Analysis of interchromosomal effect in human using yeast model

2011 Fiscal Year Final Research Report

• Project/Area Number: 21590346
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pathological medical chemistry
• Research Institution: Fujita Health University
• Principal Investigator: OHYE Tamae 藤田保健衛生大学, 総合医科学研究所, 助教 (10247661)
• Co-Investigator(Kenkyū-buntansha): KURAHASHI Hiroki 藤田保健衛生大学, 総合医科学研究所, 助教 (30243215)
• Project Period (FY): 2009 – 2011
• Keywords: 染色体転座 / 不分離 / 酵母モデル

Research Abstract

The production of a high proportion of gametes with an unbalanced genetic complement is strictly related to translocations and causes an increased risk of spontaneous abortions and abnormal offspring. The chromosomal abnormalities unrelated to the translocation chromosomes were reported, and it was named as an interchromosomal effect(ICE). However, the existence of the ICE has remained a source of controversy with some studies observing such an effect, whereas others have not. In this project, I analyzed the ICE using a chromosomal translocation yeast model. As a result, the existence or magnitude of the ICE may be influenced by the characteristics of the rearrangement.

Research Products

• [Journal Article] Molecular basis of maternal age-related increase in oocyte aneuploidy (2012)
  • Author(s): Kurahashi, H., Tsutsumi, M., Nishiyama, S., Kogo, H., Inagaki, H., Ohye, T.
  • Journal Title: Congenit. Anom Volume: 52 Pages: 8-15
• [Journal Article] Mechanism of complex gross chromosomal rearrangements : a commentary on concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation (2012)
  • Author(s): Kurahashi, H., Ohye, T., Inagaki, H., Kogo, H., Tsutsumi, M.
  • Journal Title: J. Hum. Genet Volume: 57 Pages: 81-83
• [Journal Article] Characterization of a novel mouse gene encoding an SYCP3-like protein that relocalizes from the XY Body to the nucleolus during prophase of male meiosis (2011)
  • Author(s): Tsutsumi, M., Kogo, H., Kowa-Sugiyama, H., Inagaki, H., Ohye, T., Kurahashi, H.
  • Journal Title: I. Biol. Reprod Volume: 85 Pages: 165-171
  • Peer Reviewed
• [Journal Article] DNA secondary structure is influencec by genetic variation and alters susceptibility to de novo translocation (2011)
  • Author(s): Kato, T., Inagaki, H., Tong, M., Kogo, H., Ohye, T., Yamada, K., Tsutsumi, M., Emanuel, B. S., Kurahashi, H.
  • Journal Title: Mol. Cytogenet Volume: 4 Pages: 18
  • Peer Reviewed
• [Journal Article] Paternal origin of the de now constitutional t(11 ; 22)(q23 ; q11) (2010)
  • Author(s): Ohye, T., Inagaki, H., Kogo, H., Tsutsumi, M., Kato, T., Tong, M., Macville, M. V. E., Medne, L., Zackai, E. H., Emanuel, B. S., Kurahashi, K.
  • Journal Title: Eur. J. Hum. Genet Volume: 18 Pages: 783-787
  • 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: 293-299
