ArticleAmerican journal of human genetics1997
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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38 citing papers in PubMed, 149 citations in OpenAlex.
- Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.Annals of human genetics · 2025Review
- Inhibitory Effect of 505 nm Green Light Emitting Diode on Melanin Synthesis in Cellular Experiments and a Human Intervention Study.Acta dermato-venereologica · 2025Article
- Albinism research in a Southern African setting: unique findings.Journal of community genetics · 2025Review
- Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.Molecular vision · 2025Review
- The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.European journal of human genetics : EJHG · 2024Article
- PGC-based cryobanking, regeneration through germline chimera mating, and CRISPR/Cas9-mediated TYRP1 modification in indigenous Chinese chickens.Communications biology · 2024Article
- Impaired Direction Selectivity in the Nucleus of the Optic Tract of Albino Mice.Investigative ophthalmology & visual science · 2023Article
- Genetic architecture and evolution of color variation in American black bears.Current biology : CB · 2023Article
- In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3-related mutant variants.Protein science : a publication of the Protein Society · 2023Article
- Review
- Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).NPJ genomic medicine · 2022Article
- Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues.African journal of disability · 2022Article
- Two Novel HomozygousLife (Basel, Switzerland) · 2021Article
- Evolutionary genetics of skin pigmentation in African populations.Human molecular genetics · 2021Review
- Biophysical Compatibility of a Heterotrimeric Tyrosinase-TYRP1-TYRP2 Metalloenzyme Complex.Frontiers in pharmacology · 2021Article
- Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.Communications biology · 2020Article
- Article
- Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.Investigative ophthalmology & visual science · 2018Article
- Two Variants inG3 (Bethesda, Md.) · 2017Article
- Article
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6 authors at 3 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Oculocutaneous albinism (OCA) is the most common autosomal recessive disorder among southern African Blacks. There are three forms that account for almost all OCA types in this region. Tyrosinase-positive OCA (OCA2), which is the most common, affects approximately 1/3,900 newborns and has a carrier frequency of approximately 1/33. It is caused by mutations in the P gene on chromosome 15. Brown OCA (BOCA) and rufous OCA (ROCA) account for the majority of the remaining phenotypes. The prevalence of BOCA is unknown, but for ROCA it is approximately 1/8,500. Linkage analysis performed on nine ROCA families showed that ROCA was linked to an intragenic marker at the TYRP1 locus (maximum LOD score = 3.80 at straight theta=.00). Mutation analysis of 19 unrelated ROCA individuals revealed a nonsense mutation at codon 166 (S166X) in 17 (45%) of 38 ROCA chromosomes, and a second mutation (368delA) was found in an additional 19 (50%) of 38 chromosomes; mutations were not identified in the remaining 2 ROCA chromosomes. In one family, two siblings with a phenotypically unclassified form of albinism were found to be compound heterozygotes for mutations (S166X/368delA) at the TYRP1 locus and were heterozygous for a common 2.7-kb deletion in the P gene. These findings have highlighted the influence of genetic background on phenotype, in which the genotype at one locus can be influenced by the genotype at a second locus, leading to a modified phenotype. ROCA, which in southern African Blacks is caused by mutations in the TYRP1 gene, therefore should be referred to as "OCA3," since this is the third locus that has been shown to cause an OCA phenotype in humans.
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