| Project/Area Number |
18390312
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Yamagata University |
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Principal Investigator |
SUZUKI Tamio Yamagata University, School of Medicine, Department of Dermatology, Professor (30206502)
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| Co-Investigator(Kenkyū-buntansha) |
KONO Michihiro Nagoya University, Graduate School of Medicine Department of dermatology, Assistant Professor (60319324)
安江 敬 名古屋大学, 医学部・附属病院, 助教 (40335039)
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| Project Period (FY) |
2006 – 2007
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| Project Status |
Completed (Fiscal Year 2007)
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| Budget Amount *help |
¥13,520,000 (Direct Cost: ¥12,200,000、Indirect Cost: ¥1,320,000)
Fiscal Year 2007: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
Fiscal Year 2006: ¥7,800,000 (Direct Cost: ¥7,800,000)
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| Keywords | oculocutaneous albinism / Hermansky-Pudlak syndrome / melanin / melanosome / hereditary pigment disorders / gene diagnosis / proteome analysis / 遺伝子 / 遺伝学 / プロテオーム / 遺伝病 |
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| Research Abstract |
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.
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