Analysis of human azoospermia and POF and its clinical advance

• Project/Area Number: 25462547
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Obstetrics and gynecology
• Research Institution: Asahikawa Medical College
• Principal Investigator: MIYAMOTO TOSHINOBU 旭川医科大学, 医学部, 講師 (70360998)
• Co-Investigator(Kenkyū-buntansha): SENGOKU Kazuo 旭川医科大学, 医学部, 教授 (30163124)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000); Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2013: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
• Keywords: azoospermia / SCOS / meiosis / mutation / SNP / MA / PLK4

Outline of Final Research Achievements

PLK-4 is a key regulator of centriole duplication and male mice with a point mutation in Plk4 are known to show azoospermia associated with germ cell loss. We found a heterozygous 13-bp deletion of PLK4 in an azoospermic patient with Sertoli cell-only syndrome (SCOS). In vitro centriole amplification was observed in wild-type PLK4-transfected cells, but not in mutant ones, indicating that the PLK4 mutation can cause azoospermia by SCOS.

Research Products

• [Journal Article] A PLK4 mutation causing azoospermia in a man with Sertoli cell only syndrome (2016)
  • Author(s): Miyamoto T, Bando Y, Tsujimura A, Miyagawa Y, Iijima M, Namiki M, Shina M ,Ogata K, Matsumoto N, Sengoku K
  • Journal Title: Andrology Volume: 4 Issue: 1 Pages: 24-81
  • DOI: 10.1111/andr.12113
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Male infertility and its genetic causes (2015)
  • Author(s): Miyamoto T, Minase G, Okabe K, Ueda H, Sengoku K
  • Journal Title: J Obstet Gynaecol Res Volume: 41 Issue: 10 Pages: 15001-15005
  • DOI: 10.1111/jog.12765
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] SIN3A mutations are rare in men with azoospermia (2015)
  • Author(s): Miyamoto T, Koh E, Tsujimura A, Miyagawa Y, Minase G, Ueda Y,Namiki M,Sengoku K
  • Journal Title: Andrologia Volume: 47 Issue: 9 Pages: 1083-1085
  • DOI: 10.1111/and.12379
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Prenatal diagnosis of congenital imperforate hymen with hydrocolpos. (2015)
  • Author(s): Nakajima E, Ishigouoka T, Yoshida T, Sato T, Miyamoto T, Shirai M, Sengoku K.
  • Journal Title: J Obstet Gynaecol. Volume: 35 Issue: 3 Pages: 311-313
  • DOI: 10.3109/01443615.2014.951608
• [Journal Article] Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. (2014)
  • Author(s): Miyamoto T, Koh E, Tsujimura A, Miyagawa Y, Saijo Y, Namiki M, Sengoku K
  • Journal Title: Andrologia Volume: 46 Pages: 273-276
• [Journal Article] Ten years of progress in the Hokkaido birth cohort study on environment and children's health: cohort profile--updated 2013. (2013)
  • Author(s): Kishi R, , Goudarzi H, Azumi K, Kanazawa A, Otake Y, Yila TA, Ait Bamai Y, Cong S, Baba T, Braimoh TS, Ban S, Washino N, Konishi K, Kato S, Uno A, Limpar M, Minakami H, Nonomura K, Mitsui T, Endo T, Baba T, Sengoku K, Saijo Y, Yoshioka E, Miyamoto T et al
  • Journal Title: Environ Health Prev Med. Volume: 18 Pages: 429-50
  • Peer Reviewed
• [Journal Article] Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing. (2013)
  • Author(s): Kondo Y, Saitsu H,Miyamoto T, Lee BJ, Nishiyama K, Nakashima M, Tsurusaki Y, Doi H, Miyake N, Kim JH, Yu YS, Matsumoto N
  • Journal Title: Mol Vis. Volume: 19 Pages: 384-389
  • Peer Reviewed
• [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
  • Place of Presentation: 前橋市
  • Year and Date: 2016-06-23
  • Invited
• [Presentation] 男性不妊症と遺伝学的素因 (2016)
  • Author(s): 宮本敏伸
  • Organizer: 精子研究会
  • Place of Presentation: 秋田市
  • Year and Date: 2016-06-03
  • Invited
• [Presentation] ヒトSCOSにおけるヒトPLK4遺伝子の解析 (2014)
  • Author(s): 宮本敏伸、千石一雄
  • Organizer: 北海道生殖医学会学術講演会
  • Place of Presentation: 札幌市
• [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: 日本産婦人科学会学術講演会
  • Place of Presentation: 札幌市
• [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: 日本生殖医学会学術講演会
  • Place of Presentation: 神戸市
• [Book] VII培養室業務の実際：精液調整法、生殖補助医療(ART)-胚培養の理論と実際 (2016)
  • Author(s): 宮本敏伸
  • Total Pages: 5
  • Publisher: 日本卵子学会