The Tyrosinase Gene and Oculocutaneous Albinism Type 1 (OCA1): A Model for Understanding the Molecular Biology of Melanin Formation

Oetting, William S.

doi:10.1034/j.1600-0749.2000.130503.x

Cited by 191 publications

(133 citation statements)

References 42 publications

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“…At present, over 90 mutations of the tyrosinase gene associated with OCA1 have been described (Oetting 2000), and common mutations occur by ethnic group. For example, the P81L and T373K were observed in 25%-30% of northern Europeans (Spritz 1993;Spritz et al 1997), and the R77Q and 929insC (P310insC) are common in Korean (Park et al 1996(Park et al , 1997 and Japanese individuals .…”

Section: Discussionmentioning

confidence: 99%

“…In 1989, we reported, for the first time, a pathologic mutation of the tyrosinase gene in a patient with OCA1A . Since then, a large number of tyrosinase gene mutations associated with OCA1 have been reported (Oetting 2000). In addition to pathological mutations, several polymorphic sequences of the tyrosinase gene were reported (Figure 1).…”

Section: Introductionmentioning

confidence: 99%

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Polymorphic sequences of the tyrosinase gene: allele analysis on 16 OCA1 patients in Japan indicate that three polymorphic sequences in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis

et al. 2002

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Since 1989, a large number of mutations of the tyrosinase gene, which result in oculocutaneous albinism (OCA), have been reported. However, approximately 15% of patients with tyrosinase-related OCA (OCA1) heterozygously carried an uncharacterized mutation, which presumably existed outside of the ordinarily examined area of the tyrosinase gene. In such cases, polymorphic sequence(s) of the tyrosinase gene might be useful to identify the OCA1 allele. In this study, we examined four polymorphic sequences of the tyrosinase gene in 16 patients with OCA1, their relatives, and 108 normally pigmented Japanese individuals. The results showed a complex dinucleotide repeat in the promoter region at Ϫ800 to Ϫ900 of seven different lengths, and a polythymidine sequence in the 3Ј end of intron 2 of three different lengths. Polymerase chain reaction-restriction fragment length polymorphism analysis of two polymorphic sequences at Ϫ301 (C/T) and Ϫ199 (C/A) in the promoter region allows us to classify the tyrosinase gene into three groups. Using these polymorphic sequences, we could identify the OCA1 allele in more than 80% of cases in which the parents' genomic DNA was available. Three polymorphic sequences in the tyrosinase gene promoter are particularly useful for this purpose.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Polymorphic sequences of the tyrosinase gene: allele analysis on 16 OCA1 patients in Japan indicate that three polymorphic sequences in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis

et al. 2002

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“…This would be consistent with the observed slow decay of Ty oxy to Ty met in fresh preparations of S. antibioticus Ty red . 2 The large difference between the Ty red and Ty oxy quantum yield has been used to study the binding of molecular oxygen to the reduced enzyme (Fig. 3).…”

Section: Discussionmentioning

confidence: 99%

“…Tyrosinases are involved in the rate-limiting step in the synthesis of melanin pigments, which fulfill various roles in living organisms. In mammals, melanins are responsible for skin, eye, inner ear, and hair pigmentation, and defects in Ty are related to a range of medical conditions like type I human oculocutaneous albinism (1,2). In fruits and mushrooms, melanin formation is responsible for the browning of tissue occurring after bruising or long storage time (3), and in insects it is thought that melanins assist in wound healing and sclerotization of the cuticle (4).…”

mentioning

confidence: 99%

Stopped-flow Fluorescence Studies of Inhibitor Binding to Tyrosinase from Streptomyces antibioticus

Tepper

Bubacco

Canters

2004

Journal of Biological Chemistry

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“…In humans, four forms of ocular and cutaneous albinism have been described and characterized, including: OCA1 (tyrosinase, tyr; ref. 16 …”

Section: Gene Position In Astyanax Is Reliably Predicted By Homologoumentioning

confidence: 99%

Synteny and candidate gene prediction using an anchored linkage map of Astyanax mexicanus

Gross

Protas

Conrad

et al. 2008

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

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The blind Mexican cave tetra, Astyanax mexicanus, is a unique model system for the study of parallelism and the evolution of cave-adapted traits. Understanding the genetic basis for these traits has recently become feasible thanks to production of a genome-wide linkage map and quantitative trait association analyses. The selection of suitable candidate genes controlling quantitative traits remains challenging, however, in the absence of a physical genome. Here, we describe the integration of multiple linkage maps generated in four separate crosses between surface, cave, and hybrid forms of A. mexicanus. We performed exhaustive BLAST analyses of genomic markers populating this integrated map against sequenced genomes of numerous taxa, ranging from yeast to amniotes. We found the largest number of identified sequences (228), with the most expect (E) values <10 ؊5 (95), in the zebrafish Danio rerio. The most significant hits were assembled into an ''anchored'' linkage map with Danio, revealing numerous regions of conserved synteny, many of which are shared across critical regions of identified quantitative trait loci (QTL). Using this anchored map, we predicted the positions of 21 test genes on the integrated linkage map and verified that 18 of these are found in locations homologous to their chromosomal positions in D. rerio. The anchored map allowed the identification of four candidate genes for QTL relating to rib number and eye size. The map we have generated will greatly accelerate the production of viable lists of additional candidate genes involved in the development and evolution of cave-specific traits in A. mexicanus.sequence homology ͉ physical genome ͉ evolution ͉ quantitative trait locus

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The Tyrosinase Gene and Oculocutaneous Albinism Type 1 (OCA1): A Model for Understanding the Molecular Biology of Melanin Formation

Cited by 191 publications

References 42 publications

Polymorphic sequences of the tyrosinase gene: allele analysis on 16 OCA1 patients in Japan indicate that three polymorphic sequences in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis

Polymorphic sequences of the tyrosinase gene: allele analysis on 16 OCA1 patients in Japan indicate that three polymorphic sequences in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis

Stopped-flow Fluorescence Studies of Inhibitor Binding to Tyrosinase from Streptomyces antibioticus

Synteny and candidate gene prediction using an anchored linkage map of Astyanax mexicanus

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