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idetification of the genes causing male infertility and habitual abortion by next generation sequencing in human

Research Project

Project/Area Number 16K11077
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Obstetrics and gynecology
Research InstitutionAsahikawa Medical College

Principal Investigator

MIYAMOTO TOSHINOBU  旭川医科大学, 医学部, 講師 (70360998)

Co-Investigator(Kenkyū-buntansha) 千石 一雄  旭川医科大学, 医学部, 教授 (30163124)
Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2018: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywordsazoospermia / male infertility / habitual abortion / gene / male ifertility / MA / SCOS / Meiotic Arrest / mutation / Male infertility / 無精子症 / 原因遺伝子
Outline of Final Research Achievements

In this study, identification of the causative genes of male infertility and habitual abortion, which are important causative agents that account for about half of infertility, and genetic elucidation of the pathophysiology of their pathogenesis, in male infertility We aimed to establish a less invasive and accurate diagnostic method and contribute to the improvement of the world of reproductive medicine. To date, exome analysis by next-generation sequencing was performed using DNA from human azoospermia patients, and 12 candidate gene groups responsible for azoospermia due to SCOS and MA were already identified from all human gene groups. All those knockout mice were generated and are currently under functional analysis.

Academic Significance and Societal Importance of the Research Achievements

ヒト男性不妊症の原因遺伝子は多岐にわたるとされているものの、今日まで世界的に原因遺伝子として同定されたのはわずかにおよそ10遺伝子である。
今日までヒト無精子症患者からのDNAを用いて次世代シークエンス法によるエクソーム解析を行い、ヒトの全遺伝子群からすでにSCOS及びMAによる無精子症の原因候補遺伝子群を12個同定できたた。それらすべてのノックアウトマウスを作製し、現在機能解析中である。よって本研究は世界のトップレベルを走っていると自負する。

Report

(4 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Research-status Report
  • 2016 Research-status Report
  • Research Products

    (34 results)

All 2019 2018 2017 2016

All Journal Article (19 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 17 results,  Open Access: 6 results,  Acknowledgement Compliant: 7 results) Presentation (13 results) (of which Invited: 2 results) Book (1 results) Patent(Industrial Property Rights) (1 results)

  • [Journal Article] The poly(A) polymerase beta gene may not be associated with azoospermia caused by Sertoli-cell-only syndrome in Japanese patients by comparing patients and normal controls.2019

    • Author(s)
      Miyamoto T, Shin T, Iijima M, Minase G, Okada H, Saijo Y, Sengoku K.
    • Journal Title

      J Obstet Gynaecol.

      Volume: 39 Pages: 434-436

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association Between Maternal Serum Folate Concentrations in the First Trimester and the Risk of Birth Defects: The Hokkaido Study of Environment and Children's Health.2019

    • Author(s)
      Ito K, Hanaoka T, Tamura N, Sasaki S, Miyashita C, Araki A, Ito S, Minakami H, Cho K, Endo T, Baba T, Miyamoto T, Sengoku K, Tamakoshi A, Kishi R.
    • Journal Title

      J Epidemiol.

      Volume: 29 Pages: 164-171

    • NAID

      130007624300

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 【内分泌症候群(第3版)-その他の内分泌疾患を含めて-】 女性性機能 その他 乳汁漏出症2019

    • Author(s)
      千石 一雄, 宮本 敏伸, 水無瀬 学, 水無瀬 萌
    • Journal Title

      日本臨床 (0047-1852)別冊内分泌症候群III

      Volume: III Pages: 262-266

    • Related Report
      2018 Annual Research Report
  • [Journal Article] An association study of the single-nucleotide polymorphism c190C>T (Arg64Cys) in the human testis-specific histone variant, H3t, of Japanese patients with Sertoli cell-only syndrome.2018

    • Author(s)
      Miyamoto T, Iijima M, Shin T, Minase G, Ueda H, Saijo Y, Okada H, Sengoku K.
    • Journal Title

      Asian J Androl.

      Volume: 20 Pages: 527-528

    • Related Report
      2018 Annual Research Report 2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Prevalence and Risk of Birth Defects Observed in a Prospective Cohort Study: The Hokkaido Study on Environment and Children's Health.2018

    • Author(s)
      Hanaoka T, Tamura N, Ito K, Sasaki S, Araki A, Ikeno T, Miyashita C, Ito S, Minakami H, Cho K, Endo T, Baba T, Miyamoto T, Sengoku K, Kishi R
    • Journal Title

      J Epidemiol

      Volume: 28 Pages: 125-132

    • NAID

      130006434072

    • Related Report
      2018 Annual Research Report 2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] CUL4B mutations are uncommon in Japanese patients with Sertoli-cell-only syndrome and azoospermia.2018

    • Author(s)
      Miyamoto T, Iijima M, Shin T, Minase G, Ueda H, Okada H, Sengoku K.
    • Journal Title

      J Obstet Gynaecol

      Volume: 38 Pages: 293-294

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 【不妊・不育症医療の最前線】 不妊の診断・治療(女性)2018

    • Author(s)
      千石 一雄, 宮本 敏伸, 水無瀬 萌
    • Journal Title

      臨床検査

      Volume: 62 Pages: 626-632

    • Related Report
      2018 Annual Research Report
  • [Journal Article] CUL4B mutations are uncommon in Japanese patients with Sertoli-cell-only syndrome and azoospermia.2018

    • Author(s)
      Miyamoto T, Iijima M, Shin T, Minase G, Ueda H, Okada H, Sengoku K.
    • Journal Title

      J Obstet Gynaecol.

