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加齢依存性第1減数分裂不分離と変異型SYCP3

Publicly Offered Research

Project AreaThe germline: its developmental cycle and epigenome network
Project/Area Number 21028020
Research Category

Grant-in-Aid for Scientific Research on Priority Areas

Allocation TypeSingle-year Grants
Review Section Biological Sciences
Research InstitutionFujita Health University

Principal Investigator

倉橋 浩樹  藤田保健衛生大学, 総合医科学研究所, 教授 (30243215)

Project Period (FY) 2009 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥6,400,000 (Direct Cost: ¥6,400,000)
Fiscal Year 2010: ¥3,200,000 (Direct Cost: ¥3,200,000)
Fiscal Year 2009: ¥3,200,000 (Direct Cost: ¥3,200,000)
Keywordsダウン症候群 / 異数体 / 異数性 / 流産 / 習慣流産 / 不妊症 / 不育症 / SYCP3
Research Abstract

21番染色体のトリソミーは出生児のダウン症候群の原因となるが、他の染色体の数的異常症(異数性)の多くは重篤であり、妊娠早期に流産という転帰をとる。多くの異数性の過剰染色体は、(1)母親由来、(2)第1減数分裂由来、(3)母親の加齢に依存して頻度が増加する、という3つの特徴を有する。卵子形成の第1減数分裂は胎生期から思春期以降の排卵までの間、第1減数分裂前期で長期間停止するため、この期間に染色体の分離になんらかの影響が生じると考えられる。わたしたちは、異数性による流産を繰り返していると思われる習慣流産の患者で、第1減数分裂時の相同染色体の対合に関与するシナプトネマ複合体の蛋白をコードするSYCP3遺伝子の変異を同定した。この変異のひとつはスプライシング部位の変異により第8イントロンの残存をきたし、C末端の変異型SYCP蛋白を産生する。この第8イントロンの残存した転写物は、正常ヒト精巣でもわずかにみられる。健常人でもこのC末端の変異蛋白が産生され、その加齢による蓄積によって、習慣流産患者と同等の病態をきたすという仮説が成り立つ。前年度は、正常マウス性腺でも同じイントロンの残存した転写物が見られることを証明したが、蛋白レベルでは変異蛋白は検出できなかった。本年度は、国外の業者から購入したヒト卵巣サンプルでも同じく第8イントロンの残存した転写物が見られることをRT-PCRにて示した。そこで、ヒトのイントロン残存型蛋白に対するC末端のペプチド抗体を作成し、蛋白レベルでの検出を試みたが、検出できなかった。

Report

(2 results)
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (34 results)

All 2011 2010 2009 Other

All Journal Article (25 results) (of which Peer Reviewed: 25 results) Presentation (8 results) Remarks (1 results)

  • [Journal Article] Polymorphism in annexin A5 gene promoter in Japanese women with recurrent pregnancy loss.2011

    • Author(s)
      Miyamura H, Nishizawa H, Ota S, Suzuki M, Inagaki A, Egusa H, Nishiyama S, Kato T, Pryor-Koishi K, Nakanishi I, Fujita T, Imayoshi Y, Markoff A, Yanagihara I, Udagawa Y, Kurahashi H.
    • Journal Title

      Mol Hum Reprod

      Volume: (In press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A rare synaptonemal complex protein 3 gene variant is associated with unexplained female infertility.2011

    • Author(s)
      Nishiyama S, Kishi T, Kato T, Suzuki M, Bolor H, Udagawa Y, Kurahashi H.
    • Journal Title

      Mol Hum Reprod

      Volume: (In press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Global gene expression profiling in early-stage polycystic kidney disease in the Han : SPRD Cy rat identifies a role for RXR signaling.2011

    • Author(s)
      Kugita M, Nishii K, Morita M, Yoshihara D, Kowa-Sugiyama H, Yamada K, Yamaguchi T, Wallace DP, Calvet JP, Kurahashi H, Nagao S.
    • Journal Title

