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Molecular origin of chromosomal abnormalities in early embryonic cells

Research Project

Project/Area Number 17K11259
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Obstetrics and gynecology
Research InstitutionFujita Health University

Principal Investigator

Kato Takema  藤田医科大学, 総合医科学研究所, 助教 (20387690)

Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2019: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
KeywordsPGT / 染色体異常 / モザイク / 着床前診断 / 受精卵 / PGT-A / PGT-SR / NGS / 胚盤胞 / Blastocyst / Inner Cell Mass / Trophectoderm / Chromosome / PGD / PGS / ICM / TE / 初期胚
Outline of Final Research Achievements

In this study, we performed chromosome copy number analysis of arrested embryos and blastocysts to examine the details of chromosomal abnormalities that occur during fertilization and how the chromosomal abnormalities affect the mitotic cell division during early embryonic stage. Chromosome analysis of arrested embryos revealed that almost all of them had chromosomal abnormalities and also had mosaic chromosomal abnormalities in multiple chromosomes. Chromosome comparative analysis between ICMs, which form the fetus, and TEs, which form the placenta, showed that karyotypes differed in about half of the embryos. The cause of the discrepancy between ICMs and TEs was found to be a mosaic chromosomal abnormalities that occurred post-fertilization embryos and tended to accumulate in TEs. Furthermore, the karyotype concordance rate among TEs was only about 59.1%. These results indicate that the chromosomal karyotype of TEs in PGT cannot is unlikely to reflect the ICM or the embryo.

Academic Significance and Societal Importance of the Research Achievements

本研究による成果として、受精卵の個々の細胞を解析したことから、初期胚における染色体異常を持つ細胞が、胚盤胞期にICMやTEにどのように分化し、アポトーシスを受け核型不一致を起こすかヒントになり得る結果を得た。さらに上記の基礎研究の成果のみならず、TE生検によって得られた細胞を鋳型にして、PGT-AやPGT-SRのように染色体解析した場合、どのような染色体異常を持つとICMとTE間で不一致になりやすいかなど診断精度の指標を作成することができた。本研究の成果は、基礎研究のみならず臨床としても有意義のある成果と考えている。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (39 results)

All 2020 2019 2018 2017

All Journal Article (20 results) (of which Peer Reviewed: 20 results,  Open Access: 10 results) Presentation (18 results) (of which Int'l Joint Research: 3 results,  Invited: 8 results) Book (1 results)

  • [Journal Article] A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia.2020

    • Author(s)
      Kawamura R, Kato T, Miyai S, Suzuki F, Naru Y, Kato M, Tanaka K, Nagasaka M, Tsutsumi M, Inagaki H, Ioroi T, Yoshida M, Nao T, Conlin LK, Iijima K, Kurahashi H, Taniguchi-Ikeda M.
    • Journal Title

      J Hum Genet.

      Volume: - Issue: 8 Pages: 705-709

    • DOI

      10.1038/s10038-020-0748-4

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases.2020

    • Author(s)
      Kato T, Kawai M, Miyai S, Suzuki F, Tsutsumi M, Mizuno S, Ikeda T, Kurahashi H.
    • Journal Title

      Cytogenet Genome Res.

      Volume: - Issue: 3 Pages: 118-123

    • DOI

      10.1159/000507177

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation2020

    • Author(s)
      Kato Maki、Yagami Akiko、Tsukamoto Tetsuya、Shinkai Yasuko、Kato Takema、Kurahashi Hiroki
    • Journal Title

      The Journal of Dermatology

      Volume: - Issue: 6 Pages: 669-672

    • DOI

      10.1111/1346-8138.15313

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.2019

    • Author(s)
      Sato T, Sugiura-Ogasawara M, Ozawa F, Yamamoto T, Kato T, Kurahashi H, Kuroda T, Aoyama N, Kato K, Kobayashi R, Fukuda A, Utsunomiya T, Kuwahara A, Saito H, Takeshita T, Irahara M.
    • Journal Title

      Hum Reprod.

