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2019 Fiscal Year Final Research Report

Complete elucidation of Transcriotional regulation of ABO gene

Research Project

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Project/Area Number 17H05079
Research Category

Grant-in-Aid for Young Scientists (A)

Allocation TypeSingle-year Grants
Research Field Legal medicine
Research InstitutionGunma University

Principal Investigator

Rie Sano  群馬大学, 大学院医学系研究科, 准教授 (70455955)

Project Period (FY) 2017-04-01 – 2020-03-31
KeywordsABO式血液型 / ABO遺伝子 / 遺伝学 / 転写調節
Outline of Final Research Achievements

To elucidate the transcriptional regulation of the ABO gene, we generated hematopoietic or epithelial cell-specific enhancer region deletion cell lines using the CRISPR/Cas system. These cells were used for RNA sequencing and real-time PCR to determine which genes were down-regulated compared to the wild type. The epithelial cell-specific enhancer region deletion cell line using KATOIII gastric cancer cells showed decreased expression of the ABO gene and the OBP2B gene, which is downstream of the ABO gene. These results indicate that the ABO gene is transcriptionally regulated, including sharing of enhancers and regulation of gene expression via higher order structure of chromosomes.

Free Research Field

法医学 人類遺伝学

Academic Significance and Societal Importance of the Research Achievements

ABO式血液型は輸血医療および個人識別の重要な指標であることは周知の事実であるが、「ABO遺伝子は何のためにあるのか?」という問いは未だ解明されていない。本研究成果から、ABO遺伝子の下流に存在するOBP2B遺伝子はエンハンサーを共有しており、ABO遺伝子は、他の遺伝子発現を活性化するために存在する『利他的な遺伝子』と考えられる。また、ABO遺伝子とその類縁遺伝子はヒトにかぎらず、脊椎動物などに幅広く存在することから、生命に重要な何らかの機能にABO遺伝子座が関与していると考えられる。

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Published: 2021-02-19  

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