      Am J Physiol Renal Physiol

      Volume: (In press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] PPAR-{gamma} agonist ameliorates kidney and liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease.2011

    • Author(s)
      Yoshihara D, Kurahashi H, Morita M, Kugita M, Hiki Y, Aukema HM, Yamaguchi T, Calvet JP, Wallace DP, Nagao S.
    • Journal Title

      Am J Physiol Renal Physiol

      Volume: (In press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Paternal origin of the de novo constitutional t(11;22)(q23;q11).2010

    • Author(s)
      Ohye T, Inagaki H, Kogo H, Tsutsumi M, Kato T, Tong M, Macville M, Medne L, Zackai EH, Emanuel BS, Kurahashi H.
    • Journal Title

      Eur J Hum Genet

      Volume: 18 Pages: 783-7

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.2010

    • Author(s)
      Tong M, Kato T, Yamada K, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Wang J, Emanuel BS, Kurahashi H.
    • Journal Title

      Hum Mol Genet

      Volume: 19 Pages: 2630-7

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A new palindrome-mediated recurrent translocation with 3:1 meiotic non-disjunction : the t(8;22)(q24.13;q11.21).2010

    • Author(s)
      Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gimelli S, Gemmill RM, Drabkin HA, Hacker AM, Brown J, Tomkins D, Shaikh TH, Kurahashi H, Zackai EH, Emanuel BS.
    • Journal Title

      Am J Hum Genet

      Volume: 87 Pages: 209-18

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The constitutional t(11;22) : implications for a novel mechanism responsible for gross chromosomal rearrangement.2010

    • Author(s)
      Kurahashi H, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Kato T, Tong M, Emanuel BS.
    • Journal Title

      Clin Genet

      Volume: 78 Pages: 299-309

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Screening of genes involved in chromosome segregation during meiosis I : towards the identification of genes responsible for infertility in humans.2010

    • Author(s)
      Kogo H, Kowa-Sugiyama H, Yamada K, Bolor H, Tsutsumi M, Ohye T, Inagaki H, Taniguchi M, Toda T, Kurahashi H.
    • Journal Title

      J Hum Genet

      Volume: 55 Pages: 293-9

    • NAID

      10030734983

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] CD9 gene variations are not associated with female infertility in humans.2010

    • Author(s)
      Nishiyama S, Kishi T, Kato T, Suzuki M, Nishizawa H, Pryor-Koishi K, Sawada T, Nishiyama Y, Iwata N, Udagawa Y, Kurahashi H.
    • Journal Title

      Gynecol Obstet Invest

      Volume: 69 Pages: 116-21

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genetic variation in the indoleamine 2,3-dioxygenase gene in pre-eclampsia.2010

    • Author(s)
      Nishizawa H, Kato T, Ohta S, Nishiyama S, Pryor-Koishi K, Suzuki M, Tsutsumi M, Inagaki H, Kurahashi H, Udagawa Y.
    • Journal Title

      Am J Reprod Immunol

      Volume: 64 Pages: 68-76

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genetic variation in the indoleamine 2,3-dioxygenase gene in pre-eclampsia (Reply).2010

    • Author(s)
      Nishizawa H, Kurahashi H.
    • Journal Title

      Am J Reprod Immunol

      Volume: 64 Pages: 317-317

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Polycystic kidney disease in Han : SPRD Cy rats is associated with elevated expression and mislocalization of SamCystin.2010

    • Author(s)
      Nagao S, Morita M, Kugita M, Yoshihara D, Yamaguchi T, Kurahashi H, Calvet JP, Wallace DP.
    • Journal Title

      Am J Physiol Renal Physiol

      Volume: 299

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Urinary neutrophil gelatinase-associated lipocalin is a potential non-invasive marker for renal scarring in patients with vesicoureteral reflux.2010

    • Author(s)
      Ichino M, Kusaka M, Kuroyanagi Y, Mori T, Morooka M, Sasaki H, Shiroki R, Shishido S, Kurahashi H, Hoshinaga K.
    • Journal Title

