Physiological functions of gene regulatory networks driven by endogenous retroviruses

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K15767
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 43050:Genome biology-related
• Research Institution: The University of Tokyo
• Principal Investigator: Ito Jumpei 東京大学, 医科学研究所, 助教 (20835540)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: 遺伝子発現調節ネットワーク / トランスポゾン / 内在性レトロウイルス / 進化

Outline of Final Research Achievements

Gene regulatory networks controlling germ cell development have diversified significantly during mammalian evolution, suggesting that they have been fine-tuned during evolution. In this study, we show that LTR5_Hs, an ape-specific ERVs, may have modified the gene regulatory network in primordial germ cells. LTR5_Hs was active as an enhancer in human primordial germ cells established from iPS cells. Furthermore, interspecies comparative transcriptome analysis revealed that the insertion of LTR5_Hs likely altered the gene expression regulatory network in primordial germ cells by creating an ape-specific enhancer.

Free Research Field

ゲノム生物学

Academic Significance and Societal Importance of the Research Achievements

生物の形質の進化は、遺伝子配列における変異だけでなく、遺伝子発現制御配列における変異により引き起こされることが知られている。本研究では、配列中に様々な転写調節エレメントを有し、遺伝子のプロモーターやエンハンサーとして働く内在性レトロウイルス（ERV）が、類人猿の進化過程においてゲノムの中で大量に増殖したことで、生殖細胞で働く遺伝子制御ネットワークが大きく書き換えられた可能性を示した。