Updated on 2022/04/05

写真a

 
NAKAZAWA Yuka
 
Organization
Research Institute of Environmental Medicine Division of Stress Adaptation and Protection Lecturer
Graduate School
Graduate School of Medicine
Title
Lecturer

Degree 1

  1. 博士 (医学) ( 長崎大学 ) 

Research Interests 1

  1. DNA repair, human genetics, nucleotide excision repair

Research Areas 4

  1. Environmental Science/Agriculture Science / Chemical substance influence on environment  / DNA修復

  2. Life Science / Pathological biochemistry

  3. Environmental Science/Agriculture Science / Radiation influence  / DNA修復

  4. Life Science / Molecular biology

 

Papers 29

  1. Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair Reviewed International coauthorship

    Yuka Nakazawa, Yuichiro Hara, Yasuyoshi Oka, Okiru Komine, Diana van den Heuvel, Chaowan Guo, Yasukazu Daigaku, Mayu Isono, Yuxi He, Mayuko Shimada, Kana Kato, Nan Jia, Satoru Hashimoto, Yuko Kotani, Yuka Miyoshi, Miyako Tanaka, Akira Sobue, Norisato Mitsutake, Takayoshi Suganami, Akio Masuda, Kinji Ohno, Shinichiro Nakada, Tomoji Mashimo, Koji Yamanaka, Martijn S. Luijsterburg, Tomoo Ogi

    Cell   Vol. 180 ( 6 ) page: 1228 - +   2020.3

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    Authorship:Lead author   Language:Japanese   Publishing type:Research paper (scientific journal)   Publisher:Elsevier BV  

    DOI: 10.1016/j.cell.2020.02.010

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  2. Dealing with transcription-blocking DNA damage: Repair mechanisms, RNA polymerase II processing and human disorders Reviewed International coauthorship

    Jia Nan, Guo Chaowan, Nakazawa Yuka, Heuvel Diana van den, Luijsterburg Martijn S., Ogi Tomoo

    DNA REPAIR   Vol. 106   page: 103192   2021.10

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    Language:Japanese   Publishing type:Research paper (scientific journal)   Publisher:DNA Repair  

    Transcription-blocking DNA lesions (TBLs) in genomic DNA are triggered by a wide variety of DNA-damaging agents. Such lesions cause stalling of elongating RNA polymerase II (RNA Pol II) enzymes and fully block transcription when unresolved. The toxic impact of DNA damage on transcription progression is commonly referred to as transcription stress. In response to RNA Pol II stalling, cells activate and employ transcription-coupled repair (TCR) machineries to repair cytotoxic TBLs and resume transcription. Increasing evidence indicates that the modification and processing of stalled RNA Pol II is an integral component of the cellular response to and the repair of TBLs. If TCR pathways fail, the prolonged stalling of RNA Pol II will impede global replication and transcription as well as block the access of other DNA repair pathways that may act upon the TBL. Consequently, such prolonged stalling will trigger profound genome instability and devastating clinical features. In this review, we will discuss the mechanisms by which various types of TBLs are repaired by distinct TCR pathways and how RNA Pol II processing is regulated during these processes. We will also discuss the clinical consequences of transcription stress and genotype-phenotype correlations of related TCR-deficiency disorders.

    DOI: 10.1016/j.dnarep.2021.103192

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  3. ELOF1 is a transcription-coupled DNA repair factor that directs RNA polymerase II ubiquitylation Reviewed International coauthorship

    van der Weegen Yana, de Lint Klaas, van den Heuvel Diana, Nakazawa Yuka, Mevissen Tycho E. T., van Schie Janne J. M., San Martin Alonso Marta, Boer Daphne E. C., Gonzalez-Prieto Roman, Narayanan Ishwarya V., Klaassen Noud H. M., Wondergem Annelotte P., Roohollahi Khashayar, Dorsman Josephine C., Hara Yuichiro, Vertegaal Alfred C. O., de Lange Job, Walter Johannes C., Noordermeer Sylvie M., Ljungman Mats, Ogi Tomoo, Wolthuis Rob M. F., Luijsterburg Martijn S.

