A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

Giebel, Lutz B.; Strunk, Kathleen M.; King, Richard A.; Hanifin, Jon M.; Spritz, Richard A.

doi:10.1073/pnas.87.9.3255

Cited by 69 publications

(26 citation statements)

References 17 publications

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“…The identity of Tyrp1 was clarified soon afterward, with the cloning of authentic human and mouse tyrosinase (TYR, Tyr) sequences (29,30). Completion of these sequences was followed rapidly by the identification of tyrosinase mutations in human oculocutaneous albinism type 1 (31,32) and the common albino mouse (33). This was another landmark, the identification of the first color mutation in human and mouse.…”

Section: Melanosomal Componentsmentioning

confidence: 99%

The Color Loci of Mice – A Genetic Century

Bennett

Lamoreux

2003

Pigment Cell Research

445

381

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Color loci in mammals are those genetic loci in which mutations can affect pigmentation of the hair, skin, and/or eyes. In the mouse, over 800 phenotypic alleles are now known, at 127 identified color loci. As the number of color loci passed 100 only recently, we celebrate this ÔcenturyÕ with an overview of these loci, especially the 59 that have been cloned and sequenced. These fall into a number of functional groups representing melanocyte development and differentiation, melanosomal components, organelle biogenesis, organelle transport, control of pigment-type switching, and some systemic effects. A human ortholog has been identified in all cases, and the majority of these human genes are found to be loci for human disorders, often affecting other body systems as well as pigmentation. We expect that a significant number of color loci remain to be identified. Nonetheless, the large number known already provide a treasury of resources for reconstruction of the mechanisms, at the subcellular, cellular and tissue levels, that produce a functional pigmentary system and contribute to the normal development and functioning of many other organ systems. The mutant mice also provide valuable models for the study of human disease.

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Section: Melanosomal Componentsmentioning

confidence: 99%

The Color Loci of Mice – A Genetic Century

Bennett

Lamoreux

2003

Pigment Cell Research

445

381

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“…The availability of tyrosinase cDNA enabled us and others to identify mutations in human and murine tyrosinase-negative albinos (10)(11)(12)(13)(14). In this report, we show a mutation in the tyrosinase gene of a tyrosinase-negative albino patient that resulted in an inactive enzyme with an altered carboxyl terminus.…”

mentioning

confidence: 75%

“…In that case, it was not demonstrated that the albino melanocytes produced the predicted truncated tyrosinase. Another tyrosinase gene mutation was reported by Giebel et al (13) in 6 out of 30 unrelated tyrosinase-negative albinos, where a change from C to T (CCT --CTT) at codon 81 (codon 63 of the Pmel34A sequence, Fig. 3) would result in a substitution of leucine for proline.…”

Section: Discussionmentioning

confidence: 99%

A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

Chintamaneni

Halaban

Kobayashi

et al. 1991

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

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We have determined a molecular defect to be the likely basis for inactivity of the tyrosinase (EC 1.14.18.1) from a patient with tyrosinase-negative oculocutaneous albinism. A single base (thymine) was inserted in exon 5 of the tyrosinase gene following codon 471 in the putative transmembrane coding region. This insertion caused a shift in the reading frame of 19 amino acids at the 3' end and introduced a premature termination signal that would be expected to truncate the protein by 21 amino acids at the carboxyl terminus. The albino tyrosinase was not recognized by antibodies directed to the carboxyl terminus of tyrosinase. Furthermore, as shown by gel electrophoresis of the immunoprecipitated protein, the tyrosinase was =3 kDa smaller than normal. Similar immunoprecipitation data were obtained when cloned normal and mutant tyrosinases were expressed in COS-1 cells.

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“…As expected from PAX3's interactions, mutations in SOX10 can cause a WS2 phenotype as well; WS2E (#611584) was identified in 2009 in a boy who had the WS2 phenotype plus neurological manifestations, including Tyrosinase crucially catalyses the conversion of tyrosine to DOPAquinone, the precursor for both eumelanin and pheomelanin. Complete loss of tyrosinase activity causes oculocutaneous albinism type 1 (OCA1A, #203100), an autosomal recessive disorder in which pigment is completely absent from the integument and the eyes [23]. A further defining characteristic is misrouting of the optic nerves, which manifests outwardly in the eyes moving to and fro rhythmically, a movement known as nystagmus.…”

Section: Introductionmentioning

confidence: 99%

“…In people with reduced tyrosinase activity, logically, some pigment will still be formed and they consequently have the so-called "yellow" type of albinism (OCA1B, #606952) [24].…”

Section: Introductionmentioning

confidence: 99%

Making the invisible visible

Steensel

2016

Seminars in Cell & Developmental Biology

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In this review, I will discuss how careful scrutiny of genetic skin disorders could help us to understand human biology. Like other organs, the skin and its appendages, such as hairs and teeth, experience fundamental biological processes ranging from lipid metabolism to vesicular transport and cellular migration. However, in contrast to other organ systems, they are accessible and can be studied with relative ease. By visually revealing the functional consequences of single gene defects, genetic skin diseases offer a unique opportunity to study human biology. Here, I will illustrate this concept by discussing how human genetic disorders of skin pigmentation reflect the mechanisms underlying this complex and vital process.

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A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

Cited by 69 publications

References 17 publications

The Color Loci of Mice – A Genetic Century

The Color Loci of Mice – A Genetic Century

A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

Making the invisible visible

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