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Investigation of the mechanisms of spermatogenesis using a comprehensive analysis of genes related to human azoospermia

Research Project

Project/Area Number 23592388
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

SENGOKU Kazuo  旭川医科大学, 医学部, 教授 (30163124)

Co-Investigator(Kenkyū-buntansha) MIYAMOTO Toshinobu  旭川医科大学, 医学部, 講師 (70360998)
Project Period (FY) 2011 – 2013
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2012: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2011: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Keywords無精子症 / 遺伝子 / 減数分裂異常 / セルトリ細胞 / セルトリ細胞症候群 / 男性不妊 / 精子形成
Research Abstract

We investigated whether the human UBR2, SEPTIN12 and HORMAD1 genes are associated with azoospermia by meiotic arrest using mutational analysis in Japanese patients with azoospermia. We found the genotypic and allelic frequencies of c.1,066A>T variant in UBR2, and the c.204G>C (Gln38His) variant in SEPTIN12 were associated with azoospermia. We also detected three polymorphism sites, SNP1, SNP2 and SNP3 were found in exons 3, 8 and 10 in HORMAD1. Both SNP1 and SNP2 were associated with human azoospermia with meiotic arrest. In addition, mutational analysis of LRWD1 was conducted, and three SNPs were identified in the patients with SCOS. The frequency of the SNP1,2 alleles of LRWD1 were significantly elevated in the SCOS group. Moreover, the genotype and allele frequencies in SNP3, SNP4, and SNP6 of SEPTIN12 were notably higher in the SCOS group than in the control. These results suggest that UBR2, SEPTIN12, HORMAD1and LRWD1 might play critical roles in human spermatogenesis.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report
  • Research Products

    (17 results)

All 2014 2013 2012 2011

All Journal Article (12 results) (of which Peer Reviewed: 4 results) Presentation (5 results) (of which Invited: 1 results)

  • [Journal Article] Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome2014

    • Author(s)
      Miyamoto T, Koh E, Tsujimura A, Miyagawa Y, Saijo Y, Namiki M, Sengoku K
    • Journal Title

      Andorologia

      Volume: 48(3) Pages: 273-276

    • Related Report
      2013 Final Research Report
  • [Journal Article] Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome2014

    • Author(s)
      Miyamoto T, Koh E, Tsujimura A, Miyagawa Y, Saijo Y,Namiki M, Sengoku K
    • Journal Title

      Andrologia

      Volume: 48 Pages: 273-276

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Study of the vulvar skin in healthy Jananese women : components of the stratum corneum and microbes2013

    • Author(s)
      Miyamoto T, Akiba S, Sato N, Fujimura T, TakagiY, Kitahara T, Takema Y, Iizuka H, Sengoku K
    • Journal Title

      Int J Dermatol

      Volume: 53(12) Pages: 1500-1505

    • Related Report
      2013 Final Research Report
  • [Journal Article] Clinicopathologic risk factors for recurrence of ovarian endometrioma following laparoscopic cystectomy2013

    • Author(s)
      Sengoku K, Mitamoto T, Horikawa,M, Katayama H, Nishiwaki K, Kato Y, Kawanishi Y, saijo T
    • Journal Title

      Acta Obstet Gynecol Scand

      Volume: 92(3) Pages: 278-284

    • Related Report
      2013 Final Research Report
  • [Journal Article] Clinicopathologic risk factors for recurrence of ovarian endometrioma following laparoscopic cystectomy2013

    • Author(s)
      Sengoku K, Miyamoto T, Horikawa M, Katayama H, Nishiwaki K, Kato Y, Kawanishi Y, Saijo Y.
    • Journal Title

      Acta Obstet Gynecol Scand

      Volume: 92(3) Issue: 3 Pages: 278-84

    • DOI

      10.1111/aogs.12051

    • Related Report
      2013 Annual Research Report 2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Study of the vulnar skin in healthy Japanese wpmen Component of the stratum corneum and microbes2013