    NATURE CELL BIOLOGY   Vol. 23 ( 6 ) page: 595 - 607   2021.6

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    Language:Japanese   Publishing type:Research paper (scientific journal)   Publisher:Nature Cell Biology  

    Cells employ transcription-coupled repair (TCR) to eliminate transcription-blocking DNA lesions. DNA damage-induced binding of the TCR-specific repair factor CSB to RNA polymerase II (RNAPII) triggers RNAPII ubiquitylation of a single lysine (K1268) by the CRL4CSA ubiquitin ligase. How CRL4CSA is specifically directed towards K1268 is unknown. Here, we identify ELOF1 as the missing link that facilitates RNAPII ubiquitylation, a key signal for the assembly of downstream repair factors. This function requires its constitutive interaction with RNAPII close to K1268, revealing ELOF1 as a specificity factor that binds and positions CRL4CSA for optimal RNAPII ubiquitylation. Drug–genetic interaction screening also revealed a CSB-independent pathway in which ELOF1 prevents R-loops in active genes and protects cells against DNA replication stress. Our study offers key insights into the molecular mechanisms of TCR and provides a genetic framework of the interplay between transcriptional stress responses and DNA replication.

    DOI: 10.1038/s41556-021-00688-9

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  4. XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency. Reviewed International coauthorship

    Guo C*, Nakazawa Y*, Woodbine L*, Bjorkman A, Shimada M, Fawcett H, Jia N, Ohyama K, Li TS, Nagayama Y, Mitsutake N, Pan-Hammarstrom Q, Gennery AR, Lehmann AR, Jeggo PA, Ogi T§.

    Journal of Allergy and Clinical Immunology   Vol. 136   page: 1007-1017   2015.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.jaci.2015.06.007.

  5. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Reviewed International coauthorship

    Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura KI, Ogi T§.

    Nature Genetics   Vol. 44   page: 586-592   2012.5

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    Authorship:Lead author   Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/ng.2229.

  6. Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome Reviewed

    Oka Yasuyoshi, Hamada Motoharu*, Nakazawa Yuka*, Muramatsu Hideki*, Okuno Yusuke*, Higasa Koichiro*, Shimada Mayuko, Takeshima Honoka, Hanada Katsuhiro, Hirano Taichi, Kawakita Toshiro, Sakaguchi Hirotoshi, Ichimura Takuya, Ozono Shuichi, Yuge Kotaro, Watanabe Yoriko, Kotani Yuko, Yamane Mutsumi, Kasugai Yumiko, Tanaka Miyako, Suganami Takayoshi, Nakada Shinichiro, Mitsutake Norisato, Hara Yuichiro, Kato Kohji, Mizuno Seiji, Miyake Noriko, Kawai Yosuke, Tokunaga Katsushi, Nagasaki Masao, Kito Seiji, Isoyama Keiichi, Onodera Masafumi, Kaneko Hideo, Matsumoto Naomichi, Matsuda Fumihiko, Matsuo Keitaro, Takahashi Yoshiyuki, Mashimo Tomoji, Kojima Seiji, Ogi Tomoo

    SCIENCE ADVANCES   Vol. 6 ( 51 )   2020.12

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    Language:English   Publishing type:Research paper (scientific journal)   Publisher:Science Advances  

    DOI: 10.1126/sciadv.abd7197

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  7. A rapid comprehensive assay system for DNA repair activity and cytotoxic effects of DNA damaging reagents by measuring unscheduled DNA synthesis and recovery of RNA synthesis after DNA damage. Reviewed International coauthorship

    Jia N*, Nakazawa Y*, Guo C, Shimada M, Sethi M, Takahashi Y, Ueda H, Nagayama Y, Ogi T§.

    Nature Protocols   Vol. 10   page: 12-24   2015.1

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/nprot.2014.194.

  8. Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia. Reviewed International coauthorship

    Kashiyama K*, Nakazawa Y*, Pilz D*, Guo C*, Shimada M, Sasaki K, Fawcett H, Wing J, Lewin S, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR§, Ogi T§.

    American Journal of Human Genetics   Vol. 92   page: 807-819   2013.5

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.ajhg.2013.04.007.

  9. Topoisomerase I -driven repair of UV -induced damage in NER-deficient cells Reviewed

    Saha Liton Kumar, Wakasugi Mitsuo, Akter Salma, Prasad Rajendra, Wilson Samuel H., Shimizu Naoto, Sasanuma Hiroyuki, Huang Shar-yin Naomi, Agama Keli, Pommier Yves, Matsunaga Tsukasa, Hirota Kouji, Iwai Shigenori, Nakazawa Yuka, Ogi Tomoo, Takeda Shunichi

    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA   Vol. 117 ( 25 ) page: 14412-14420   2020.6

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1073/pnas.1920165117

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  10. Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. Reviewed

    Kato K, Okuno Y, Vasilev FF, Otomo T, Oishi H, Muramatsu H, Kawano Y, Oka Y, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S.

