Six Novel P Gene Mutations and Oculocutaneous Albinism Type 2 Frequency in Japanese Albino Patients

Suzuki, Tamio; Miyamura, Yoshinori; Matsunaga, Jun; Shimizu, Hiroshi; Kawachi, Yasuhiro; Ohyama, Naoko; Ishikawa, Osamu; Ishikawa, Takeko; Terao, Haruhiko; Tomita, Yasushi

doi:10.1046/j.1523-1747.2003.12127.x

Cited by 30 publications

(29 citation statements)

References 22 publications

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“…Direct sequencing of aberrant bands found with the SSCP screening method finally detected compound heterozygous P gene mutations, M394I (ATG→ATA) and A481T (GCC→ACC; fig. 2), which had already been reported in previous studies [4, 5]. …”

Section: Case Reportsupporting

confidence: 83%

“…More than 50 different mutations of the P gene have been reported. The M394I mutant allele, which was found in the present case, has been found in Japanese patients of OCA2 with no or very low functional activity in melanogenesis [4]. On the other hand, the A481T mutant allele has been described to have approximately 70% functional activity in melanogenesis compared with that of the normal allele based on the results of a transfection experiment of p null mouse melanocytes with the A481T mutant P cDNA [9].…”

Section: Discussionmentioning

confidence: 67%

“…OCA2 is the most common type of albinism and accounts for approximately 50% of OCA worldwide, although its frequency in all OCA patients in Japan is approximately 8% [4, 6]. Type 1 and type 4 are more frequent in the Japanese population (47 and 23%, respectively) [7].…”

Section: Discussionmentioning

confidence: 99%

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A Patient with Subclinical Oculocutaneous Albinism Type 2 Diagnosed on Getting Severely Sunburned

Kawai¹,

Suzuki²,

Ito³

et al. 2005

Dermatology

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P-gene-related oculocutaneous albinism (OCA2) is an autosomal recessive disorder. The phenotype is typically somewhat less severe than that of the tyrosinase-negative type (OCA1A). One of the mutations in the P gene, A481T, is associated with a mild phenotype, occasionally with no distinctive skin manifestations, which is called subclinical OCA. We present a Japanese patient having the A481T mutant allele in the P gene with subclinical oculocutaneous albinism diagnosed on getting severely sunburned. The A481T mutant allele is relatively common in the Caucasian population as well as in Japan, indicating that a number of subclinical patients of OCA2 might exist not only in Japan, but also all over the world.

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Section: Case Reportsupporting

confidence: 83%

Section: Discussionmentioning

confidence: 67%

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A Patient with Subclinical Oculocutaneous Albinism Type 2 Diagnosed on Getting Severely Sunburned

Kawai¹,

Suzuki²,

Ito³

et al. 2005

Dermatology

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“…In addition, to date, several potential functions, such as a membrane transporter of a substrate [26] and a sorter of tyrosinase to the melanosome [27], have been proposed for the P protein. Mutations in the P gene are associated with oculocutaneous albinism type II (OCA2), which is the most common type of human albinism [28][29][30][31], and phenotypic variations in human iris color [32,33].…”

Section: Introductionmentioning

confidence: 99%

Variants of the melanocortin 1 receptor gene (MC1R) and P gene as indicators of the population origin of an individual

Masui¹,

Nakatome

Matoba

2008

Int J Legal Med

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The population origin of an individual is often requested to be determined from specimens left at a crime scene for identifying a suspect and individual identity. The melanocortin 1 receptor gene (MC1R) and P gene are associated with human pigmentation. Although several studies have reported that these genes are highly polymorphic in human populations, it is unclear if the allele variants can be used to determine the population origin of an individual. We aimed to determine the ethnic origin of an individual by using single nucleotide polymorphisms (SNPs). Eighteen SNPs in the MC1R gene and P genes were genotyped in 52 individuals by the direct sequencing method, and 4 SNPs (MC1R gene: R163Q and P gene: IVS5 + 1001, IVS13 + 113, and H615R) were selected on the basis of differences in frequencies. Subsequently, we genotyped these four SNPs in 422 volunteers from six ethnically defined populations using a polymerase chain reaction-based assay. The results revealed that the allele variants were present with high frequencies in Asian populations but were low in European and African populations. On the basis of these results, we defined a specific combination of a genotype (R163Q) and a diplotype group (IVS5 + 1001, IVS13 + 113, and H615R). This study indicates that the specific combination of a genotype and a diplotype group would be effective in estimating the population origin of an individual from a list of population groups.

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“…A c.G1559A (Ala481Thr; unregistered in Entrez SNP) mutation in exon 14 was first discovered as a compound heterozygote in a European-American patient with apparent autosomal recessive ocular albinism, and its frequency was estimated to be 0.01 in the testing of 50 unrelated normal Caucasian subjects (Lee et al 1994). Thereafter, this mutant allele, OCA2*481Thr, has sporadically been observed in Japanese OCA2 patients (Saitoh et al 2000;Kato et al 2003;Suzuki et al 2003a;Kawai et al 2005;Ito et al 2006) and a German patient with congenital cataract and macular hypoplasia (Graw et al 2006). A transfection study showed that OCA2*481Thr had approximately 70% function of the wild type allele in melanogenesis and confirmed it was a relatively mild OCA2 allele (Sviderskaya et al 1997).…”

Section: Introductionmentioning

confidence: 99%

OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations

et al. 2007

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Asians as well as Europeans have light skin, for which no genes to date are known to be responsible. A mutation, Ala481Thr (c.G1559A), in the oculocutaneous albinism type II (OCA2) gene has approximately 70% function of the wild type allele in melanogenesis. In this study, the distribution of the mutation was investigated in a total of 2,615 individuals in 20 populations from various areas. OCA2*481Thr prevailed almost exclusively in a northeastern part of Asia. The allele frequency was highest in Buryat (0.24) in Mongolia and showed a north-south downward geographical gradient. These findings suggest that OCA2*481Thr arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations.

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Six Novel P Gene Mutations and Oculocutaneous Albinism Type 2 Frequency in Japanese Albino Patients

Cited by 30 publications

References 22 publications

A Patient with Subclinical Oculocutaneous Albinism Type 2 Diagnosed on Getting Severely Sunburned

A Patient with Subclinical Oculocutaneous Albinism Type 2 Diagnosed on Getting Severely Sunburned

Variants of the melanocortin 1 receptor gene (MC1R) and P gene as indicators of the population origin of an individual

OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations

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