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Complete elucidation of Transcriotional regulation of ABO gene

Research Project

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
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥17,160,000 (Direct Cost: ¥13,200,000、Indirect Cost: ¥3,960,000)
Fiscal Year 2019: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
Fiscal Year 2018: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
Fiscal Year 2017: ¥11,310,000 (Direct Cost: ¥8,700,000、Indirect Cost: ¥2,610,000)
KeywordsABO式血液型 / ABO遺伝子 / 遺伝学 / 転写調節 / ABO遺伝子
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.

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。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Annual Research Report
  • 2017 Annual Research Report
  • Research Products

    (20 results)

All 2020 2019 2018 2017

All Journal Article (8 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 8 results,  Open Access: 3 results) Presentation (12 results) (of which Int'l Joint Research: 5 results,  Invited: 1 results)

  • [Journal Article] Human ABO gene transcriptional regulation2020

    • Author(s)
      Kominato Yoshihiko、Sano Rie、Takahashi Yoichiro、Hayakawa Akira、Ogasawara Kenichi
    • Journal Title

      Transfusion

      Volume: 60 Issue: 4 Pages: 860-869

    • DOI

      10.1111/trf.15760

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] RUNX1 mutation in a patient with myelodysplastic syndrome and decreased erythrocyte expression of blood group A antigen2019

    • Author(s)
      Hayakawa Akira、Sano Rie、Takahashi Yoichiro、Kubo Rieko、Harada Megumi、Omata Masato、Yokohama Akihiko、Handa Hiroshi、Tsukada Junichi、Takeshita Haruo、Tsuneyama Hatsue、Ogasawara Kenichi、 Kominato Yoshihiko
    • Journal Title

      Transfusion

      Volume: 60 Issue: 1 Pages: 184-196

    • DOI

      10.1111/trf.15628

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Fucosylated α1-acid glycoprotein as a biomarker to predict prognosis following tumor immunotherapy of patients with lung cancer2019

    • Author(s)
      Yokobori Takehiko、Yazawa Shin、Asao Takayuki、Nakazawa Nobuhiro、Mogi Akira、Sano Rie、Kuwano Hiroyuki、Kaira Kyoichi、Shirabe Ken
    • Journal Title

      Scientific Reports

      Volume: 9 Issue: 1 Pages: 14503-14503

    • DOI

      10.1038/s41598-019-51021-2

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Use of postmortem computed tomography to retrieve small metal fragments derived from a weapon in the bodies of victims in two homicide cases2018

    • Author(s)
      Sano Rie、Takahashi Yoichiro、Hayakawa Akira、Murayama Masayuki、Kubo Rieko、Hirasawa Satoshi、Tokue Hiroyuki、Shimada Takehiro、Awata Sachiko、Takei Hiroyuki、Yuasa Masahiro、Uetake Shinji、Akuzawa Hisashi、Kominato Yoshihiko
    • Journal Title

      Legal Medicine

      Volume: 32 Pages: 87-89

    • DOI

      10.1016/j.legalmed.2018.03.006

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Tattoo image composed of radiopaque deposits demonstrated by postmortem computed tomography.2018

    • Author(s)
      Hayakawa A, Sano R, Takei H, Takahashi Y, Kubo R, Tokue H, Hirasawa S, Shimada T, Awata S, Yuasa M, Uetake S, Akuzawa H, Kominato Y
    • Journal Title

      Leg Med.

      Volume: 35 Pages: 9-11

    • DOI

      10.1016/j.legalmed.2018.09.002

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Postmortem computed tomography evaluation of fatal gas embolism due to connection of an intravenous cannula to an oxygen supply.2017

    • Author(s)
      Takahashi Y, Sano R, Yasuda A, Kuboya E, Takahashi K, Kubo R, Kominato Y, Takei H, Kobayashi S, Shimada T, Awata S, Tokue H, Hirasawa S
    • Journal Title

      Leg Med

      Volume: 27 Pages: 1-4

    • DOI

      10.1016/j.legalmed.2017.11.005

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Histone deacetylase inhibitor suppresses the expression of ABO in vitro, leading to reduced amount of ABO antigens on the surface of the epithelial cell2017

    • Author(s)
      Takahashi Y, Kubo R, Sano R, Nakajima T, Takahashi K, Kobayashi M, Kominato Y
    • Journal Title

      Transfusion

      Volume: 印刷中 Issue: 3 Pages: 554-562

    • DOI

      10.1111/trf.13958

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Sequence analysis of ABO and its homologues is valid for species identification.2017

