SHINYA MATSUURA

Last Updated :2022/09/01

Affiliations, Positions
Research Institute for Radiation Biology and Medicine, Professor
Web Site
E-mail
shinyahiroshima-u.ac.jp
Other Contact Details
1-2-3, Kasumi, Minami-ku, Hiroshima, Japan
TEL : (+81)82-257-5809 FAX : (+81)
Self-introduction
Our research group is engaged in advanced molecular and cellular biology research with a focus on genetic medicine. In particular, we focus on human genetic diseases with chromosomal instability, and aim to investigate DNA double-strand break repair mechanisms involved in radiation carcinogenesis, cell cycle checkpoints and centrosome functions. Furthermore, we aim to contribute to society by producing research outcome that can be applied to the diagnosis and treatment of cancer and aneuploidy-related disorders.

Basic Information

Major Professional Backgrounds

  • 1990/04/01, 1991/03/31, Yamaguchi University Hospital, Medical Staff
  • 1991/04/01, 1993/03/31, Japan Society for the Promotion of Science for Japanese Junior Scientists, Fellow
  • 1999/04/01, 2002/07/31, Hiroshima University, RIRBM, Assistant professor
  • 1995/08/01, 1999/03/31, Hiroshima University, RIRBM, Research associate
  • 1993/08/01, 1995/07/31, University of London, St. Marys Hospital medical School, Visiting Scientist
  • 2002/08/01, Hiroshima University, RIRBM, Professor

Educational Backgrounds

  • Yamaguchi University, Faculty of Medicine, Japan, 1979/04, 1985/03
  • Yamaguchi University, Graduate School, Division of Medicine, Japan, 1986/04, 1990/03

Academic Degrees

  • Doctor of Medicine, Yamaguchi University

Educational Activity

  • [Bachelor Degree Program] School of Medicine : Program of Medicine : Medicine
  • [Master's Program] Graduate School of Biomedical and Health Sciences : Division of Integrated Health Sciences : Program of Biomedical Science
  • [Doctoral Program] Graduate School of Biomedical and Health Sciences : Division of Integrated Health Sciences : Program of Biomedical Science
  • [Doctoral Program] Graduate School of Biomedical and Health Sciences : Division of Biomedical Sciences : Program of Radiation Biology and Medicine

Research Fields

  • Biological Sciences;Genome science;Medical genome science
  • Medicine,dentistry, and pharmacy;Basic medicine;Pathological medical chemistry

Research Keywords

  • DNA double strand break repair
  • Spindle assembly checkpoint
  • Radiosensitivity
  • Ciliopathy
  • Genome editing

Affiliated Academic Societies

  • Japan Pediatric Society, 1985
  • Molecular Biology Society of Japan, 1990
  • American Society of Human Genetics, 1990
  • Japanese Society of Human Genetics, 1991
  • Japan Radiation Research Society, 1995
  • Japanese Cancer Association, 1995

Educational Activity

Course in Charge

  1. 2022, Liberal Arts Education Program1, 2Term, War and Peace from the Viewpoint of Medicine
  2. 2022, Undergraduate Education, First Semester, Radiation Biology & Radiation Health Risk Sciences
  3. 2022, Undergraduate Education, First Semester, Human genetics
  4. 2022, Undergraduate Education, Intensive, Practice for medical research
  5. 2022, Graduate Education (Doctoral Program) , 1Term, Integrated radiation medical science
  6. 2022, Graduate Education (Doctoral Program) , Second Semester, Long-term Fieldwork/Long-term Internship
  7. 2022, Graduate Education (Master's Program) , First Semester, Seminar
  8. 2022, Graduate Education (Master's Program) , Second Semester, Seminar
  9. 2022, Graduate Education (Master's Program) , First Semester, Research
  10. 2022, Graduate Education (Master's Program) , Second Semester, Research
  11. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar
  12. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar
  13. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Research
  14. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Research
  15. 2022, Graduate Education (Master's Program) , 1Term, Medical Ethics A
  16. 2022, Graduate Education (Doctoral Program) , 3Term, Medical Ethics B
  17. 2022, Graduate Education (Doctoral Program) , 1Term, Integrated Radiation Medical Science
  18. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Genetics and Cell Biology
  19. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Genetics and Cell Biology
  20. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Genetics and Cell Biology
  21. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Genetics and Cell Biology
  22. 2022, Graduate Education (Doctoral Program) , Second Semester, Introduction to Radiation Biology
  23. 2022, Graduate Education (Doctoral Program) , Second Semester, History of Hiroshima Restoration
  24. 2022, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science

