Functional analyses of the genes in which mutations cause oculocutaneous albinisms

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We have investigated the regulation mechanisms of melanogenesis and biosynthesis of melanosomes with both of clinical and basic methods.Clinically, we have analyzed 53 patients with oculocutaneous albinism (OCA) for 2 years, and identified the genes causing OCA in 28 patients. And we also analyzed 6 genes of the patients including DCT, RAB38, RAB7, SILV, SLC7A11, MLPH, which had been identified as the genes causing pigment disorders only in the model mice, but not in human patients. However, we failed to find any pathologic mutations. Furthermore, we identified a large deletion mutant in TYR gene in a family with quantitative real-time PCR. This method turned out to be useful for analyzing the large deletion mutant.Basically, we clarified that BLOC3 complex were composed of the products of Hermansky-Pudlak type 1 gene (HPS1) and HPS4 gene with the proteome analysis.