      J Urol

      Volume: 183 Pages: 2001-7

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Serum tissue inhibitor of metalloproteinases 1 (TIMP-1) predicts organ recovery from delayed graft function after kidney transplantation from donors after cardiac death.2010

    • Author(s)
      Kusaka M, Kuroyanagi Y, Ichino M, Sasaki H, Maruyama T, Hayakawa K, Shiroki R, Sugitani A, Kurahashi H, Hoshinaga K.
    • Journal Title

      Cell Transplant

      Volume: 19 Pages: 723-9

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Correlation of axillary osmidrosis to a SNP in the ABCC11 gene determined by the smart-amplification process (SMAP).2010

    • Author(s)
      Inoue Y, Mori T, Sakurai A, Mitani Y, Toyoda Y, Ishikawa T, Hayashizaki Y, Yoshimura Y, Kurahashi H, Sakai Y.
    • Journal Title

      J Plast Reconstr Aesthet Surg

      Volume: 63 Pages: 1369-74

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Angiotensin converting enzyme 2 gene expression increased compensatory for left ventricular remodeling in patients with end-stage heart failure.2010

    • Author(s)
      Ohtsuki M, Morimoto S, Izawa H, Ismail TF, Ishibashi-Ueda H, Kato Y, Horii T, Isomura T, Suma H, Nomura M, Hishida H, Kurahashi H, Ozaki Y.
    • Journal Title

      Int J Cardiol

      Volume: 145 Pages: 333-4

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] CD9 gene variations are not associated with female infertility in humans2010

    • Author(s)
      Nishiyama S, Kishi T, Kato T, Suzuki M, Nishizawa H, Pryor-Koishi K, Sawada T, Nishiyama Y, Iwata N, Udagawa Y, Kurahashi H
    • Journal Title

      Gynecologic and Obstetric Investigation 69

      Pages: 116-121

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations of the SYCP3 gene in women with recurrent pregnancy loss2009

    • Author(s)
      Bolor H, Mori T, Nishiyama S, Ito Y, Hosoba E, Inagaki H, Kogo H, Ohye T, Makiko T, Kato T, Tong M, Nishizawa H, Pryor-Koishi K, Kitaoka E, Sawada T, Nishiyama Y, Udagawa Y-, Kurahashi H
    • Journal Title

      American Journal of Human Genetics 84

      Pages: 14-20

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Chromosomal instability mediated by non-B DNA : Cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans2009

    • Author(s)
      Inagaki H, Ohye T, Kogo H, Kato T, Bolor H, Taniguchi M, Shaikh TH, Emanuel BS, Kurahashi H
    • Journal Title

      Genome Research 19

      Pages: 191-198

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells2009

    • Author(s)
      Kurahashi H, Inagaki H, Kato T, Hosoba E, Kogo H, Ohye T, Tsutsumi M, Bolor H, Tong M, Emanuel BS
    • Journal Title

      Human Molecular Genetics 18

      Pages: 3397-3406

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Recent advance in our understanding of the molecular nature of chromosomal abnormalities2009

    • Author(s)
      Kurahashi H, Bolor H, Kato T, Kogo H, Tsutsumi M, Inagaki H, Ohye T
    • Journal Title

      Journal of Human Genetics 54

      Pages: 253-260

    • NAID

      10030730167

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Analysis of nitric oxide metabolism as a placental or maternal factor underlying the etiology of pre-eclampsia2009

    • Author(s)
      Nishizawa H, Pryor-Koishi K, Suzuki M, Kato T, Sekiya T, Tada S, Kurahashi H, Udagawa Y
    • Journal Title

      Gynecologic and Obstetric Investigation 68

      Pages: 239-247

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Increased urinary neutrophil gelatinase-associated lipocalin levels in a rat model of upper urinary tract infection2009

