ArticleHuman genetics2003
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00808106 (Clinical, Cellular, and Molecular Investigations Into Oculocutaneous Albinism), which is not on this map. Cited by 62 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical, Cellular, and Molecular Investigations Into Oculocutaneous Albinism
Who cites it
62 citing papers in PubMed, 169 citations in OpenAlex.
- A rescue assay for genetic diagnosis of oculocutaneous albinism using melanocytic MNT1 knock-out cells.Frontiers in genetics · 2026Article
- Article
- Rare phenotypes of white coat color in Simmental calves: genetic causes of syndromic forms of albinism and depigmentation.Molecular genetics and genomics : MGG · 2025Article
- Genetic mutations disrupt the coordinated mode of tyrosinase's intra-melanosomal domain.Protein science : a publication of the Protein Society · 2025Article
- The Role of Two Tyrosinase-Like Glycoenzymes in Defining the Final Hue of Parrot Plumage.Pigment cell & melanoma research · 2025Article
- Human recombinant tyrosinase destabilization caused by the double mutation R217Q/R402Q.Protein science : a publication of the Protein Society · 2025Article
- Common Variants in theBiomedicines · 2024Article
- Genotype-Phenotype Correlation Model for the Spectrum ofDiagnostics (Basel, Switzerland) · 2024Article
- Genetic Linkage betweenInternational journal of molecular sciences · 2024Article
- A patient with albinism and retinitis pigmentosa, a case report.American journal of ophthalmology case reports · 2024Article
- Molecular Modeling of the Multiple-Substrate Activity of the Human Recombinant Intra-Melanosomal Domain of Tyrosinase and Its OCA1B-Related Mutant Variant P406L.International journal of molecular sciences · 2024Article
- Population Structure and Genomic Characterisation of the Ashanti Dwarf Pig of Ghana.Animals : an open access journal from MDPI · 2024Article
- Chromosome-level reference genome for North American bison (Bison bison) and variant database aids in identifying albino mutation.G3 (Bethesda, Md.) · 2023Article
- Evaluating the Cysteine-Rich and Catalytic Subdomains of Human Tyrosinase and OCA1-Related Mutants Using 1 μs Molecular Dynamics Simulation.International journal of molecular sciences · 2023Article
- Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.American journal of human genetics · 2023Article
- Article
- Decoding Race and Age-Related Macular Degeneration: GPR 143 Activity Is the Key.Advances in experimental medicine and biology · 2023Article
- The Mechanisms of Fur Development and Color Formation in American Mink Revealed Using Comparative Transcriptomics.Animals : an open access journal from MDPI · 2022Article
- Genetic analyses of Vietnamese patients with oculocutaneous albinism.Journal of clinical laboratory analysis · 2022Article
- Review
2 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
Abstract
Oculocutaneous albinism (OCA) is a common human genetic condition resulting from mutations in at least twelve different genes. OCA1 results from mutations of the tyrosinase gene and presents with the life-long absence of melanin pigment after birth (OCA1A) or with the development of minimal-to-moderate amounts of cutaneous and ocular pigment (OCA1B). Other types of OCA have variable amounts of cutaneous and ocular pigment. We hypothesized that white hair at birth indicates OCA1 and tested this in a sample of 120 probands with OCA and white hair at birth. We found that 102 (85%) of the probands had OCA1 with one or two identifiable tyrosinase gene mutations, with 169 (83%) of the 204 OCA1 tyrosinase gene alleles having identifiable mutations and 35 (17%) having no identifiable change in the coding, splice junction, or proximal promoter regions of the gene. The inability to identify the mutation was more common with OCA1B (24/35, 69%) than with OCA1A (11/35, 31%) alleles. Seven probands with no tyrosinase gene mutations were found to have OCA2 with one or two P gene mutations, and in eleven, no mutations were detected in either gene. We conclude that (1) the presence of white hair at birth is a useful clinical tool suggesting OCA1 in a child or adult with OCA, although OCA2 may also have this presentation; (2) the molecular analysis of the tyrosinase and P genes are necessary for precise diagnosis; and (3) the presence of alleles without identifiable mutations of the tyrosinase gene, particularly in OCA1B, suggests that more complex mutation mechanisms of this gene are common in OCA.
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