      Volume: 38 Issue: 2 Pages: 293-294

    • DOI

      10.1080/01443615.2017.1336755

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Human male infertility and its genetic causes.2017

    • Author(s)
      Miyamoto T, Minase G, Shin T, Ueda H, Okada H, Sengoku K.
    • Journal Title

      Reprod Med Biol.

      Volume: 16 Issue: 2 Pages: 81-88

    • DOI

      10.1002/rmb2.12017

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.2017

    • Author(s)
      Minase G, Miyatake S, Nabatame S, Arai H, Koshimizu E, Mizuguchi T, Nakashima M, Miyake N, Saitsu H, Miyamoto T, Sengoku K, Matsumoto N.
    • Journal Title

      J Hum Genet.

      Volume: 62 Issue: 11 Pages: 997-1000

    • DOI

      10.1038/jhg.2017.77

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Single-nucleotide polymorphism in the human RAD21L gene may be a genetic risk factor for japanese patients with azoospermia cause by meiotic arrest and Sertoli cell-only syndrome2017

    • Author(s)
      Minase G, Miyamoto T, Miyagawa Y, Iijima M, Ueda H, Saijo Y, Namiki M, Sengoku K
    • Journal Title

      Human Fertility

      Volume: - Issue: 3 Pages: 217-220

    • DOI

      10.1080/14647273.2017.1292004

    • NAID

      120006510212

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Naturally conceived heterotopic pregnancy treated with abdominal wall-lifting laparoscopic salpingectomy using spinal anaesthesia.2017

    • Author(s)
      Nakanishi K, Miyamoto T, Murakami K, Ono M, Nozawa A, Sengoku K, Kitamura S.
    • Journal Title

      J Obstet Gynaecol

      Volume: 37 Issue: 8 Pages: 1104-1105

    • DOI

      10.1080/01443615.2017.1322047

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Prenatal diagnosis of a body stalk anomaly by a combination of ultrasonography and foetal magnetic resonance imaging.2017

    • Author(s)
      Ueda H, Miyamoto T, Minase G, Sengoku K.
    • Journal Title

      J Obstet Gynaecol.

      Volume: 37 Issue: 7 Pages: 946-947

    • DOI

      10.1080/01443615.2017.1306842

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Naturally Conceived Heterotopic Pregnancy Treated with Abdominal Wall-lifting Laparoscopic Salpingectomy Using Spinal Anaesthesia2017

    • Author(s)
      Nakanishi K, Miyamoto T, Murakami K, Ono M, Nozawa A, Sengoku K, Kitamura S
    • Journal Title

      Journal of Obstetrics and Gynecology

      Volume: in press

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Prenatal diagnosis of a body stalk anomaly by a combination of ultrasonography and foetal magnetic resonance imaging2017

    • Author(s)
      Ueda H, Miyamoto T, Minase G, Sengoku K
    • Journal Title

      Journal of Obstetrics and Gynecology

      Volume: in press

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Human Male Infertility and its Genetic Causes2017

    • Author(s)
      Miyamoto T, Minase G, Shin T, Ueda H, Okada H, Sengoku K
    • Journal Title

      Reprod Med Biol

      Volume: in press

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Rectal perforation after incision of the vaginal canal following incorrect insertion of a Vagi-Pipe into the rectum during total laparoscopic hysterectomy2016

    • Author(s)
      Okamoto S, Nakanishi K, Ono M, Nozawa A, Kitarura S, Miyamoto T, Sengoku K
    • Journal Title

      Journal of Obstetrics and Gynecology

      Volume: 36 Pages: 992-993

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] The Association between Prenatal Yoga and the Administration of Ritodrine Hydrochloride during Pregnancy: An Adjunct Study of the Japan Environment and Children's Study.2016

    • Author(s)
      Kawanishi Y, Saijo Y, Yoshioka E, Nakagi Y, Yoshida T, Miyamoto T, Sengoku K, Ito Y, Miyashita C, Araki A, Kishi R.
    • Journal Title

      PLoS One.

