2007 Fiscal Year Final Research Report Summary
Functional analyses of the genes in which mutations cause oculocutaneous albinisms
| 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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| Keywords | oculocutaneous albinism / Hermansky-Pudlak syndrome / melanin / melanosome / hereditary pigment disorders / gene diagnosis / proteome analysis |
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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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[Journal Article] Ten Novel Mutations of the ADARI Gene in Japanese Patients with Dyschromatosis Symmetrica Hereditaria2007
Author(s)
Suzuki N, Suzuki T, Inagaki K, Ito S, Kono M, Horikawa T, Fujiwara S, Ishiko A, Matsunaga K, Aoyama Y, Tosaki-Ichikawa H, and Tomita Y
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Journal Title
J Invest Dermatol 127
Pages: 309-311
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Oculocutaneous albinism type 4 : six novel mutations in the membrane-associated transporter protein gene(SLC45A2) and their phenotype2006
Author(s)
Inagaki K, Suzuki T, Ito S, Suzuki N, Adachi K, Okuyama T, Nakata Y, Shimizu H, Matsuura H, Oono T, Iwamatsu H, Kono M, and Tomita Y
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Journal Title
Pigment Cell Res 19
Pages: 451-453
Description
「研究成果報告書概要(欧文)」より
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[Book] スキンケア最前線2008
Author(s)
宮地良樹 編
Total Pages
234
Publisher
メデイカルレビュー社
Description
「研究成果報告書概要(和文)」より
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