Research Activities

Academic Papers

  1. Cytoplasmic, but not nuclear, p16 expression may signal poor prognosis in high-grade astrocytomas, JOURNAL OF NEURO-ONCOLOGY, 77(3), 273-277, 200605
  2. Homologous recombination repair is regulated by domains at the N- and C-terminus of NBS1 and is dissociated with ATM functions, ONCOGENE, 26(41), 6002-6009, 200709
  3. TopBP1 associates with NBS1 and is involved in homologous recombination repair, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 362(4), 872-879, 20071103
  4. Zinc-finger nuclease-mediated targeted insertion of reporter genes for quantitative imaging of gene expression in sea urchin embryos, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 109(27), 10915-10920, 20120703
  5. Efficient TALEN construction and evaluation methods for human cell and animal applications, GENES TO CELLS, 18(4), 315-326, 201304
  6. Repeating pattern of non-RVD variations in DNA-binding modules enhances TALEN activity, SCIENTIFIC REPORTS, 3, 20131129
  7. ★, TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS ( MVA) syndrome, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 111(4), 1461-1466, 20140128
  8. Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia, JOURNAL OF THE NEUROLOGICAL SCIENCES, 337(1-2), 219-223, 20140215
  9. ★, Xist expression from an Xist YAC transgene carried on the Mouse Y chromosome, Human molecular genetics, 5(4), 451-459, 19960401
  10. Investigation of the polymorphic Avall site by a PCR-based assay at the human CD18 gene locus., Human Genetics, 93, 721, 19940401
  11. Leukocyte Adhesion Deficiency : identification of novel mutations in two Japanese patients with a severe form, Biochem. Biophys. Res. Commun., 184, 1460-1467, 19920401
  12. ★, Genetic Mapping using Microcell-mediated chromosome transfer suggests a Locus for Nijmegen Breakage syndrome at Chromosome 8q21-24, American Journal of Human Genetics, 60(6), 1487, 19970401
  13. ★, Positional cloning of the gene for Nijmegen breakage syndrome, Nature genetics, 19(2), 179, 19980401
  14. Expression of Full-Length NBS1 Protein Restors Normal Radiation Responses in Cells from Nijmegen Breakage Syndrome Patients, Biochemical and Biophysical Reseach Communications, 265, 716-721, 19990601
  15. Inverted insertion (9) (q34.3q22.3q21.2) and its recombination product: duplication 9q21.2q22.3., Jpn J Hum Genet, 3, 45-48, 19870401
  16. Radiographic measurements of metacarpophalangeal lengths in Japanese children., Jpn J Hum Genet, 34, 159-168, 19890401
  17. Nucleotide sequence of the human liver-type alkaline phosphatase cDNA., Nucl. Acids Res., 17, 2129-2129, 19890401
  18. ★, Human adenylate kinase deficiency associated with hemolytic anemia: a single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase., J. Biol. Chem., 264, 10148-10155, 19890401
  19. Isolation of a Y chromosomal DNA sequence and its clinical application., Jpn J Hum Genet, 35, 331-339, 19900401
  20. Characterization of a 5'-flanking region of the human liver/bone/kidney alkaline phosphatase gene: two kinds of a mRNA from a single gene., Biochem. Biophys. Res. Commun., 168, 993-1000, 19900401
  21. Prenatal diagnosis of infantile hypophosphatasia., Prenatal Diagnosis, 11, 305-309, 19910401
  22. Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2)., Am J Med Genet, 41, 225-229, 19910401
  23. Telomere association of human chromosomes induced by aphidicolin, Mutation Research, 269, 107-111, 19920401
  24. Y-derived sequence detected in minute chromosomes by polymerase chain reaction and in situ hybridization., Clin. Genet., 42, 80-83, 19920401
  25. Tricho-rhino-phalangeal syndrome type III., Am J Med Genet, 49, 349-350, 19940401
  26. The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11., Am.J.Hum.Genet., 58, 885-888, 19960401
  27. Inhibitory action of (-)-epigallocatechin gallate on radiation-induced mouse oncogenic transformation., Cancer lett., 112, 135-139, 19970401
  28. Estimation of Dose absorbed fraction for 131I-beta rays in rat thyroid., J. Radiat. Res., 39, 223-230, 19980401
  29. Radiation induction of p53 in cells from Nijmegen Breakage Syndrome and functional mapping of the underlying gene at 8q21., Disease Markers., 14, 26-27, 19980401