    Journal of Medical genetics   Vol. 117 ( 25 ) page: 14412 - 14420   2020.4

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1136/jmedgenet-2019-106213

  11. Hailey-Hailey disease with oesophageal involvement due to a previously unreported ATP2C1 mutation.

    Kono M, Kodera M, Inasaka Y, Hasegawa I, Muro Y, Nakazawa Y, Ogi T, Akiyama M

    European journal of dermatology : EJD     2019.8

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1684/ejd.2019.3507

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  12. JAK/STAT3 and NF-κB Signaling Pathways Regulate Cancer Stem-Cell Properties in Anaplastic Thyroid Cancer Cells. Reviewed

      Vol. 29 ( 5 ) page: 674-682   2019.5

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1089/thy.2018.0212

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  13. A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation. Reviewed

    Kono M, Sawada M, Nakazawa Y, Ogi T, Muro Y, Akiyama M

    Acta dermato-venereologica   Vol. 99 ( 4 ) page: 458 - 459   2019.1

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.2340/00015555-3119

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  14. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome Reviewed International coauthorship

    Calmels Nadege, Botta Elena, Jia Nan, Fawcett Heather, Nardo Tiziana, Nakazawa Yuka, Lanzafame Manuela, Moriwaki Shinichi, Sugita Katsuo, Kubota Masaya, Obringer Cathy, Spitz Marie-Aude, Stefanini Miria, Laugel Vincent, Orioli Donata, Ogi Tomoo, Lehmann Alan Robert

    JOURNAL OF MEDICAL GENETICS   Vol. 55 ( 5 ) page: 329-343   2018.5

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1136/jmedgenet-2017-104877

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  15. Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations

    Doi Hiroshi, Koyano Shigeru, Miyatake Satoko, Nakajima Shinji, Nakazawa Yuka, Kunii Misako, Tomita-Katsumoto Atsuko, Oda Kayoko, Yamaguchi Yukie, Fukai Ryoko, Ikeda Shingo, Kato Rumiko, Ogata Katsuhisa, Kubota Shun, Hayashi Noriko, Takahashi Keita, Tada Mikiko, Tanaka Kenichi, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Saitsu Hirotomo, Ogi Tomoo, Aihara Michiko, Takeuchi Hideyuki, Matsumoto Naomichi, Tanaka Fumiaki

    JOURNAL OF HUMAN GENETICS   Vol. 63 ( 4 ) page: 417-423   2018.4

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/s10038-017-0408-5

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  16. An adolescent case of xeroderma pigmentosum variant confirmed by the onset of sun exposure-related skin cancer during Crohn's disease treatment

    Terada Aoi, Aoshima Masahiro, Tanizaki Hideaki, Nakazawa Yuka, Ogi Tomoo, Tokura Yoshiki, Moriwaki Shinichi

    JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY   Vol. 1 ( 1 ) page: 23-26   2018.4

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1002/cia2.12011

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  17. Novel function of HATs and HDACs in homologous recombination through acetylation of human RAD52 at double-strand break sites Reviewed International coauthorship

    Yasuda Takeshi, Kagawa Wataru, Ogi Tomoo, Kato Takamitsu A., Suzuki Takehiro, Dohmae Naoshi, Takizawa Kazuya, Nakazawa Yuka, Genet Matthew D., Saotome Mika, Hama Michio, Konishi Teruaki, Nakajima Nakako Izumi, Hazawa Masaharu, Tomita Masanori, Koike Manabu, Noshiro Katsuko, Tomiyama Kenichi, Obara Chizuka, Gotoh Takaya, Ui Ayako, Fujimori Akira, Nakayama Fumiaki, Hanaoka Fumio, Sugasawa Kaoru, Okayasu Ryuichi, Jeggo Penny A., Tajima Katsushi

    PLOS GENETICS   Vol. 14 ( 3 ) page: e1007277   2018.3

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    DOI: 10.1371/journal.pgen.1007277

