Study of X chromosome inactivation in the monkey embryos

2020 Fiscal Year Final Research Report

• Project/Area Number: 18K06030
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 42040:Laboratory animal science-related
• Research Institution: Kyoto University
• Principal Investigator: okamoto ikuhiro 京都大学, 高等研究院, 特定講師 (40648424)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: カニクイザル / X染色体の不活性化 / ゲノム編集 / ノックアウト細胞

Outline of Final Research Achievements

X chromosome inactivation (XCI) is induced by non-coding XIST RNA in female mammal cells. How the human XIST RNA controls XCI is less well characterized. Here, we use genome engineering to delete the XIST segments, including repeat, the promotes and non-repetitive exons in the cynomolgus monkey fibroblast cell line. Clones containing promoter deletion that display no XIST RNAs and no H3K27me3 enrichment on the inactive X chromosome(Xi). However we did not observe up-regulation of X-linked genes. Collectively, these data are consistent with the report that XIST is not required to maintain X-linked gene silencing at the Xi. With our results, we may facilitate elucidation of XCI mechanisms in non-human primate in general.

Free Research Field

エピジェネティック

Academic Significance and Societal Importance of the Research Achievements

哺乳類の雌（XX）は発生初期に、２本のX染色体の１本上の遺伝子発現を協調的に不活性化（X Chromosome Inactivation : XCI）する。XCIはタンパク質に翻訳されないXIST RNAにより制御される。本研究成果は学術的にはヒトを含む霊長類のXCIにおけるXIST RNAの機能の一端を明らかにしたことに意義がる。社会的には女性特有のX連鎖遺伝病解明につながることに意義がある。