      Volume: 34 Issue: 12 Pages: 2340-2348

    • DOI

      10.1093/humrep/dez229

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report2019

    • Author(s)
      Tsutsumi Makiko、Hattori Hiroyoshi、Akita Nobuhiro、Maeda Naoko、Kubota Toshinobu、Horibe Keizo、Fujita Naoko、Kawai Miki、Shinkai Yasuko、Kato Maki、Kato Takema、Kawamura Rie、Suzuki Fumihiko、Kurahashi Hiroki
    • Journal Title

      BMC Medical Genomics

      Volume: 12 Issue: 1 Pages: 1-8

    • DOI

      10.1186/s12920-019-0640-2

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome.2019

    • Author(s)
      Toshimitsu M, Nagaoka S, Kobori S, Ogawa M, Suzuki F, Kato T, Miyai S, Kawamura R, Inagaki H, Kurahashi H, Murotsuki J.
    • Journal Title

      Case Rep Obstet Gynecol.

      Volume: - Pages: 1-5

    • DOI

      10.1155/2019/6753184

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Prostate stem cell antigen gene polymorphism is associated with H. pylori-related promoter DNA methylation in non-neoplastic gastric epithelium2019

    • Author(s)
      Tahara Tomomitsu、Tahara Sayumi、Horiguchi Noriyuki、Kato Takema、Shinkai Yasuko、Okubo Masaaki、Terada Tsuyoshi、Yoshida Dai、Funasaka Kohei、Nagasaka Mitsuo、Nakagawa Yoshihito、Kurahashi Hiroki、Shibata Tomoyuki、Tsukamoto Tetsuya、Ohmiya Naoki
    • Journal Title

      Cancer Prevention Research

      Volume: - Issue: 9 Pages: 579-584

    • DOI

      10.1158/1940-6207.capr-19-0035

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures.2019

    • Author(s)
      Inagaki H, Ota S, Nishizawa H, Miyamura H, Nakahira K, Suzuki M, Nishiyama S, Kato T, Yanagihara I, Kurahashi H.
    • Journal Title

      J Hum Genet.

      Volume: 64 Issue: 5 Pages: 459-466

    • DOI

      10.1038/s10038-019-0578-4

    • Related Report
      2019 Annual Research Report 2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis.2019

    • Author(s)
      Tsuchiya H, Akiyama T, Kuhara T, Nakajima Y, Ohse M, Kurahashi H, Kato T, Maeda Y, Yoshinaga H, Kobayashi K.
    • Journal Title

      Brain Dev.

      Volume: 41 Issue: 3 Pages: 280-284

    • DOI

      10.1016/j.braindev.2018.10.005

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] DNA methylation accumulation in gastric mucosa adjacent to cancer after Helicobacter pylori eradication.2019

    • Author(s)
      Tahara S, Tahara T, Horiguchi N, Kato T, Shinkai Y, Yamashita H, Yamada H, Kawamura T, Terada T, Okubo M, Nagasaka M, Nakagawa Y, Shibata T, Yamada S, Urano M, Tsukamoto T, Kurahashi H, Kuroda M, Ohmiya N.
    • Journal Title

      Int J Cancer.

      Volume: 144 Issue: 1 Pages: 80-88

    • DOI

      10.1002/ijc.31667

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency.2018

    • Author(s)
      Boda H, Miyata M, Inagaki H, Shinkai Y, Kato T, Yoshikawa T, Kurahashi H.
    • Journal Title

      Eur J Med Genet.

      Volume: S1769-7212 Issue: 11 Pages: 30408-7

    • DOI

      10.1016/j.ejmg.2018.11.004

    • Related Report
      2019 Annual Research Report 2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome.2018

    • Author(s)
      Kibe M, Ibara S, Inagaki H, Kato T, Kurahashi H, Ikeda T.
    • Journal Title

      Am J Med Genet A.

      Volume: 176 Issue: 5 Pages: 1245-1248

    • DOI

      10.1002/ajmg.a.38681

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome.2018

    • Author(s)
      Yamaguchi T, Yamaguchi M, Akeno K, Fujisaki M, Sumiyoshi K, Ohashi M, Sameshima H, Ozaki M, Kato M, Kato T, Hosoba E, Kurahashi H.
    • Journal Title

      J Obstet Gynaecol Res.

      Volume: 44 Issue: 7 Pages: 1313-1317

    • DOI

      10.1111/jog.13647

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Potential role for nectin-4 in the pathogenesis of pre-eclampsia: a molecular genetic study.2018

    • Author(s)
      Ito M, Nishizawa H, Tsutsumi M, Kato A, Sakabe Y, Noda Y, Ohwaki A, Miyazaki J, Kato T, Shiogama K, Sekiya T, Kurahashi H, Fujii T.
    • Journal Title

      BMC Med Genet.

