 2, pp. 121–140, 2013. View at Publisher · View at Google Scholar · View at Scopus
  85. S. D. Fitzmaurice, R. K. Sivamani, and R. R. Isseroff, “Antioxidant therapies for wound healing: a clinical guide to currently commercially available products,” Skin Pharmacology and Physiology, vol. 24, no. 3, pp. 113–126, 2011. View at Publisher · View at Google Scholar · View at Scopus
  86. R. K. Sivamani, M. Ghiya, and H. I. Maibach, “Shedding light on sunscreens and their labels. Testing policies need to match actual use,” The American Journal of Preventive Medicine, vol. 38, no. 6, pp. 679–681, 2010. View at Publisher · View at Google Scholar · View at Scopus
  87. R. K. Sivamani, L. A. Crane, and R. P. Dellavalle, “The benefits and risks to ultraviolet (UV) tanning and it alternatives: the role of prudent sun exposure,” Dermatologic Clinics, vol. 27, no. 2, pp. 149–154, 2009. View at Publisher · View at Google Scholar · View at Scopus