      Volume: 11

    • NAID

      120005907002

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome.2016

    • Author(s)
      Miyamoto T, Bando Y, Koh E, Tsujimura A, Miyagawa Y, Iijima M, Namiki M, Shiina M, Ogata K, Matsumoto N, Sengoku K.
    • Journal Title

      Andrology

      Volume: 4 Pages: 75-81

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Presentation] マタニティヨガ実践と切迫早産,早産との関連に関する検討(エコチル調査北海道追加調査)(2018

    • Author(s)
      川西 康之, 岸 玲子, 吉岡 英治, 西條 泰明, 吉田 貴彦, 宮本 敏伸, 千石 一雄, 伊藤 善也, 伊藤 佐智子, 宮下 ちひろ, 荒木 敦子
    • Organizer
      日本産科婦人科学会
    • Related Report
      2018 Annual Research Report
  • [Presentation] 減数分裂停止及びSertoli cell-only syndromeに起因する日本人無精子症患者におけるヒトRAD21L1遺伝子の解析に関する検討2018

    • Author(s)
      水無瀬 学, 上田 寛人, 宮本 敏伸, 千石 一雄
    • Organizer
      日本産科婦人科学会
    • Related Report
      2018 Annual Research Report
  • [Presentation] 気胸の管理が必要となった希少部位子宮内膜症の2症例2018

    • Author(s)
      水無瀬 学, 加藤 育民, 水無瀬 萌, 宮本 敏伸, 水崎 恵, 高橋 知昭, 千石 一雄
    • Organizer
      日本女性医学学会
    • Related Report
      2018 Annual Research Report
  • [Presentation] GALNTL5遺伝子の変異は日本人Sertoli Cell Only Syndromeの原因遺伝子の可能性がある2018

    • Author(s)
      水無瀬 学, 宮本 敏伸, 岡田 弘, 慎 武, 飯島 将司, 千石 一雄
    • Organizer
      日本生殖医学会
    • Related Report
      2018 Annual Research Report
  • [Presentation] 日本人Sertoli Cell Only Syndrome患者におけるGALNTL5変異との関連について2018

    • Author(s)
      水無瀬 学, 宮本 敏伸, 千石 一雄
    • Organizer
      北日本産科婦人科学会
    • Related Report
      2018 Annual Research Report
  • [Presentation] 腹腔鏡とMRIで診断し得た重複子宮・腟中隔の1症例2018

    • Author(s)
      水無瀬 萌, 宮本 敏伸, 林 なつき, 西脇 邦彦, 千石 一雄
    • Organizer
      日本生殖医学会
    • Related Report
      2018 Annual Research Report
  • [Presentation] ヒトCUL4B遺伝子の変異は日本人Sertoli Cell only Syndromeにおいては稀である2017

    • Author(s)
      宮本 敏伸, 安孫子 公香, 千石 一雄
    • Organizer
      日本生殖医学会
    • Related Report
      2017 Research-status Report
  • [Presentation] 日本人SCOS患者におけるヒトETV5遺伝子の検討2017

    • Author(s)
      宮本 敏伸, 上田 寛人, 水無瀬 学, 安孫子 公香, 千石 一雄
    • Organizer
      北海道生殖医学会
    • Related Report
      2017 Research-status Report
  • [Presentation] 当院における腹腔鏡下子宮筋腫核出術の後方視的検討 術後妊娠例を中心に2017

    • Author(s)
      水無瀬 萌, 竹内 肇, 寳田 健平, 市川 英俊, 北 香, 高橋 知昭, 加藤 育民, 片山 英人, 西脇 邦彦, 宮本 敏伸, 千石 一雄
    • Organizer
      日本産科婦人科学会
    • Related Report
      2017 Research-status Report
  • [Presentation] 日本人セルトリセルオンリーシンドローム患者におけるヒトETV5遺伝子の一塩基多型解析に関する研究2017

    • Author(s)
      上田 寛人, 水無瀬 学, 宮本 敏伸, 千石 一雄
    • Organizer
      日本産婦人科学会
    • Related Report
      2017 Research-status Report
  • [Presentation] 日本人SCOS患者におけるヒトETV5遺伝子の検討2017

    • Author(s)
      宮本敏伸
    • Organizer
      北海道生殖医学会総会
    • Place of Presentation
      札幌市
    • Related Report
      2016 Research-status Report
  • [Presentation] 男性不妊症と遺伝学的素因2016

    • Author(s)
      宮本敏伸
    • Organizer
      第47回精子研究会
    • Place of Presentation
      秋田市
    • Related Report
      2016 Research-status Report
    • Invited
  • [Presentation] 男性不妊症原因遺伝子群2016

    • Author(s)
      宮本敏伸
    • Organizer
      日本アンドロロジー学会学術総会
    • Place of Presentation
      前橋
    • Related Report
      2016 Research-status Report
    • Invited
  • [Book] 生殖補助医療(ART)-胚培養の理論と実際2017

    • Author(s)
      宮本敏伸
    • Total Pages
      5
    • Publisher
      近代出版
    • Related Report
      2016 Research-status Report
  • [Patent(Industrial Property Rights)] でリケ-トエリアのかぶれ判定方法2016

    • Inventor(s)
      千石一雄、宮本敏伸 他
    • Industrial Property Rights Holder
      旭川医科大学
    • Industrial Property Rights Type
      特許
    • Filing Date
      2016-11-29
    • Related Report
      2016 Research-status Report

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Published: 2016-04-21   Modified: 2020-03-30  

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