| Project/Area Number |
26670526
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Dermatology
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| Research Institution | Nagoya University |
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Principal Investigator |
SUGIURA Kazumitsu 名古屋大学, 医学(系)研究科(研究院), 准教授 (70335032)
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| Co-Investigator(Renkei-kenkyūsha) |
KOSHIKAWA Naohiko 東京大学, 医科学研究所, 准教授 (70334282)
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2014: ¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
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| Keywords | 遺伝性全身性メラニン色素異常症 / 常染色体優性遺伝形式 / 遺伝性皮膚疾患 / 全エクソームシークエンス / 病因遺伝子同定 / c-kit / 全エクソームシーケンス法 / 色素異常症 / リン酸化酵素 / メラノサイト / 電子顕微鏡 |
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| Outline of Final Research Achievements |
Universal inherited melanodyschromatosis (UIM) , a provisional name of a skin disease, is a rare autosomal dominant disorder. In this study, we identified a causative gene of gene X for UIM by whole exome sequencing method using the fisrt Japanese UIM large family. In addition, we conducted melanin synthesis analysis with a melanoma cell line in order to realize a function of gene X for malanin synthesis.
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