    • Author(s)
      Miyamoto T, Akiba S, Sato N, Fujimura T, Takagi Y, Kitahara T, Takema Y, Iizuka H, Sengoku K
    • Journal Title

      Int J Dermatol

      Volume: 52 Pages: 1500-1505

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Single-nucleotide polymorphisms in HORMAD1 gene may be a risk factor for azoospermia caused by meiotic arrest in Japanese patients2012

    • Author(s)
      Miyamoto T, Tsujimura A, Miyagawa Y, Koh E, Namiki M, Horikawa M, Saijo Y, Sengoku K
    • Journal Title

      Asian J Androl

      Volume: 14(4) Pages: 580-583

    • Related Report
      2013 Final Research Report
  • [Journal Article] Single-nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men2012

    • Author(s)
      Mitamoto T, Tsujimura A, Miyagawa Y, Koh E, Namiki M, Horikawa M, Saijo Y, Sengoku K
    • Journal Title

      J Assist Reprod Genet

      Volume: 29(1) Pages: 47-51

    • Related Report
      2013 Final Research Report
  • [Journal Article] Male infertility and its causes in human2012

    • Author(s)
      Miyamoto T, Tsujimura A, Miyagawa Y, Koh E, Namiki M, Sengoku K
    • Journal Title

      Adv Urol

    • Related Report
      2013 Final Research Report
  • [Journal Article] Sigle-nucleotide polymorphisms in the SEPTIN 12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome2012

    • Author(s)
      Miyakawa K, Miyamoto T, Koh E, Tsujimura A, Miyagawa Y, Saijo Y, Namiki M, Sengoku K
    • Journal Title

      J Androl

      Volume: 33(3) Pages: 483-487

    • Related Report
      2013 Final Research Report
  • [Journal Article] Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men2012

    • Author(s)
      Toshinobu Miyamoto & Akira Tsujimura & Yasushi Miyagawa & Eitetsu Koh & Mikio Namiki & Michiharu Horikawa & Yasuaki Saijo & Kazuo Sengoku
    • Journal Title

      J Assist Reprod Genet

      Volume: 29 Pages: 47-51

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Single nucleotide polymorphisms in the UBR2 gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest2011

    • Author(s)
      Miyamoto T, Tsujimura A, Miyagawa Y, Koh E, Namiki M, Horikawa M, Saijo Y, Sengoku K
    • Journal Title

      J Assist Reprod Genet

      Volume: 28(8) Pages: 743-746

    • Related Report
      2013 Final Research Report
  • [Presentation] ヒトSertoli cell-only syndrome (SCOS)におけるヒトLRWD1遺伝子の解析2013

    • Author(s)
      宮本敏伸、宮川博栄、千石一雄
    • Organizer
      日本産科婦人科学会
    • Related Report
      2013 Final Research Report
  • [Presentation] Sertoli-ceii-only syndromeによる無精子症患者群とヒトSEPTIN12遺伝子の多型解析2013

    • Author(s)
      宮川博栄、宮本敏伸、千石一雄
    • Organizer
      北日本産科婦人科学会
    • Related Report
      2013 Final Research Report
  • [Presentation] 男性不妊とその要因2013

    • Author(s)
      千石一雄
    • Organizer
      日本産婦人科医会学術講演会教育講演
    • Related Report
      2013 Final Research Report
  • [Presentation] ヒトSertoli cell-only syndrome (SCOS) におけるヒトLRWD1遺伝子の解析2013

    • Author(s)
      宮本敏伸、千石一雄
    • Organizer
      日本産科婦人科学会
    • Place of Presentation
      札幌
    • Related Report
      2013 Annual Research Report
  • [Presentation] 男性不妊とその要因2013

    • Author(s)
      千石一雄
    • Organizer
      日本産婦人科医会学術講演会
    • Place of Presentation
      仙台
    • Related Report
      2013 Annual Research Report
    • Invited

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Published: 2011-08-05   Modified: 2019-07-29  

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