Elucidation of pathogenesis of universal inherited melanodyschromatosis

2015 Fiscal Year Final Research Report

• 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