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Mouse polycomb targets in gonadal development

Research Project

Project/Area Number 15K06917
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Medical genome science
Research InstitutionNational Center for Child Health and Development

Principal Investigator

Katoh-Fukui Yuko  国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, (非)研究員 (50342639)

Co-Investigator(Kenkyū-buntansha) 高田 修治  国立研究開発法人国立成育医療研究センター, システム発生・再生医学研究部, 部長 (20382856)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
KeywordsPolycomb / Mouse / Sex determination / Gonadal development / クロマチン / 性分化 / 疾患 / マウス / 性分化疾患
Outline of Final Research Achievements

In the course of embryonic development, he polycomb group (PcG) proteins are major chromatin components that are involved in the regulation of target genes. Mice lacking the function of the PcG protein Cbx2 show defects in gonadal, adrenal, and splenic development. In particular, XY Cbx2 KO mice develop ovaries but not testes, and the gonads are hypoplastic in both sexes. How Cbx2 regulates target genes in development of these tissues remains largely unknown. In this project, we tried to identify the target region of Cbx2 in embryonic gonad, and further delete the region by CRISPR-Cas9 genome editing in mice, to analyze the molecular mechanisms of Cbx2 in developing gonad.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (14 results)

All 2018 2017 2016 2015

All Journal Article (6 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 6 results,  Open Access: 5 results,  Acknowledgement Compliant: 2 results) Presentation (8 results) (of which Int'l Joint Research: 4 results)

  • [Journal Article] An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome2018

    • Author(s)
      Katoh-Fukui Yuko、Yatsuga Shuichi、Shima Hirohito、Hattori Atsushi、Nakamura Akie、Okamura Kohji、Yanagi Kumiko、Iso Manami、Kaname Tadashi、Matsubara Yoichi、Fukami Maki
    • Journal Title

      Human Genome Variation

      Volume: 5 Issue: 1 Pages: 18006-18006

    • DOI

      10.1038/hgv.2018.6

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature2017

    • Author(s)
      Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi K, Matsubara Y, Narumi S, Tanaka T and Fukami M on behalf of the Japanese SHOX study group
    • Journal Title

      Endocrine Journal

      Volume: 64 Issue: 10 Pages: 947-954

    • DOI

      10.1507/endocrj.EJ17-0150

    • NAID

      130006186080

    • ISSN
      0918-8959, 1348-4540
    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel C-terminal truncating NR5A1 mutation in dizygotic twins.2017

    • Author(s)
      Hattori A, Zukeran H, Igarashi M, Toguchi S, Toubaru Y, Inoue T, Katoh-Fukui Y, Fukami M.
    • Journal Title

      Hum Genome Var.

      Volume: 印刷中 Issue: 1 Pages: 17008-17008

    • DOI

      10.1038/hgv.2017.8

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice2016

    • Author(s)
      Miyado M, Inui M, Igarashi M, Katoh-Fukui Y, Takasawa K, Hakoda A, Kanno J, Kashimada K, Miyado K, Tamano M, Ogata T, Takada S, Fukami M
    • Journal Title

      Biol Sex Differ

      Volume: 7 Issue: 1 Pages: 56-56

    • DOI

      10.1186/s13293-016-0114-6

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Lack of Skeletal Dysplasia in Patients with Missense Mutations and Upstream Deletion of SOX9.2015

    • Author(s)
      Katoh-Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, and Fukami M
    • Journal Title

      Molecular Genetics & Genomic Medicine

      Volume: 3 Issue: 6 Pages: 550-557

    • DOI

      10.1002/mgg3.165

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Molecular basis of non-syndromic hypospadias: Systematic mutation screening and genome-wide copy-number analysis of 62 patients.2015

    • Author(s)
      Kon M, Suzu ki E, Dung VC, Hasegawa Y, Mitsui T, Muroya K, Ueoka K, Igarashi N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato-Fukui Y, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura K, Fukami M
    • Journal Title

      Hum Reprod

      Volume: 30(3) Issue: 3 Pages: 499-506

    • DOI

      10.1093/humrep/deu364

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Presentation] Exploring The Genetic Etiology of Disorders of Sex Development (DSD)-CBX2 Variation in DSD Patients-2017

    • Author(s)
      Katoh-Fukui Y, Igarashi M, Nakamura S, HattoriA, Fukami M
    • Organizer
      Asian Sex Differentiation Network (The 7th Gonad Biology Joint Meeting, 2017) October 16-18, 2017, Nagoya University, Nagoya, Aichi, Japan
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] A de novo CHD7 mutation at the exon/intron junction in a patient with CHARGE syndrome2017

    • Author(s)
      Katoh-Fukui Y, Yatsuga S, Shima H, Hattori A, Nakamura A, Okamura K, Yanagi K, Iso M, Kaname T, Matsubara Y and Fukami M
    • Organizer
      第40回日本分子生物学会年会(兵庫県神戸市),2017年12月6日
    • Related Report
      2017 Annual Research Report
  • [Presentation] 間葉系細胞系列におけるマウスポリコームCbx2の機能解析2016

    • Author(s)
      福井由宇子、進導美幸、夏目里恵、崎村建司、津村秀樹、深見真紀
    • Organizer
      第39回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜
    • Related Report
      2016 Research-status Report
  • [Presentation] Sequence variations in genes of the GH-IGF-1 axis in children with idiopathic short stature2016

    • Author(s)
      Hattori A, Katoh-Fukui Y, Igarashi1 M, Ayabe T, Suzuki E, Nakamura A, Tanaka H, Nagasaki K, Muroya K, Horikawa R, Ida S, Tanaka T, Kamimaki T, Ogata T and Fukami M
    • Organizer
      The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society(APPES)
    • Place of Presentation
      東京国際フォーラムTokyo, Japan
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] Mouse Polycomb Cbx2 Functions in Skeletal Lineage2016

    • Author(s)
      Katoh-Fukui Y, Baba T, Otake H, Sato T, Suyama M, Ohkawa Y, Morohashi K, Tsumura H and Fukami M
    • Organizer
      The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society(APPES)
    • Place of Presentation
      東京国際フォーラムTokyo, Japan
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] マウスポリコームCbx2/M33ノックアウトマウスにおける頭蓋冠形成異常2015

    • Author(s)
      福井由宇子・津村秀樹・深見真紀
    • Organizer
      第38回日本分子生物学会年会
    • Place of Presentation
      兵庫県神戸市
    • Year and Date
      2015-12-03
    • Related Report
      2015 Research-status Report
  • [Presentation] Vanishing Testis SyndromeにおけるDSD関連遺伝子の網羅的変異解析2015

    • Author(s)
      福井由宇子・五十嵐麻希・長崎啓祐・位田忍・堀川玲子・鈴木江莉奈・宮戸真美・中村明枝・緒方勤・深見真紀
    • Organizer
      第49回日本小児内分泌学会学術集会
    • Place of Presentation
      東京都江戸川区
    • Year and Date
      2015-10-08
    • Related Report
      2015 Research-status Report
  • [Presentation] Mouse Polycomb Cbx2 Plays Essential Roles in Postnatal Bone Formation2015

    • Author(s)
      Y. Katoh-Fukui, T. Baba, H. Otake, T. Sato, M. Suyama, Y. Ohkawa, K. Morohashi, H. Tsumura and M. Fukami
    • Organizer
      Mouse Molecular Genetics 2015
    • Place of Presentation
      Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    • Year and Date
      2015-09-18
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research

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Published: 2015-04-16   Modified: 2019-03-29  

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