Exhaustive mutation analysis and functional study of hereditary pigmentation disorders
| Project/Area Number |
16K19704
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Dermatology
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| Research Institution | Yamagata University |
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Principal Investigator |
Okamura Ken 山形大学, 医学部, 助教 (40637229)
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| Project Period (FY) |
2016-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | 遺伝性色素異常症 / 眼皮膚白皮症 / アルビノ / 遺伝性対側性色素異常症 / 遺伝性汎発性色素異常症 / ワールデンブルグ症候群 / エクソーム解析 / 次世代シークエンサー / OCA / exome / HPS / melanin / pigmentation disorder / genome editing / DSH / メラニン / 電子顕微鏡 / 遺伝子 / ゲノム / 医療・福祉 |
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| Outline of Final Research Achievements |
Hereditary pigmentation disorders (HPD) are a group of genetic disorders caused by mutations in genes associated with melanin synthesis or migration of melanocyte. Some of the subtypes are associated with severe complications, indicating that DNA-based diagnosis is very important. However, some patients with rare subtypes of HPD need exhaustive genetic examination. This time, we succeeded in diagnosing such patients using whole-exome sequencing (one of the methods of exhaustive genetic analyses) followed by analyzing their hair samples morphologically and chemically. The analysis of their hair samples provided us the impact of the dysfunctions of the mutated gene products on the maturation of melanosomes and melanin levels and composition.These results have been reported in an English journal.
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Report
(3 results)
Research Products
(4 results)
