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Epigenetic analysis in patients with pubertal disorders.

Research Project

Project/Area Number 18K16249
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 54040:Metabolism and endocrinology-related
Research InstitutionNational Center for Child Health and Development

Principal Investigator

Suzuki Erina  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 (60726785)

Project Period (FY) 2018-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywordsエピジェネティック / エピジェネティクス / MKRN3遺伝子
Outline of Final Research Achievements

We performed epigenetic analysis in patients with pubertal disorders, including central precocious puberty (CPP). CPP is a rare multifactorial disorder and can occur as a result of monogenic mutations. The association between epigenetic defects of MKRN3 and CPP has yet to be determined. We performed genetic and epigenetic analyses of MKRN3 in 24 Asian patients with CPP. We identified an MKRN3 gene mutation in one of 24 patients and epigenetic defects in no patient. The mutation-positive patient exhibited CPP from 5 years of age. This study revealed the frequency and phenotypic consequences of MKRN3 abnormalities.

Academic Significance and Societal Importance of the Research Achievements

これまで、アジア諸国CPP患者でのMKRN3遺伝子変異報告は少数であった。また、MKRN3遺伝子のエピジェネティック異常は同定されていない。本研究では、アジア諸国CPP患者におけるMKRN3遺伝子の異常の関与の程度と変異陽性患者の臨床像を明らかにした。本研究の成果は、性成熟疾患の分子基盤の理解につながると期待される。

Report

(3 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • Research Products

    (6 results)

All 2020 2019 2018

All Journal Article (3 results) (of which Peer Reviewed: 3 results,  Open Access: 3 results) Presentation (3 results)

  • [Journal Article] Random X chromosome inactivation in patients with Klinefelter syndrome.2020

    • Author(s)
      Kinjo K, Yoshida T, Kobori Y, Okada H, Suzuki E, Ogata T, Miyado M and Fukami M.
    • Journal Title

      Mol Cell Pediatr.

      Volume: 7 Issue: 1 Pages: 1-1

    • DOI

      10.1186/s40348-020-0093-x

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.2019

    • Author(s)
      Ogushi K, Muroya K, Shima H, Jinno T, Miyado M and Fukami M.
    • Journal Title

      Cytogenetic and Genome Research

      Volume: 158 Issue: 2 Pages: 56-62

    • DOI

      10.1159/000500468

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.2019

    • Author(s)
      Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S, Fukami M
    • Journal Title

      Human Genome Variation

      Volume: - Issue: 1 Pages: 7-7

    • DOI

      10.1038/s41439-019-0039-9

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] アジアの中枢性思春期早発症患者においてMKRN3遺伝子変異・異常は稀である2020

    • Author(s)
      鈴木 江莉奈, 宮戸 真美, 田中 敏章, 八ツ賀 秀一, 西岡 淳子, 緒方 勤, 堀川 玲子, 深見 真紀
    • Organizer
      第24回日本生殖内分泌学会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 中枢性思春期早発を招くMKRN3異常の主体は、 de novo変異の発生ではなく、父由来変異の伝達である2019

    • Author(s)
      鈴木 江莉奈, 島 彦仁, 鏡 雅代, 曽根田 瞬, 田中 敏章, 八ツ賀 秀一, 西岡 淳子, 大戸 佑二, 神谷 敏也, 内木 康博,緒方 勤, 藤澤 泰子, 中村 明枝, 川嶋 明香, 森川 俊太郎, 堀川 玲子, 佐野 伸一郎, 深見 真紀
    • Organizer
      第53回日本小児内分泌学会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 偽性副甲状腺機能低下症を招くGNAS遺伝子内構造多様性のゲノム基盤の解明2018

    • Author(s)
      鈴木 江莉奈、坊 亮輔、須恵 香里、粟野 宏之、緒方 勤、鳴海 覚志、 鏡 雅代、佐野 伸一郎、深見 真紀
    • Organizer
      第41回日本分子生物学会
    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2021-02-19  

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