Red or rufous albinism in Southern Africa

Kromberg, J. G. R.; Castle, D; Zwane, Esther; Bothwell, J. E.; Kidson, Susan H.; Bartel, Peter; Phillips, James I.; Jenkins, Trefor

doi:10.3109/13816819009020984

Cited by 45 publications

(24 citation statements)

References 8 publications

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“…Rufous OCA was initially reported in the Black population of Africa and Papua New Guinea (95,96). Brown and Rufous OCA have been identified in individuals with type III -V skin color only and are physically distinguished based on skin and hair color (96). Rufous OCA results in red-bronze skin color, ginger-red hair and blue or brown irises.…”

Section: Oculocutaneous Albinism In Humans (Oca3)mentioning

confidence: 99%

Tyrp1 and Oculocutaneous Albinism Type 3

Sarangarajan

Boissy

2001

Pigment Cell Research

113

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addition to its role in eumelanin synthesis, Tyrp1 is involved in Tyrosinase-related protein 1 (Tyrp1) is a melanocyte-specific maintaining stability of tyrosinase protein and modulating its gene product involved in eumelanin synthesis. Mutations in the catalytic activity. Tyrp1 is also involved in maintenance of mouse Tyrp1 gene are associated with brown pelage, and in the human TYRP1 gene with oculocutaneous albinism type 3 melanosome ultrastructure and affects melanocyte prolifera-(OCA3). In the murine system, Tyrp1 expresses significant tion and melanocyte cell death. The current review is an dihydroxyindole carboxylic acid oxidase (i.e. DHICA oxattempt to consolidate our understanding of the role of Tyrp1 idase) activity. However, in humans, TYRP1 is enigmatic in in the melanocyte. that despite extensive efforts focused on the study of its Key words: Pigmentation, Tyrosine hydroxylase, Brown/Rufunction, its actual role in the human melanocyte is still fous Albinism, Brown locus, Protein trafficking unclear. There is mounting evidence demonstrating that in Mutations in the genes encoding some of the enzymes and regulatory proteins involved in melanin synthesis result in various forms of oculocutaneous albinism (OCA). OCA1 correlates with mutations in the tyrosinase (TYR) gene (7). Most individuals with OCA1 have completely amelanotic skin, hair and eyes with the inability to tan (i.e. OCA1A). However, some nucleotide lesions of the TYR gene result in a partially functional enzyme so that individuals with this subtype of OCA1 can exhibit moderate levels of skin and hair pigmentation and the ability to tan (i.e. OCA1B). OCA2 correlates with mutations in the P gene (8). Individuals with OCA2 present with minimal to moderate amounts of pigment remaining in the skin, hair and eyes, many of whom can develop pigmented freckles, lentigines and/or nevi with age. OCA3 correlates with mutations in the TYRP1 gene (9). Individuals with OCA3 present with minimal pigment reduction in the skin, hair and eyes. This form of albinism was previously referred to as Rufous and possibly some forms of Brown albinism.

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Section: Oculocutaneous Albinism In Humans (Oca3)mentioning

confidence: 99%

Tyrp1 and Oculocutaneous Albinism Type 3

Sarangarajan

Boissy

2001

Pigment Cell Research

113

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“…27,28 The phenotype is characterized by red-toned hair and reddish-brown pigmented skin, and optical features are not as severe as in other forms of OCA. 29 OCA4 was first defined on presentation in one individual homozygous for a splice-site mutation within the SLC45A2 gene on chromosome 5p, with the phenotype consisting of generalized and ocular hypopigmentation similar to that seen in OCA2 patients. 30 OCA4 is one of the most common forms of albinism in the Japanese population.…”

Section: Introductionmentioning

confidence: 99%

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community

et al. 2009

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Oculocutaneous albinism type 2 (OCA2) is a human autosomal-recessive hypopigmentation disorder associated with pathological mutations of the OCA2 gene. In this study, we investigated a form of OCA in a Polynesian population with an observed phenotype characterized by fair skin, some brown nevi present in the sun-exposed areas and green or blue eyes. Hair presented with a unique red coloration since birth, with tones ranging across individuals from Yellow-Red to Brown-Red, or Auburn. We genetically screened for mutations in the OCA2 and MC1R genes as their products have previously been shown to be associated with red hair/fair skin and OCA2. The SLC45A2 gene was also screened to identify any possible relation to skin color variation. We have identified a novel missense substitution in the OCA2 gene (Gly775Asp) responsible for OCA2 in individuals of Polynesian heritage from Tuvalu. The estimated incidence of this form of OCA2 in the primary study community is believed to occur at one of the highest recorded rates of albinism at approximately 1 per 669 individuals. In addition, we have analyzed four unrelated individuals with albinism who have Polynesian heritage from three other separate communities and found they carry the same OCA2 mutation. We also analyzed an out-group comprising three unrelated individuals with albinism of Melanesian ancestries from two separate communities, one Australian Aboriginal and three Australian Caucasians, and did not detect this mutation. We hypothesize that this mutation may be Polynesian specific and that it originated from a common founder.

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“…Individuals with OCA3 are born with minimal pigmentation but develop increased pigment with time Manga et al, 1997]. The pigmentation changes in the skin, hair, and eyes, as well as the severity of the ocular involvement with OCA3, has not been as well documented as in OCA1 and OCA2, but the visual problems do not appear to be as severe in OCA3 as in other types of OCA [Kromberg et al, 1990].…”

Section: Introductionmentioning

confidence: 99%