  • 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, B. S. Kurahashi, H.
  • Journal Title: Hum. Mol. Genet Volume: 19 Pages: 2630-2637
  • Peer Reviewed
• [Journal Article] The constitutional t(11 ; 22): implications for a novel mechanism responsible for gross chromosomal rearrangements (2010)
  • Author(s): Kurahashi, H., Inagaki, H., Ohye, T., Kogo, H., Tsutsumi, M., Kato, T., Emanuel, B. S.
  • Journal Title: Clin. Genet Volume: 78 Pages: 299-309
• [Journal Article] 絨毛検査で偶然見つかり切断点の解析を必要とした胎児t(11 ; 22)新生転座 (2010)
  • Author(s): 大江瑞恵, Livija Medne, Beverly S. Emanuel, 倉橋浩樹
  • Journal Title: 遺伝カウンセリング学会誌 Volume: 31巻 Pages: 169-173
  • Peer Reviewed
• [Journal Article] Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells (2009)
  • Author(s): Kurahashi, H., Inagaki, H., Kato, T., Hosoba, E., Kogo, H., Ohye, T., Tsutsumi, M., Bolor, H., Tong, M., Emanuel, B. S.
  • Journal Title: Hum. Mol. Genet Volume: 18 Pages: 3397-3406
  • Peer Reviewed
• [Journal Article] Recent advance in our understanding of the molecular nature of chromosomal abnormalities (2009)
  • Author(s): Kurahashi, H., Bolor, H., Kato, T., Kogo, H., Tsutsumi, M., Inagaki, H., Ohye, T.
  • Journal Title: J. Hum. Genet Volume: 54 Pages: 253-260
• [Journal Article] Mutations of the SYCP3 gene in women with recurrent pregnancy loss (2009)
  • Author(s): Bolor, H., Mori, T., Nishiyama, S., Ito, Y., Hosoba, E., Inagaki, H., Kogo, H., Ohye, T., Tsutsumi, M., Kato, T., Tong, M., Nishizawa, H., Pryor-Koishi, K., Kitaoka, E., Sawada, T., Nishiyama, Y., Udagawa, Y., Kurahashi, H.
  • Journal Title: Am. J. Hum. Genet Volume: 84 Pages: 14-20
  • Peer Reviewed
• [Journal Article] Chromosomal instability mediated by non-B DNA : cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans (2009)
  • Author(s): Inagaki, H., Ohye, T., Kogo, H., Kato, T., Bolor, H., Taniguchi, M., Shaikh, T. H., Emanuel, B. S., Kurahashi, H.
  • Journal Title: Genome. Res Volume: 19 Pages: 191-198
  • Peer Reviewed
• [Presentation] 対合不全のチェックポイントの男女間の違いと不妊・習慣流産 (2011)
  • Author(s): 倉橋浩樹
  • Organizer: 文部科学省科学研究費補助金特定領域研究特定領域研究「生殖系列の世代サイクルとエピゲノムネットワーク」第4回公開シンポジウム
  • Place of Presentation: 豊中
  • Year and Date: 20111117-18
• [Presentation] Analysis of paternal uniparental disomy of chromosome 9 with supernumerary ring chromosome (2011)
  • Author(s): Ohye, T.
  • Organizer: 第34回日本分子生物学会年会
  • Place of Presentation: 横浜
  • Year and Date: 2011-12-14
• [Presentation] Identification of a recombination hotspot sequence at the breakpoint region of the 22q11 deletion using a yeast model (2011)
  • Author(s): Ohye, T.
  • Organizer: 12th International Congress of Human Genetics
  • Place of Presentation: Montreal, Canada
  • Year and Date: 2011-12-13
• [Presentation] 酵母におけるパリンドロームを介した染色体転座の発生メカニズム (2011)
  • Author(s): 大江瑞恵
  • Organizer: 第33回日本分子生物学会年会・第8回日本生化学会大会合同大会
  • Place of Presentation: 神戸