      Volume: 19 Issue: 1 Pages: 166-166

    • DOI

      10.1186/s12881-018-0681-y

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders2018

    • Author(s)
      Terasawa Sumire、Kato Asuka、Nishizawa Haruki、Kato Takema、Yoshizawa Hikari、Noda Yoshiteru、Miyazaki Jun、Ito Mayuko、Sekiya Takao、Fujii Takuma、Kurahashi Hiroki
    • Journal Title

      Congenital Anomalies

      Volume: - Issue: 1 Pages: 1-7

    • DOI

      10.1111/cga.12278

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Twin pregnancy with chromosomal abnormalities mimicking a gestational trophoblastic disorder and coexistent foetus on ultrasound2018

    • Author(s)
      Ohwaki Akiko、Nishizawa Haruki、Aida Noriko、Kato Takema、Kambayashi Asuka、Miyazaki Jun、Ito Mayuko、Urano Makoto、Kiriyama Yuka、Kuroda Makoto、Nakayama Masahiro、Sonta Shin-Ichi、Suzumori Kaoru、Sekiya Takao、Kurahashi Hiroki、Fujii Takuma
    • Journal Title

      Journal of Obstetrics and Gynaecology

      Volume: - Issue: 7 Pages: 1-3

    • DOI

      10.1080/01443615.2017.1401598

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] A Japanese case of β-ureidopropionase deficiency with dysmorphic features2017

    • Author(s)
      Akiyama, T., Shibata, T., Yoshinaga, H., Kuhara, T., Nakajima, Y., Kato, T., Maeda, Y., Ohse, M., Oka, M., Kageyama, M., Kobayashi, K.
    • Journal Title

      Brain and Development

      Volume: 39 Issue: 1 Pages: 58-61

    • DOI

      10.1016/j.braindev.2016.08.001

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene2017

    • Author(s)
      Kato Maki、Kato Takema、Hosoba Eriko、Ohashi Masanao、Fujisaki Midori、Ozaki Mamoru、Yamaguchi Masatoshi、Sameshima Hiroshi、Kurahashi Hiroki
    • Journal Title

      Human Genome Variation

      Volume: 4 Issue: 1 Pages: 17021-17021

    • DOI

      10.1038/hgv.2017.21

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Remote intracranial recurrence of <i>IDH</i> mutant gliomas is associated with <i>TP53</i> mutations and an 8q gain2017

    • Author(s)
      Nakae Shunsuke、Kato Takema、Murayama Kazuhiro、Sasaki Hikaru、Abe Masato、Kumon Masanobu、Kumai Tadashi、Yamashiro Kei、Inamasu Joji、Hasegawa Mitsuhiro、Kurahashi Hiroki、Hirose Yuichi
    • Journal Title

      Oncotarget

      Volume: 8 Issue: 49 Pages: 84729-84742

    • DOI

      10.18632/oncotarget.20951

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis2017

    • Author(s)
      Kato Takema、Ouchi Yuya、Inagaki Hidehito、Makita Yoshio、Mizuno Seiji、Kajita Mitsuharu、Ikeda Toshiro、Takeuchi Kazuhiro、Kurahashi Hiroki
    • Journal Title

      Cytogenetic and Genome Research

      Volume: 153 Issue: 1 Pages: 1-9

    • DOI

      10.1159/000481586

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] PGT解析技術の現状と問題点2019

    • Author(s)
      加藤武馬
    • Organizer
      第26回セント・ルカセミナー
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] PGT解析手法の現状2019

    • Author(s)
      加藤武馬
    • Organizer
      第21回 東北ART研究会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] How does DNA break for formation of three-way translocations?2019

    • Author(s)
      Takema Kato
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 着床前・出生前のゲノム解析2019

    • Author(s)
      加藤武馬
    • Organizer
      第5回日本産科婦人科遺伝診療学会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 染色体構造異常の解析2019

    • Author(s)
      加藤武馬、倉橋浩樹
    • Organizer
      小児遺伝学会
    • Related Report
      2018 Research-status Report
    • Invited
  • [Presentation] Optimization of PGD for recurrent t(11;22) carrier2018

    • Author(s)
      Takema Kato, Maki Kato, Yasuko Shinkai, Haruki Nishizawa, Toshiaki Endo, Chikako Kani, Masanori Ochi, Shin Hayashi, Johji Inazawa, Hiroki Kurahashi
    • Organizer
      PGDIS
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] 網羅的手法によるPGDの現状と問題点2018

    • Author(s)
      加藤武馬
    • Organizer
      JISART
    • Related Report
      2018 Research-status Report
    • Invited
  • [Presentation] Mosaicism for two abnormal cell lines, one with trisomy 5 and one with trisomy 82018