    • Author(s)
      Sano R, Fukuda H, Takahashi Y, Takahashi K, Kubo R, Kobayashi M, Fujihara J, Takeshita H, Kominato Y.
    • Journal Title

      Transfus Med

      Volume: 27 Issue: 6 Pages: 428-436

    • DOI

      10.1111/tme.12455

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Presentation] RUNX1 mutation in a patient with MDS and decreased erythrocyte expression of blood group A antigen2019

    • Author(s)
      Sano R, Akira Hayakawa, Yoichiro Takahashi, Yoshihiko Kominato
    • Organizer
      日本血液学会学術集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] ABO式血液型判定でみられるmixed field agglutinationは血液型亜型か?それとも骨髄悪性疾患か?2019

    • Author(s)
      佐野 利恵、早川 輝、高橋 遥一郎、福田治紀、窪 理英子、小湊 慶彦
    • Organizer
      人類遺伝学会
    • Related Report
      2019 Annual Research Report
  • [Presentation] ABO遺伝子の転写調節研究と血液型亜型の遺伝子解析2019

    • Author(s)
      佐野利恵
    • Organizer
      日本医学会総会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] Interleukin 8-251 A>T polymorphism(rs4073) in Japanese subpopulations and its correlation with smoking rates.2018

    • Author(s)
      Kaori Kimura-Kataoka, Misuzu Ueki, Toshihiro Yasuda, Reiko Iida, Junko Fujihara, Kazuo Yamada, Rie Sano, Yoshihiko Kominato, Haruo Takeshita.
    • Organizer
      24th Congress of the International Academy of Legal Medicine(IALM).
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Reduction of CTCF binding to the ABO promoter by nucleotide substitutions found in individuals with phenotypes A3 and B3.2018

    • Author(s)
      Rie Sano, Rieko Kubo, Yoichiro Takahashi, Haruo Takeshita, Yoshihiko Kominato.
    • Organizer
      24th Congress of the International Academy of Legal Medicine(IALM).
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Usefulness of coronary postmortem computed tomography angiography to detect lesions in the coronary artery and myocardium in cases of sudden death..2018

    • Author(s)
      Rie Sano, Yoichiro Takahashi, Kaori Kimura-Kataoka, Haruo Takeshita, Yoshihiko Kominato.
    • Organizer
      24th Congress of the International Academy of Legal Medicine(IALM).
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] A3, B3型におけるABO遺伝子プロモーターの一塩基置換はCTCFの結合を減弱させる.2018

    • Author(s)
      佐野利恵, 高橋遥一郎, 伊佐和美, 常山初江, 小笠原健一, 横濱章彦, 小湊慶彦
    • Organizer
      第66回日本輸血・細胞治療学会総会.
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] A3, B3型におけるABO遺伝子プロモーターの一塩基置換はCTCFの結合を減弱させる.2018

    • Author(s)
      佐野利恵, 高橋遥一郎, 窪理英子, 早川輝, 藤原純子, 竹下治男, 小湊慶彦.
    • Organizer
      日本DNA多型学会第27回学術集会
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] . ABO遺伝子下流に存在する上皮細胞特異的エンハンサーの同定.2017

    • Author(s)
      佐野利恵, 中島たみ子, 高橋遥一郎, 窪理英子, 高橋圭子, 竹下治男, 小湊慶彦
    • Organizer
      第101次日本法医学会学術全国集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] ABO式血液型遺伝子とそのパラログ, オーソログの遺伝子解析による種判別法.2017

    • Author(s)
      佐野利恵, 福田治紀, 高橋遥一郎, 窪理英子, 高橋圭子, 藤原純子, 竹下治男, 小湊慶彦.
    • Organizer
      第101次日本法医学会学術全国集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] ABO遺伝子下流に存在する上皮細胞特異的エンハンサーの同定.2017

    • Author(s)
      佐野利恵, 中島たみ子, 高橋遥一郎, 小笠原健一, 小湊慶彦.
    • Organizer
      第65回日本輸血・細胞治療学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] ABO遺伝子下流に存在する上皮細胞特異的エンハンサーの同定.2017

    • Author(s)
      佐野利恵, 高橋遥一郎, 窪理英子, 高橋圭子, 竹下治男, 小湊慶彦.
    • Organizer
      日本DNA多型学会第26回学術集会.
    • Related Report
      2017 Annual Research Report

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Published: 2017-04-28   Modified: 2021-02-19  

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