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  18. Common TFIIH recruitment mechanism in global genome and transcription-coupled repair subpathways Reviewed

    Okuda Masahiko, Nakazawa Yuka, Guo Chaowan, Ogi Tomoo, Nishimura Yoshifumi

    NUCLEIC ACIDS RESEARCH   Vol. 45 ( 22 ) page: 13043-13055   2017.12

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1093/nar/gkx970

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  19. ALC1/CHD1L, a chromatin-remodeling enzyme, is required for efficient base excision repair Reviewed

    Tsuda Masataka, Cho Kosai, Ooka Masato, Shimizu Naoto, Watanabe Reiko, Yasui Akira, Nakazawa Yuka, Ogi Tomoo, Harada Hiroshi, Agama Keli, Nakamura Jun, Asada Ryuta, Fujiike Haruna, Sakuma Tetsushi, Yamamoto Takashi, Murai Junko, Hiraoka Masahiro, Koike Kaoru, Pommier Yves, Takeda Shunichi, Hirota Kouji

    PLOS ONE   Vol. 12 ( 11 ) page: e0188320   2017.11

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    DOI: 10.1371/journal.pone.0188320

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  20. Transplantation of bioengineered rat lungs recellularized with endothelial and adipose-derived stromal cells

    Doi Ryoichiro, Tsuchiya Tomoshi, Mitsutake Norisato, Nishimura Satoshi, Matsuu-Matsuyama Mutsumi, Nakazawa Yuka, Ogi Tomoo, Akita Sadanori, Yukawa Hiroshi, Baba Yoshinobu, Yamasaki Naoya, Matsumoto Keitaro, Miyazaki Takuro, Kamohara Ryotaro, Hatachi Go, Sengyoku Hideyori, Watanabe Hironosuke, Obata Tomohiro, Niklason Laura E., Nagayasu Takeshi

    SCIENTIFIC REPORTS   Vol. 7 ( 1 ) page: 8447   2017.8

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/s41598-017-09115-2

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  21. An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities. Reviewed

    Takahashi Y, Endo Y, Kusaka-Kikushima A, Nakamaura S, Nakazawa Y, Ogi T, Uryu M, Tsuji G, Furue M, Moriwaki S.

    Br J Dermatol   Vol. 177 ( 1 ) page: 253-257   2017.5

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/bjd.15051

  22. PCNA ubiquitylation ensures timely completion of unperturbed DNA replication in fission yeast. Reviewed International coauthorship

    Daigaku Y, Etheridge TJ, Nakazawa Y, Nakayama M, Watson AT, Miyabe I, Ogi T, Osborne MA, Carr AM.

    PLoS Genetics   Vol. 13 ( 5 ) page: e1006789   2017.5

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1371/journal.pgen.1006789.

  23. A ten-year follow up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole genome sequencing. Reviewed

    Ono R, Masaki T, Mayca Pozo F, Nakazawa Y, Swagemakers SM, Nakano E, Sakai W, Takeuchi S, Kanda F, Ogi T, van der Spek PJ, Sugasawa K, Nishigori C§.

    Photodermatology Photoimmunology & Photomedicine   Vol. 32   page: 174-180   2016.7

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/phpp.12240.

  24. Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly- progressing radiosensitive-severe combined immunodeficiency. Reviewed

    Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, Nakazawa Y, Mishima H, Takahashi K, Kondo O, Imai K, Morio T, Ohara O, Ogi T, Furukawa F, Inoue M, Yoshiura K, Kanazawa N§.

    Journal of Clinical Immunology   Vol. 160   page: 255-260   2015.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.clim.2015.07.004.

  25. Hypomorphic PCNA mutation underlies a human DNA repair disorder. Reviewed International coauthorship

    Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM§, Crosby AH§.

    Journal of Clinical Investigation   Vol. 124   page: 3137-3146   2014.7

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1172/JCI74593.

  26. Identification of the First ATRIP-Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR-ATRIP Seckel Syndrome. Reviewed International coauthorship

    Ogi T§*, Walker S*, Stiff T, Hobson, E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AMR§, O'Driscoll M§, Jeggo PA§.

    PLoS Genetics   Vol. 8   page: e1002945   2012.11

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    DOI: 10.1371/journal.pgen.1002945.