    • Author(s)
      加藤武馬
    • Organizer
      Chubu Cytoegenetics Conference
    • Related Report
      2018 Research-status Report
    • Invited
  • [Presentation] 次世代シーケンサーを用いた着床前診断染色体解析の解析精度と限界2018

    • Author(s)
      加藤武馬、加藤麻希、宮井俊輔、遠藤俊明、中岡義晴、福田愛作、澤井英明、田中温、宇津宮隆史、竹内一浩、倉橋浩樹
    • Organizer
      受精着床学会
    • Related Report
      2018 Research-status Report
  • [Presentation] 染色体構造異常の発生機構2018

    • Author(s)
      加藤武馬、稲垣秀人、新海保子、堤真紀子、山本俊至、水野誠司、倉橋浩樹
    • Organizer
      先天異常学会
    • Related Report
      2018 Research-status Report
    • Invited
  • [Presentation] 均衡型染色体構造異常保因者にInter-chromosomal effectは見られるか2018

    • Author(s)
      加藤武馬、遠藤俊明、中岡義晴、福田愛作、澤井英明、田中温、宇津宮隆史、竹内一浩、倉橋浩樹
    • Organizer
      生殖医学会
    • Related Report
      2018 Research-status Report
  • [Presentation] Fetoplacental chromosomal structural abnormalities are originated from repeated breakage-fusion-bridge cycles.2018

    • Author(s)
      Takema Kato, Syunsuke Miyai, Fumihiko Suzuki, Yuki Naru, Maki Kato, Hidehito Inagaki, Mitsuhisa Shinya, Toshiro Ikeda, Hiroki Kurahashi
    • Organizer
      人類遺伝学会
    • Related Report
      2018 Research-status Report
  • [Presentation] How does DNA break for formation of three-way translocations?2018

    • Author(s)
      Takema Kato, Hidehito Inagaki, Yasuko Shinkai, Asuka Kato, Rie Kawamura, Makiko Tsutsumi, Mariko Taniguchi-Ikeda, Seiji Mizuno, Yoshio Makita, Nakamichi Saito, Nobuhiko Ochi, Hiroki Kurahashi
    • Organizer
      The American Society of Human Genetics
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] 染色体挿入の発生機序2018

    • Author(s)
      加藤武馬、稲垣秀人、藤田尚子、新海保子、蒔田芳男、水野誠司、梶田光晴、池田敏郎、竹内一浩、柘植郁哉、倉橋浩樹
    • Organizer
      小児遺伝学会
    • Related Report
      2017 Research-status Report
  • [Presentation] Comprehensive chromosomal analysis of blastomeres with developmental arrest2017

    • Author(s)
      Takema Kato, Sachie Nishiyama, Yukio Nishyama, Kaori Yoshikai, Yukino Matsuda, Tomio Sawada, Hikari Yoshizawa, Hiroshi Furukawa, Haruki Nishizawa, Maki Kato, Asuka Kanbayashi, Hiroki Kurahashi
    • Organizer
      International Conference on Prenatal Diagnosis and Therapy
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] 全ゲノムシーケンスとゲノム再構成について2017

    • Author(s)
      加藤武馬
    • Organizer
      染色体研究会
    • Related Report
      2017 Research-status Report
    • Invited
  • [Presentation] Chromosomal abnormalities in ICM and TE of human blastocysts2017

    • Author(s)
      Takema kato, Maki Kato, Kaori Yoshikai, Yukino Matsuda, Chitose Arai, Naomi Asai, Eiko nakano, Tomio Sawada, Hiroki Kurahashi
    • Organizer
      日本人類遺伝学会
    • Related Report
      2017 Research-status Report
  • [Presentation] Mate Pair Sequencing for Chromosomal Rearrangements2017

    • Author(s)
      Takema Kato, Hidehito Inagaki, Yasuko Shinkai, Makiko Tsutsumi, Naoko Fujita, Toshiyuki Yamamoto, Hiroki Kurahashi
    • Organizer
      分子生物学会
    • Related Report
      2017 Research-status Report
  • [Book] これでわかる 網羅的手法による着床前診断のすべて2019

    • Author(s)
      倉橋 浩樹
    • Total Pages
      144
    • Publisher
      診断と治療社
    • ISBN
      9784787823816
    • Related Report
      2019 Annual Research Report

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Published: 2017-04-28   Modified: 2021-02-19  

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