    • Author(s)
      Ichino M, Kuroyanagi Y, Kusaka M, Mori T, Ishikawa K, Shiroki R, Kurahashi H, Hoshinaga K
    • Journal Title

      Journal of Urology 181

      Pages: 2326-2331

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Global expression profiles in 1-hour biopsy specimens of human kidney transplantation from donors after cardiac death2009

    • Author(s)
      Kusaka M, Kuroyanagi Y, Mori T, Nagaoka K, Sasaki H, Maruyama T, Hayakawa K, Shiroki R, Kurahashi H, Hoshinaga K
    • Journal Title

      Cell Transplantation 18

      Pages: 647-656

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] Palindrome-mediated chromosomal translocation in humans.2010

    • Author(s)
      Kurahashi H.
    • Organizer
      FASEB Summer Research Conferences. Biological Impact of Alternatively Structured DNA.
    • Place of Presentation
      Steamboat Springs, Colorado, USA(招待講演)
    • Related Report
      2010 Annual Research Report
  • [Presentation] Mutation of the SYCP3 gene in women with recurrent pregnancy loss2010

    • Author(s)
      Kurahashi H, Tsutsumi M, Egusa H, Nishiyama S, Suzuki M, Kogo H, Inagaki H, Ohye T.
    • Organizer
      International Symposium on Epigenome Network, Development and Reprogramming of Germ Cells.
    • Place of Presentation
      Fukuoka, Japan
    • Related Report
      2010 Annual Research Report
  • [Presentation] Paternal origin of the de novo constitutional t(11;22)(q23;q11).2010

    • Author(s)
      Ohye T, Inagaki H, Kogo H, Tsutsumi M, Kato T, Tong M, Macville MVE, Medne L, Zackai EH, Emanuel BS, Kurahashi H.
    • Organizer
      European Society of Human Genetics Conference 2010.
    • Place of Presentation
      Gothenburg, Sweden
    • Related Report
      2010 Annual Research Report
  • [Presentation] GEN1 resolves cruciform-forming palindromic DNA leading to a recurrent translocation in humans.2010

    • Author(s)
      Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS, Kurahashi H.
    • Organizer
      The 7th 3R Symposium
    • Place of Presentation
      Toyama, Japan
    • Related Report
      2010 Annual Research Report
  • [Presentation] GEN1 resolves cruciform-forming palindromic DNA leading to a recurrent translocation in humans.2010

    • Author(s)
      Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS, Kurahashi H.
    • Organizer
      The American Society of Human Genetics 60th Annual Meeting
    • Place of Presentation
      Washington DC, USA
    • Related Report
      2010 Annual Research Report
  • [Presentation] GEN1 resolves cruciform-forming palindromic DNA leading to a recurrent translocation in humans.2010

    • Author(s)
      Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS, Kurahashi H.
    • Organizer
      Keystone Symposia : Functional Consequences of Structural Variation in the Crenome
    • Place of Presentation
      Steamboat Springs, Colorado, USA
    • Related Report
      2010 Annual Research Report
  • [Presentation] Mutations of the SYCP3 gene in women with recurrent pregnancy loss2009

    • Author(s)
      Kurahashi H, Bolor H, Mori T, Nishiyama S, Inagaki H, Kogo H, Tsutsumi M, Ohye T
    • Organizer
      European Society of Human Genetics conference 2009
    • Place of Presentation
      Vienna, Austria
    • Related Report
      2009 Annual Research Report
  • [Presentation] Parental origin of de novo t(11;22)(q23;q11)2009

    • Author(s)
      Kurahashi H, Inagaki H, Kato T, Ohye T, Kogo H, Shaikh TH, Emanuel BS
    • Organizer
      59th annual meeting of American Society of Human Genetics
    • Place of Presentation
      Honolulu, Hawai, USA
    • Related Report
      2009 Annual Research Report
  • [Remarks]

    • URL

      http://www.fujita-hu.ac.jp/~genome/mg/

    • Related Report
      2009 Annual Research Report

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Published: 2009-04-01   Modified: 2018-03-28  

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