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Combined action of environmental and genetical factors on mail genital abnormalities

Research Project

Project/Area Number 25860905
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Embryonic/Neonatal medicine
Research InstitutionHamamatsu University School of Medicine

Principal Investigator

Ohishi Akira  浜松医科大学, 医学部, 助教 (80402337)

Co-Investigator(Renkei-kenkyūsha) FUJISAWA Yasuko  浜松医科大学, 医学部, 講師 (40402284)
OGATA Tsutomu  浜松医科大学, 医学部, 教授 (40169173)
Research Collaborator FUKAMI Maki  国立成育医療研究センター
SONE Hideko  独立行政法人国立環境研究所
YOSHINAGA Jun  東京大学, 新領域創成科学研究科
Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Keywords性分化 / 環境ホルモン / ステロイド / エストロゲン / 感受性遺伝子 / 環境化学物質 / 内分泌撹乱ホルモン / 精巣異形成症候群 / 女性化 / 性分化異常 / DOHaD
Outline of Final Research Achievements

We gained the two new insights by this grant. First, we performed steroid profiling of umbilical cord blood from normal now borns by LC-MS/MS-based method. Given that there are still some unclear points of androgen generation during fetal period, those results are quite important for research on gonadal sex differentiation. Second, we analyzed the frequency of a 2244 base pair deletion within intron 6 of the ESR1 gene that is the significant gene modification involving increased sensitivity to estrogenic endocrine disruptors. We identified that this deletion has recessive effect on male genital abnormalities. Furthermore, the number of subjects involving with this deletion was higher in normal adult male group than in normal boy group, indicating that the sensitive subjects to estrogenic endocrine disruptors tended to to be born with normal genitals during past decades when the level of endocrine disruptors was low.

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (4 results)

All 2015 2014

All Journal Article (1 results) (of which Peer Reviewed: 1 results,  Open Access: 1 results,  Acknowledgement Compliant: 1 results) Presentation (3 results)

  • [Journal Article] Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.2014

    • Author(s)
      Nakashima S, Oishi A, Takada F, Kawamura H, Igarashi M, Fukami M, Ogata T
    • Journal Title

      J Hum Genet

      Volume: 59(10) Issue: 10 Pages: 549-553

    • DOI

      10.1038/jhg.2014.70

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Presentation] 新生児期に気づかれ早期に遺伝子診断に至った頭蓋骨縫合早期癒合症の3例2015

    • Author(s)
      大石彰
    • Organizer
      日本新生児成育医学会学術集会
    • Place of Presentation
      盛岡
    • Year and Date
      2015-10-23
    • Related Report
      2015 Annual Research Report
  • [Presentation] 頭蓋骨縫合早期癒合症日本人症例における遺伝子解析2015

    • Author(s)
      大石彰
    • Organizer
      第38回小児遺伝学会学術大会
    • Place of Presentation
      横浜
    • Year and Date
      2015-07-25
    • Related Report
      2015 Annual Research Report
  • [Presentation] Campomelic dysplasiaの長期管理では頸椎に注目することが重要である2015

    • Author(s)
      大石彰
    • Organizer
      第51回日本周産期・新生児医学会学術集会
    • Place of Presentation
      福岡
    • Year and Date
      2015-07-10
    • Related Report
      2015 Annual Research Report

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Published: 2014-07-25   Modified: 2019-07-29  

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