2015 Fiscal Year Final Research Report
Elucidation of pathogenesis of universal inherited melanodyschromatosis
Project/Area Number |
26670526
|
Research Category |
Grant-in-Aid for Challenging Exploratory Research
|
Allocation Type | Multi-year Fund |
Research Field |
Dermatology
|
Research Institution | Nagoya University |
Principal Investigator |
SUGIURA Kazumitsu 名古屋大学, 医学(系)研究科(研究院), 准教授 (70335032)
|
Co-Investigator(Renkei-kenkyūsha) |
KOSHIKAWA Naohiko 東京大学, 医科学研究所, 准教授 (70334282)
|
Project Period (FY) |
2014-04-01 – 2016-03-31
|
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 |
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.
|
Free Research Field |
皮膚科学
|