Identification of Mendelian disease-causing genes by RNA sequencing

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K19536
• Research Category: Grant-in-Aid for Challenging Research (Exploratory)
• Allocation Type: Multi-year Fund
• Research Field: Biomedical structure and function and related fields
• Research Institution: Sagami Women's University (2019); Kanagawa Children's Medical Center (Clinical Research Institute) (2017-2018)
• Principal Investigator: Tsurusaki Yoshinori 相模女子大学, 栄養科学部, 准教授 (70392040)
• Project Period (FY): 2017-06-30 – 2020-03-31
• Keywords: RNAシークエンス / スプライス異常 / 発現変動遺伝子

Outline of Final Research Achievements

RNA samples derived from three patients with splice site mutation and six patients of unknown causes were examined by RNA sequencing (RNA-seq). RNA-seq detected aberrant splicing in three patients. On the other hand, RNA-seq failed to identification disease-causing genes in six patients.

Free Research Field

遺伝学

Academic Significance and Societal Importance of the Research Achievements

原因を特定することができない症例もあったが、発現変動遺伝子よりWESでは解析できなかった発現調節領域（プロモータ、UTRなど）の変異、スプライス異常の転写産物よりイントロンの変異を検出することによって、これまでとは異なった視点で疾患責任遺伝子の同定を行う本研究は大変意義があると考える。