The Molecular Genetics of Albinism and Piebaldism

Tomita, Yasushi

doi:10.1001/archderm.1994.01690030087014

Cited by 22 publications

(13 citation statements)

References 21 publications

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“…The biosynthesis of melanin pigments involves a family of enzymes, including tyrosinase, tyrosinase-related-protein 1 (TRP-1), and tyrosinase-related-protein 2 (TRP-2) (1). Of these, tyrosinase (EC 1.14.18.1) is the principal enzyme, and mutations of the tyrosinase gene have been documented in various forms of albinism (2,3).…”

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confidence: 99%

Immunophenotyping of melanomas for tyrosinase: implications for vaccine development.

Chen

Stockert

Tsang

et al. 1995

Proc. Natl. Acad. Sci. U.S.A.

160

104

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Tyrosinase (EC 1.14.18.1), the key enzyme in melanin synthesis, has been shown to be one of the targets for cytotoxic T-cell recognition in melanoma patients. To develop serological reagents useful for immunophenotyping melanoma for tyrosinase, human tyrosinase cDNA was expressed in an Escherichia coli expression vector. The purified recombinant tyrosinase was used to generate mouse monoclonal and rabbit polyclonal antibodies. The prototype monoclonal antibody, T311, recognized a cluster of protein moieties ranging from 70 to 80 kDa in tyrosinase mRNA-positive melanoma cell lines and melanoma specimens as well as in L cells transfected with tyrosinase cDNA. Untransfected L cells and L cells transfected with tyrosinase-related protein 1, TRP-1(gp75), were nonreactive. Immunohistochemical analysis of melanomas with T311 showed tyrosinase in melanotic and amelanotic variants, and tyrosinase expression correlated with the presence of tyrosinase mRNA. Melanocytes in skin stained with T311, whereas other normal tissues tested were negative. The expression pattern of three melanosome-associated proteins-tyrosinase, TRP-l(gp75), and gplOO-in melanoma was also compared. Tyrosinase and gplOO are expressed in a higher percentage of melanomas than TRP-1(gp75), and the expression of these three antigens was discordant. Tyrosinase expression within individual tumor specimen is usually homogenous, distinctly different from the commonly observed heterogenous pattern of gplOO expression.Cutaneous melanin pigments are synthesized by melanocytes.

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mentioning

confidence: 99%

Immunophenotyping of melanomas for tyrosinase: implications for vaccine development.

Chen

Stockert

Tsang

et al. 1995

Proc. Natl. Acad. Sci. U.S.A.

160

104

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“…Falabella et al showed that minigrafting can be an effective supplementary procedure to restore complete repigmentation (approximately 100%) when areas of achromia still remain after skin graft has been performed through other techniques. 5 The micropunch (1 to 1.25 mm) transplantation technique is an easy and inexpensive method which, based on our observations, has excellent aesthetic results and practically no complications. This case report shows the importance of melanocyte transplantation to treat lesions of piebaldism.…”

Section: Discussionmentioning

confidence: 78%

“…4 In a study, the minigrafting technique showed the highest levels of adverse effects; however, it was the easiest and most inexpensive procedure, since it does not require special equipment or laboratory, and it takes approximately 45 minutes for 50 cm 2 . 5 In receptor areas, a cobblestone appearance is a considerable adverse effect of the minigrafting technique when punches larger than 1.25 mm are used. This can be avoided with a more superficial punch in the donor area and a deeper punch in the receptor site.…”

Section: Discussionmentioning

confidence: 99%

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Transplante de melanócitos no piebaldismo: relato de caso

Neves

Júnior

Oliveira

et al. 2010

An. Bras. Dermatol.

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Piebaldism is a rare genodermatosis in which depigmented skin areas are unresponsive to topical or light treatment. This article describes the importance of transplant techniques using noncultured melanocytes (minigrafting) in the treatment of piebaldism. Keywords: Melanocytes; Piebaldism; Transplantation Resumo: O piebaldismo é uma genodermatose rara onde as lesões acrômicas não respondem aos tratamentos tópico e fototerápico. Este artigo tem como objetivo demonstrar a importância do transplante de melanócitos, usando a técnica de minigrafting no tratamento do piebaldismo.

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“…The predicted amino acid sequence of the gene also contains a leader signal peptide and a transmembrane domain (69, 91), consistent with it being a protein anchored to the membrane of the melanosomes. It also codes for a short C-terminal cytosolic tail, which is needed for correct localization of protein to the melanosomal compartment Mutations of the tyrosinase gene have been documented in various forms of albinism (79,111,112). The disease is called oculocutaneous albinism (OCA) 1 and since tyrosinase is absolutely required for melanin biosynthesis, this is the most severe phenotype of all four currently known OCAs, resulting in virtually complete knockout of its function.…”

Section: Background Tyrosinasementioning

confidence: 99%