  27. Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. Reviewed

    Matsumoto Y, Miyamoto T, Sakamoto H, Izumi H, Nakazawa Y, Ogi T, Tahara H, Oku S, Hiramoto A, Shiiki T, Fujisawa Y, Ohashi H, Sakemi Y, Matsuura S§.

    DNA Repair   Vol. 10   page: 314-321   2011.3

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.dnarep.2010.12.002.

  28. A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives. Reviewed International coauthorship

    Nakazawa Y, Yamashita S, Lehmann AR, Ogi T§.

    DNA Repair   Vol. 9   page: 506-516   2010.5

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.dnarep.2010.01.015.

  29. Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells. Reviewed International coauthorship

    Ogi T§, Limsirichaikul S*, Overmeer R*, Volker M*, Takenaka K*, Cloney R*, Nakazawa Y*, Niimi A, Miki Y, Jaspers N, Mullenders L*, Yamashita S*, Fousteri M*, Lehmann AR§.

    Molecular Cell   Vol. 37   page: 714-727   2010.3

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.molcel.2010.02.009.

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Books 2

  1. Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome.

    Ogi T§, Nakazawa Y, Sasaki K, Guo C, Yoshiura K, Utani A, Nagayama Y.( Role: Joint author)

    Seikagaku  2013 

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    Language:English

  2. 「紫外線高感受性症候群.」, 別冊日本臨床 新領域別症候群シリーズ No.19 先天代謝異常症候群(第2版)(上)

    荻朋男, 中沢由華, 吉浦孝一郎, 宇谷厚志, 永山雄二.( Role: Joint author)

    日本臨床社  2012 

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    Language:Japanese

Presentations 16

  1. Coordinated ubiquitination of RPB1-K1268 and UVSSA-K414 promotes transcription-coupled nucleotide excision repair Invited

    Yuka Nakazawa

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    Event date: 2021.9

    Presentation type:Symposium, workshop panel (nominated)  

  2. 転写と共役したDNA修復機構にはRNAPIIのユビキチン化修飾が必須である

    中沢由華

    第 10 回名古屋大学医学系研究科・生理学研究所合同シンポジウム 

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    Event date: 2020.9

    Presentation type:Oral presentation (general)  

  3. Alterations in the RNA polymerase IIo ubiquitination cause TC-NER defect and Cockayne syndrome-like premature aging phenotype in mice

    Yuka Nakazawa, Yuichiro Hara, Yasuyoshi Oka, Okiru Komine, Diana van den Heuvel, Chaowan Guo, Yasukazu Daigaku, Mayu Isono, Yuxi He, Mayuko Shimada, Kana Katoh, Nan Jia, Satoru Hashimoto, Yuko Kotani, Yuka Miyoshi, Miyako Tanaka, Akira Sobue, Norisato Mitsutake, Takayoshi Suganami, Akio Masuda, Kinji Ohno, Shinichiro Nakada, Tomoji Mashimo, Koji Yamanaka, Martijn S. Luijsterburg, Tomoo Ogi

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    Event date: 2019.12

    Presentation type:Poster presentation  

  4. Alterations in RNA polymerase IIo ubiquitination cause Cockayne syndrome-like premature aging phenotype in mice due to TC-NER defect. International conference

    Yuka Nakazawa, Tomoo Ogi

    International Symposium on XP and other Nucleotide Excision Repair Didsorders 

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    Event date: 2019.3

    Language:English   Presentation type:Poster presentation  

    Country:United Kingdom  

  5. ゲノム不安定性を示す遺伝性疾患の分子病態.

    中沢由華, 荻朋男

    第3回名大医薬系3部局交流シンポジウム〜岐阜薬科大学・岐阜大学G-CHAIN・ラクオリア創薬合同シンポジウム〜 

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    Event date: 2018.11

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:名古屋市   Country:Japan  

  6. ゲノム不安定性を示す遺伝性疾患群の疾患責任遺伝子変異の探索.

    中沢由華、千住千佳子、岡泰由、嶋田繭子、宮崎仁美、郭朝万、賈楠、荻朋男.

    第40回日本分子生物学会年会 

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    Event date: 2017.12

    Language:Japanese   Presentation type:Poster presentation  

    Venue:神戸   Country:Japan  

  7. ゲノム不安定性を示す遺伝性疾患群の病態解析と新規疾患責任遺伝子変異探索.

