Genome-Wide Analysis of Chromatin Interactions and Structural Variants in the Japanese Population Towards the Discovery of Disease-Related Factors

2023 Fiscal Year Final Research Report

• Project/Area Number: 21H02681
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Review Section: Basic Section 48040:Medical biochemistry-related
• Research Institution: Kyushu University (2023); Kyoto University (2021-2022)
• Principal Investigator: Nagasaki Masao 九州大学, 生体防御医学研究所, 教授 (90396862)
• Co-Investigator(Kenkyū-buntansha): 河合 洋介 国立研究開発法人国立国際医療研究センター, その他部局等, 副プロジェクト長 (30435515) ; 大川 恭行 九州大学, 生体防御医学研究所, 教授 (80448430)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: 構造多型 / 長鎖型シークエンサ / 大規模ゲノム情報解析 / クロマチン構造

Outline of Final Research Achievements

By combining measurement technologies that capture genome-wide chromatin accessibility and interaction profiles from short-read sequencing and whole-genome long-read sequencing, which provides structural polymorphism profiles, this research advanced the study of the differences in genome-wide chromatin accessibility among the Japanese population. It also explored how specific polymorphisms -including single nucleotide polymorphisms and structural variants- affect chromatin interactions on chromosomes. One outcome of this research was identifying and functionalizing a novel fusion gene in the Leukocyte Immunoglobulin-Like Receptor (LILR) region (Hirayasu et al. Frontiers in Immunology 2023). Furthermore, this work has led to the development of the key database development concept of the JoGo database in future (https://jogo.csml.org/).

Free Research Field

バイオインフォマティクス

Academic Significance and Societal Importance of the Research Achievements

この研究では、クロマチンアクセシビリティと長鎖型シークエンシングを組み合わせて、日本人集団の染色体上の構造多型の特定やクロマチン相互作用の違いを解析しました。研究期間内に新規のLILR領域の融合遺伝子を特定し、その影響を解明することができました。同研究基盤をさらに推進することで、他の遺伝子の遺伝学的多様性の理解を深めるとともに、将来の医学研究において重要なリソースの１つとなります。