  30. Radiation induction of p53 in cells from Nijmegen breakage syndrome is defective but not similar to ataxia-telangiectasia., Biochem. Biophys. Res. Commun., 242, 602-607, 19980401
  31. Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients., J. Hum. Genet., 44, 48-51, 19990401
  32. Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer., Oncogene, 18, 3422-3426, 19990401
  33. Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21, which contains the Nijmegen breakage syndrome, NBS1., Genomics, 55, 242-247, 19990401
  34. A polymorphic CA repeat marker at the human 27-kD calbindin (CALB1) locus., J. Hum. Genet., 44, 414-415, 19990401
  35. Neutron Generator (HIRRAC) and Dosimetry study., J. Rad. Res., 40, 14-20, 19990401
  36. Cell cycle and LET dependence for radiation-induced mutation: possible mechanism for reversed dose-rate effect., J. Rad. Res., 40, 45-52, 20000401
  37. Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability., Oncogene, 21, 8967-8980, 20020401
  38. Leukocyte adhesion molecules and immunodeficiency., 427-331, 19920401
  39. Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex, Advances in Biophysics, 38, 65-80, 20040401
  40. Nijmegen breakage syndrome, ARCHIVES OF DISEASE IN CHILDHOOD, 82(5), 400-406, 200005
  41. Absence of mutations in the NBS1 gene in B-cell malignant lymphoma patients, ANTICANCER RESEARCH, 20(3B), 1897-1900, 2000
  42. ★, Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint, AMERICAN JOURNAL OF HUMAN GENETICS, 67(2), 483-486, 200008
  43. Japanese family with an autosomal dominant chromosome instability syndrome: A new neurodegenerative disease?, AMERICAN JOURNAL OF MEDICAL GENETICS, 94(4), 265-270, 20001002
  44. Comparative genomic hybridization analysis suggests a gain of chromosome 7p associated with lymph node metastasis in non-small cell lung cancer, ONCOLOGY REPORTS, 8(1), 83-88, 2001
  45. The forkhead-associated domain of NBS1 is essential for nuclear foci formation after irradiation but not essential for hRAD50 center dot hMRE11 center dot NBS1 complex DNA repair activity, JOURNAL OF BIOLOGICAL CHEMISTRY, 276(1), 12-15, 20010105
  46. Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl, AMERICAN JOURNAL OF MEDICAL GENETICS, 100(1), 9-12, 20010415
  47. Studies of mutagenesis caused by low dose rate tritium radiation using a novel hyper-sensitive detection system, FUSION SCIENCE AND TECHNOLOGY, 41(3), 413-416, 200205
  48. Nbs1 is essential for DNA repair by homologous recombination in higher vertebrate cells, NATURE, 420(6911), 93-98, 20021107
  49. NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain, CURRENT BIOLOGY, 12(21), 1846-1851, 20021029
  50. Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability, ONCOGENE, 21(58), 8967-8980, 20021216
  51. p16 gene transfer increases cell killing with abnormal nucleation after ionising radiation in glioma cells, BRITISH JOURNAL OF CANCER, 89(9), 1802-1811, 20031103
  52. NBS1 and its functional role in the DNA damage response, DNA REPAIR, 3(8-9), 855-861, 2004
  53. The Nijmegen breakage syndrome gene and its role in genome stability, CHROMOSOMA, 113(2), 53-61, 200409
  54. R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients, JOURNAL OF HUMAN GENETICS, 50(7), 353-356, 200507
  55. ★, Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A(4), 358-367, 20060215
  56. Centrosome amplification induced by survivin suppression enhances both chromosome instability and radiosensitivity in glioma cells, BRITISH JOURNAL OF CANCER, 98(2), 345-355, 20080122
  57. Absence of Ku70 gene obliterates X-ray-induced lacZ mutagenesis of small deletions in mouse tissues, RADIATION RESEARCH, 170(2), 216-223, 200808
  58. Combined BubR1 protein down-regulation and RASSF1A hypermethylation in Wilms tumors with diverse cytogenetic changes, MOLECULAR CARCINOGENESIS, 47(9), 660-666, 200809
  59. NBS1 prevents chromatid-type aberrations through ATM-dependent interactions with SMC1, RADIATION RESEARCH, 170(3), 345-352, 200809
  60. NBS1 regulates a novel apoptotic pathway through Bax activation, DNA REPAIR, 7(10), 1705-1716, 20081001
  61. Histone H2AX participates the DNA damage-induced ATM activation through interaction with NBS1, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 380(4), 752-757, 20090320