    中沢由華, 岡泰由, 郭朝万, 賈楠, 唐田清伸, 嶋田繭子, 宮﨑仁美, 千住千佳子, 荻朋男.

    第39回日本分子生物学会年会 

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    Event date: 2016.11

    Language:Japanese   Presentation type:Poster presentation  

    Venue:横浜   Country:Japan  

  8. Screening of microcephaly cases to identify pathogenic mutations in DNA repair genes. International conference

    Nakazawa Y, Oka Y, Karata K, Guo C, Lehmann AR, Ogi T.

    The 10th 3R Symposium 

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    Event date: 2016.11

    Language:English   Presentation type:Poster presentation  

    Country:Japan  

  9. A Screening of Cockayne syndrome like patients identified a new class of disease associated with mutations in the XRCC4 gene. International conference

    Nakazawa Y, Guo C, Woodbine L, Bjorkman A, Shimada M, Pan-Hammarstrom Q, Gennery AR, Lehmann AR, Jeggo PA, Ogi T.

    10th Quinquennial Conference on Responses to DNA damage: from molecule to disease, 

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    Event date: 2016.4

    Language:English   Presentation type:Poster presentation  

    Venue:Egmond aan Zee, The Netherlands   Country:Netherlands  

  10. ゲノム不安定性を示す難治性遺伝性疾患群の症例収集とゲノム・分子機能解析による病態解明研究

    中沢由華、荻朋男、唐田清伸、郭朝万、岡泰由、 賈楠、嶋田繭子、宮崎仁美、千住千佳子

    第38回日本分子生物学会年会 

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    Event date: 2015.12

    Language:Japanese   Presentation type:Poster presentation  

    Venue:神戸   Country:Japan  

  11. XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.

    Nakazawa Y, Ogi T, Guo C, Shimada M, Jia N.

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    Event date: 2015.11

    Language:Japanese   Presentation type:Poster presentation  

    Country:Japan  

  12. ゲノム不安定性を示す難治性遺伝性疾患群の症例収集とゲノム・分子機能解析による病態解明研究

    中沢由華、荻朋男、郭朝万、唐田清伸、岡泰由、賈楠、嶋田繭子、宮崎仁美、千住千佳子

    DNA複製・組換え・修復ワークショップ 

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    Event date: 2015.10

    Language:Japanese   Presentation type:Poster presentation  

    Venue:焼津   Country:Japan  

  13. ERCC1/XPF deficiency causes three NER-deficient disorders: a patient with various symptoms of xeroderma pigmentosum, Cockayne syndrome, and Fanconi anemia. International conference

    Nakazawa Y

    The 9th 3R Symposium 

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    Event date: 2014.11

    Language:English   Presentation type:Poster presentation  

    Country:Japan  

  14. Characterization of new pathogenic mutations associated with radiation sensitivity and developmental abnormalities.

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    Event date: 2014.11

    Language:Japanese   Presentation type:Oral presentation (general)  

    Country:Japan  

  15. Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia. International conference

    Nakazawa Y

    11th International Conference on Environmental Mutagens 

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    Event date: 2013.11

    Language:English   Presentation type:Poster presentation  

    Venue:Brazil   Country:Brazil  

  16. RNA polymerase processing in nucleotide-excision-repair-deficient genetic disorders.

    Nakazawa Y

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    Event date: 2012.12

    Language:Japanese   Presentation type:Poster presentation  

    Country:Japan  

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Research Project for Joint Research, Competitive Funding, etc. 2

  1. ゲノム不安定性疾患に対するスプライシング異常を引き起こすVUSの人工核酸を用いた網羅的検証と創薬ターゲットの導出

    Grant number:20ak0101146  2020.12 - 2023.3

    創薬基盤推進研究事業 

    中沢由華

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    Authorship:Principal investigator  Grant type:Competitive

  2. ゲノム不安定性疾患群を中心とした希少難治性疾患の次世代マルチオミクス解析拠点構築

    2020.4 - 2023.3

    難治性疾患実用化研究事業 

    荻朋男

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    Authorship:Coinvestigator(s)  Grant type:Competitive

KAKENHI (Grants-in-Aid for Scientific Research) 4

  1. 転写共役修復 (TCR)の分子メカニズム解明とTCR欠損ヒト遺伝性疾患の分子病態

    Grant number:21H02399  2021.4 - 2024.3

    科学研究費助成事業  基盤研究(B)

