Detection of novel LINE-1 insertion in prefrontal cortex of patients with schizophrenia

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09801
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: Kumamoto University (2016-2017); The University of Tokyo (2015)
• Principal Investigator: Bundo Miki 熊本大学, 大学院生命科学研究部(医), 准教授 (00597221)
• Co-Investigator(Renkei-kenkyūsha): IWAMOTO Kazuya 熊本大学, 大学院生命科学研究部, 教授 (40342753) ; KASAI Kiyoto 東京大学, 医学部付属病院, 教授 (80322056) ; KATO Tadafumi 理化学研究所, 脳科学研究センター, チームリーダー (30214381)
• Research Collaborator: UEDA Junko ; KIYOTA Emi
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 統合失調症 / 死後脳 / LINE-1 / レトロトランスポゾン

Outline of Final Research Achievements

We recently reported that the copy number of long interspersed nucleotide element (LINE-1) retrotransposon was higher in the neurons of patients with schizophrenia than in the neurons of healthy controls. The purpose of this study is to detect the somatic insertion sites of LINE-1 using human postmortem brains. We developed a new method to identify the brain-specific LINE-1 insertion genomic site. Using this method, we detected 83.8% (720/859) of LINE-1 found in the reference human genome sequence (hg38) and 30-80 of unknown non-reference somatic LINE-1 insertions in single neuronal nuclei from prefrontal cortex of a human without any psychiatric diseases. We have been conducting a case-control study using postmortem brain samples from patients with schizophrenia and controls to clarify the role of somatic LINE-1 insertions in the pathogenesis of schizophrenia.

Free Research Field

分子精神医学