Sperm-specific mechanism that induces the gross chromosomal rearrangements
Project/Area Number |
21390101
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Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Human genetics
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Research Institution | Fujita Health University |
Principal Investigator |
KURAHASHI Hiroki 藤田保健衛生大学, 総合医科学研究所, 教授 (30243215)
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Project Period (FY) |
2009 – 2011
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Project Status |
Completed (Fiscal Year 2011)
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Budget Amount *help |
¥18,460,000 (Direct Cost: ¥14,200,000、Indirect Cost: ¥4,260,000)
Fiscal Year 2011: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2010: ¥6,240,000 (Direct Cost: ¥4,800,000、Indirect Cost: ¥1,440,000)
Fiscal Year 2009: ¥6,890,000 (Direct Cost: ¥5,300,000、Indirect Cost: ¥1,590,000)
|
Keywords | 染色体転座 / 切断点 / 回文配列 / パリンドローム / 十字架型DNA / 非B型DNA / 染色体再構成 / 染色体構造異常 |
Research Abstract |
Gross chromosomal rearrangements(GCRs) are often generated by illegitimate repair between two DNA breakages at regions with nucleotide sequences that potentially adopt a non-B DNA structure. We previously established a plasmid-based model system that recapitulates palindrome-mediated recurrent translocations in humans, and demonstrated that cruciform DNA is required for the rearrangements. In this study, we show that two sequential reactions that cleave the cruciform structures induce the translocation : GEN1-mediated resolution that cleaves diagonally at the four-way junction of the cruciform, and Artemis-mediated opening of the subsequently formed hairpin ends. These two intrinsic pathways that normally fulfill vital functions independently, Holliday junction resolution in homologous recombination and coding joint formation in rearrangement of antigen-receptor genes, act upon the unusual DNA conformation in concert and lead to these recurrent GCRs in humans.
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Report
(4 results)
Research Products
(81 results)
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[Journal Article] Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy2011
Author(s)
Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, DiMauro S, Kaji R, Yokota T, Takeda S, Toda T
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Journal Title
Nature
Volume: 478
Issue: 7367
Pages: 127-131
DOI
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[Journal Article] Polymorphism in annexin A5 gene promoter in Japanese women with recurrent pregnancy loss2011
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
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Journal Title
Mol Hum Reprod
Volume: 17
Issue: 7
Pages: 447-452
DOI
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[Journal Article] Global gene expression profiling in early-stage polycystic kidney disease in the Han : SPRD Cy rat identifies a role for RXR signaling2011
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
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Journal Title
Am J Physiol Renal Physiol
Volume: 300
Issue: 1
Pages: F177-F188
DOI
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Peer Reviewed
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[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.
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Journal Title
Mol Hum Reprod
Volume: (In press)
Related Report
Peer Reviewed
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[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.
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Journal Title
Am J Physiol Renal Physiol
Volume: (In press)
Related Report
Peer Reviewed
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[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
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Journal Title
Eur J Hum Genet
Volume: 18(7)
Pages: 783-7
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Peer Reviewed
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[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
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Journal Title
Am J Hum Genet
Volume: 87(2)
Pages: 209-18
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Peer Reviewed
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[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.
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Journal Title
Eur J Hum Genet
Volume: 18
Pages: 783-7
Related Report
Peer Reviewed
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[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, Haldem an-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.
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Journal Title
Am J Hum Genet
Volume: 87
Pages: 209-18
Related Report
Peer Reviewed
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[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.
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Journal Title
Gynecol Obstet Invest
Volume: 69
Pages: 116-21
Related Report
Peer Reviewed
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[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.
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Journal Title
Am J Reprod Immunol
Volume: 64
Pages: 68-76
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Peer Reviewed
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[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.
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Journal Title
Int J Cardiol
Volume: 145
Pages: 333-4
Related Report
Peer Reviewed
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[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
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Journal Title
Gynecologic and Obstetric Investigation 69
Pages: 116-121
Related Report
Peer Reviewed
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[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
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Journal Title
Hum Mol Genet
Volume: 18(18)
Pages: 3397-3406
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[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
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Journal Title
American Journal of Human Genetics 84
Pages: 14-20
Related Report
Peer Reviewed
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[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
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Journal Title
Human Molecular Genetics 18
Pages: 3397-3406
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Peer Reviewed
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[Presentation] Identification of a novel palindrome mediated translocation associated with the t(3 ; 8) of hereditary renal cancer2011
Author(s)
Kato T, Sheridan MB, Hacker AM, Inagaki H, Glover TW, Plon SE, Drabkin HA, Gemmill RM, Kurahashi H, Emanuel BS
Organizer
The 12th International Congress of Human Genetics
Place of Presentation
Montreal, Canada
Related Report
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[Presentation] Polymorphisms in the annexin A5 gene promoter in Japanese women with recurrent pregnancy loss2011
Author(s)
Kurahashi H, 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, Negi R, Markoff A, Yanagihara I, Udagawa, Y
Organizer
European Society of Human Genetics Conference 2011
Place of Presentation
Amsterdam, Netherlands
Related Report
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[Presentation] Polymorphisms in the annexin A5 gene promoter in Japanese women with recurrent pregnancy loss2011
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
Organizer
59th Annual Clinical Meeting, ACOG
Place of Presentation
Washington DC, USA
Related Report
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[Presentation] Polymorphisms in the annexin A5 gene promoter in Japanese women with recurrent pregnancy loss2011
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
Organizer
27th Annual Meeting of ESHRE-Stockholm 2011
Place of Presentation
Stockholm, Sweden
Related Report
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[Presentation] Identification of a novel palindrome mediated translocation associated with the t(3;8) of hereditary renal cancer2011
Author(s)
Kato T, Sheridan MB, Hacker AM, Inagaki H, Glover TW, Plon SE, Drabkin HA, Gemmill RM, Kurahashi H, Emanuel BS
Organizer
The 12th International Congress of Human Genetics
Place of Presentation
Montreal, Canada
Related Report
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[Presentation] PPAR-gamma agonist ameliorates kidney and liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease2011
Author(s)
Yoshihara D, Kurahashi H, Morita M, Kugita M, Hiki Y, Aukema HM, Yamaguchi T, Calvet JP, Wallace DP, Nagao S
Organizer
World Congress of Nephrology 2011
Place of Presentation
Vancouver, Canada
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[Presentation] Global gene expression profiling in kidneys of PPAR-gamma agonist-treated PCK rats, an orthologous model of human ARPKD2011
Author(s)
Yoshihara D, Kugita M, Kurahashi H, Morita M, Hiki Y, Yamaguchi T, Aukema HM, Wallace DP, Calvet JP, Toyohara T, Abe T, Nagao S
Organizer
American Society of Nephrology 44th Annual Meetine & Scientific Exposition
Place of Presentation
Philadelphia, PA USA
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[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
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[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
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[Presentation] Parental origin of de novo t(11 ; 22)(q23 ; q11)2009
Author(s)
Ohye T, Inagaki H, Kogo H, Tsutsumi M, Kato T, Tong M, Macville MV, Medne L, Zackai EH, Emanuel BS, Kurahashi H
Organizer
59th annual meeting of American Society of Human Genetics
Place of Presentation
Hawai, USA
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