    中沢 由華, 荻 朋男

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    Authorship:Principal investigator 

    Grant amount:\17420000 ( Direct Cost: \13400000 、 Indirect Cost:\4020000 )

    転写と共役したDNA修復機構 (transcription coupled repair: TCR)は、転写が活発に行われている領域に生じたDNA損傷を効率良く修復するシステムであり、生体の恒常性維持に重要なメカニズムである。本研究では、DNA損傷箇所で停止したRNA合成酵素がユビキチン化修飾を受けてTCRを開始・制御する分子機構の詳細解明に取り組むとともに、TCRの破綻により発症するヒト疾患の病態を明らかにすることを目指す。

  2. ゲノム不安定性疾患の新規疾患原因遺伝子変異同定法の確立と探索

    Grant number:21K19844  2021.7 - 2023.3

    科学研究費助成事業  挑戦的研究(萌芽)

    中沢 由華

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    Authorship:Principal investigator 

    Grant amount:\6370000 ( Direct Cost: \4900000 、 Indirect Cost:\1470000 )

    次世代ゲノム解析技術が普及し、各種疾患の発症原因となっている遺伝子変異同定が急速に進む一方で、意義が明らかでない変異 (Variants of Uncertain Significance: VUSs)のデータも大量に蓄積されてきている。本研究では、ゲノム不安定性を示す遺伝性疾患を対象に、マルチオミクス的アプローチによりVUSの病原性を評価し疾患原因変異を同定する新たな手法を確立するとともに、疾患治療薬候補の探索にも取り組む。

  3. DNA二本鎖切断修復機構に関与する機能未知の小頭症新規責任因子の分子機能解析

    Grant number:17H01877  2017.4 - 2020.3

    科学研究費助成事業  基盤研究(B)

    中沢由華

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    Authorship:Principal investigator 

  4. チェルノブイリ放射線誘発甲状腺がんの遺伝子バンク設立と分子遺伝疫学国際共同研究

    2020 - 2024.3

    科学研究費助成事業 

    光武範吏

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    Authorship:Coinvestigator(s) 

Industrial property rights 3

  1. 色素性乾皮症F群治療薬

    荻朋男、中沢由華、小泉誠、小路貴生

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    Application no:特願2019-218038  Date applied:2019.12

    Country of applicant:Domestic  

  2. 日焼けの原因遺伝子

    荻朋男、中沢由華、吉浦孝一郎、佐々木健介

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    Patent/Registration no:特許第5800180号  Date registered:2015.9 

    Country of applicant:Domestic  

  3. 損傷DNA修復物質のスクリーニング方法

    荻朋男、リムシリチャイクルシリパン、中沢由華、山下俊一

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    Patent/Registration no:特許第5549908号  Date registered:2014.5 

    Country of applicant:Domestic  

 

Teaching Experience (On-campus) 4

  1. 自然環境と人間

    2021

     詳細を見る

    本授業科目は、生命科学・医学系分野のテーマについて、学際的、総合的に分析,把握する能力を育むとともに、他の学問分野との関連性について理解することが目的である。本講義の前半は、人体を構成する臓器、細胞、ゲノムに焦点を当て「ゲノムと環境」「免疫・代謝と疾患」を、後半は、脳神経系による外環境の認知と適応に関して「脳科学と疾患」をテーマとして取り上げる。医学・生命科学に関するこれらのテーマについて基礎から最新の話題、最先端の研究まで幅広く学ぶ。

  2. 基盤医科学実習ベーシックトレーニング

    2021

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    ヒト細胞を用いたDNA損傷修復活性の測定

  3. 基盤医科学実習ベーシックトレーニング

    2020

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    ヒト細胞を用いた転写共役DNA修復活性の測定

  4. 自然環境と人間

    2020

     詳細を見る

    本授業科目は、生命科学・医学系分野のテーマについて、学際的、総合的に分析,把握する能力を育むとともに、他の学問分野との関連性について理解することが目的である。本講義の前半は、人体を構成する臓器、細胞、ゲノムに焦点を当て「ゲノムと環境」「免疫・代謝と疾患」を、後半は、脳神経系による外環境の認知と適応に関して「脳科学と疾患」をテーマとして取り上げる。医学・生命科学に関するこれらのテーマについて基礎から最新の話題、最先端の研究まで幅広く学ぶ。