  • Year and Date: 2011-12-07
• [Presentation] 母由来9番過剰リング染色体をともなった9番染色体父性ダイソミー (2011)
  • Author(s): 大江瑞恵
  • Organizer: 第56回日本人類遺伝学会・第ll回東アジア人類遺伝学会共同大会
  • Place of Presentation: 千葉
  • Year and Date: 2011-11-10
• [Presentation] 母由来9番過剰マーカー染色体をともなった9番染色体父性ダイソミーの1例 (2011)
  • Author(s): 大江瑞恵
  • Organizer: 第34回日本小児遺伝学会学術集会
  • Place of Presentation: 横浜
  • Year and Date: 2011-08-11
• [Presentation] 家族性甲状腺髄様癌患者でみられるS891A変異により、非典型症状の副腎褐色細胞腫が初発症状となった1例 (2011)
  • Author(s): 大江瑞恵
  • Organizer: 遺伝医学合同学術集会
  • Place of Presentation: 京都
  • Year and Date: 2011-06-18
• [Presentation] 一般集団におけるt(11 ; 22)(q23 ; q11)均衡型転座保因者数およびエマヌエル症候群患者数推定の試み (2010)
  • Author(s): 大江瑞恵
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: 大宮
  • Year and Date: 2010-10-30
• [Presentation] Paternal origin of the de novo constitutional t(11 ; 22)(q23 ; q11) (2010)
  • Author(s): D Ohye, T.
  • Organizer: European Human Genetics Conference
  • Place of Presentation: Gothenburg, Sweden
  • Year and Date: 2010-06-15
• [Presentation] 絨毛検査で偶然見つかり切断点の解析を必要とした胎児t(11 ; 22)新生転座 (2010)
  • Author(s): 大江瑞恵
  • Organizer: 第34回遺伝カウンセリング学会
  • Place of Presentation: 東京
  • Year and Date: 2010-05-29
• [Presentation] 絨毛検査で偶然見つかり切断点の解析を必要とした胎児t(11 ; 22)新生転座 (2010)
  • Author(s): 大江瑞恵
  • Organizer: 中部出生前研究会
  • Place of Presentation: 名古屋
  • Year and Date: 2010-03-13
• [Presentation] Parental origin of de novo t(11 ; 22)(q23 ; q11) (2009)
  • Author(s): Ohye, T.
  • Organizer: 59th annual meeting of American Society of Human Genetic
  • Place of Presentation: Hawai, USA
  • Year and Date: 2009-12-21
• [Presentation] Identification of recombination hotspot at the breakpoints of 22q11 deletion using yeast model (2009)
  • Author(s): Ohye, T.
  • Organizer: 第32回日本分子生物学会年会
  • Place of Presentation: 横浜
  • Year and Date: 2009-12-12
• [Presentation] 酵母モデルを利用した22ql1欠失切断点にある高頻度組換え配列の同定 (2009)
  • Author(s): 大江瑞恵
  • Organizer: 第54回日本人類遺伝学会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-24
• [Presentation] 遺伝カウンセリング (2009)
  • Author(s): 大江瑞恵
  • Organizer: 遺伝子染色体検査研究班例会
  • Place of Presentation: 名古屋
  • Year and Date: 2009-07-11
• [Presentation] Mutations of the SYCP3 gene in women with recurrent pregnancy loss (2009)
  • Author(s): Kurahashi, H.
  • Organizer: European Human Genetics Conferences
  • Place of Presentation: Austria
  • Year and Date: 2009-05-25
• [Book] 生殖細胞系列の細胞分裂一体細胞分裂と減数分裂の違い、遺伝カウンセリングハンドブック (2011)
  • Author(s): 大江瑞恵、倉橋浩樹
  • Total Pages: 2
  • Publisher: メディカルドゥ
• [Book] 産婦人科臨床で扱われる染色体異常、産婦人科の実際 (2011)
  • Author(s): 西山幸江、西澤春紀、大江瑞恵、宇田川康博、倉橋浩樹
  • Total Pages: 1277-1285
  • Publisher: 金原出版
• [Book] エマヌエル症候群の臨床像と遺伝、小児科 (2010)
  • Author(s): 大江瑞恵、倉橋浩樹
  • Total Pages: 8
  • Publisher: 金原出版
• [Book] ここまでわかった染色体異常症の発生メカニズム、小児内科 (2009)
  • Author(s): 倉橋浩樹、大江瑞恵、ボロル・ハスバイラ、加藤武馬
  • Total Pages: 919-924
  • Publisher: 東京医学社