  62. ★, BubR1 localizes to centrosomes and suppresses centrosome amplification via regulating Plk1 activity in interphase cells, ONCOGENE, 28(31), 2806-2820, 200908
  63. Sporadic neonatal Fanconi's anemia with VACTERL association, PEDIATRICS INTERNATIONAL, 52(1), 141-142, 201002
  64. Mutations of optineurin in amyotrophic lateral sclerosis, NATURE, 465(7295), 223-U109, 20100513
  65. HpSulf, a heparan sulfate 6-O-endosulfatase, is involved in the regulation of VEGF signaling during sea urchin development., Mechanisms of development, 127(3-4), 235-245, 2010
  66. WRN participates in translesion synthesis pathway through interaction with NBS1, MECHANISMS OF AGEING AND DEVELOPMENT, 131(6), 436-444, 201006
  67. Two unrelated patients with MRE1 1A mutations and Nijmegen breakage syndrome-like severe microcephaly, DNA REPAIR, 10(3), 314-321, 20110307
  68. ★, Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates, HUMAN MOLECULAR GENETICS, 20(10), 2058-2070, 20110515
  69. NBS1 Recruits RAD18 via a RAD6-like Domain and Regulates Pol eta-Dependent Translesion DNA Synthesis, MOLECULAR CELL, 43(5), 788-797, 20110902
  70. Nucleolin Participates in DNA Double-Strand Break-Induced Damage Response through MDC1-Dependent Pathway, PLOS ONE, 7(11), 20121107
  71. ★, The Microtubule-Depolymerizing Activity of a Mitotic Kinesin Protein KIF2A Drives Primary Cilia Disassembly Coupled with Cell Proliferation, CELL REPORTS, 10(5), 664-673, 20150210
  72. YAP is essential for tissue tension to ensure vertebrate 3D body shape, NATURE, 521(7551), 217-+, 20150514
  73. Ciliopathy in PCS (MVA) syndrome, ONCOTARGET, 6(28), 24582-24583, 2015
  74. Obituary: a eulogy to the late Professor Tadashi Kajii (1929-2016), JOURNAL OF HUMAN GENETICS, 61(8), 677-677, 2016
  75. Wilms tumor accompanied by premature chromatid separation, PEDIATRIC BLOOD & CANCER, 64(3), 2017
  76. Cloning of the NBS1 geng for Nijmegen breakage syndrome, 21, 19981201
  77. Nijmegen breakage syndrome : Analysis of an 800-kb genomic sequence, 21, 19981201
  78. High LET radiation-indcued cellular transformation and analysis of inversed dose rate effects by using(hamster x human X-chromosome) hybrid cells., Biological sciences in space, 13(3), 248-249, 199909
  79. Proton W-value calculation using a developped proton track structure code, 57, 182-185, 19980918
  80. Enhanced mutation of HPRT locus by ionizing radiation in combination with high gravity., Biological sciences in space, 14(3), 224-224, 200010
  81. Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients, Journal of Human Genetics, 44(1), 48-51, 19990101
  82. A polymorphic CA repeat marker at the human 27-kD calbindin (CALB1) locus, 44(6), 414-415, 19991101
  83. Establishment of new cell lines from patients with Nijmegen Breakage Syndrome and the genetic complementation group, Tissue culture research communications : the journal of experimental & applied cell culture research, 15(1), 19960331
  84. Sporadic neonatal Fanconi's anemia with VACTERL association, Pediatrics international : official journal of the Japan Pediatric Society, 52(1), 141-142, 20100201
  85. Activation of ATM kinase in NBS lymphoblastoid cells, Nagasaki Igakkai zasshi = Nagasaki medical journal, 75, 281-284, 200009
  86. A new chromosomal instability syndrome with defective mitotic-spindle checkpoints, Nagasaki Igakkai zasshi = Nagasaki medical journal, 75, 297-299, 200009
  87. Neutron Generator (HIRRAC) and Dosimetry Study :, Journal of radiation research, 40(0), 14-20, 1999
  88. Cell Cycle and LET Dependence for Radiation-induced Mutation : A Possible Mechanism for Reversed Dose-rate Effect :, Journal of radiation research, 40(0), 45-52, 1999
  89. NBS1 is involved in recognition of DNA damage and initiation of homologous recombination., Journal of radiation research, 43(4), 200212
  90. Dissociation of ATM/NBS1 functions in telomere maintenance, Journal of radiation research, 43(4), 200212
  91. Histone H2AX regulates the formation of NBS1 foci on DNA damage sites, Journal of radiation research, 43(4), 200212
  92. Analysis of the function of NBS1 in DNA double-strand break repair, Journal of radiation research, 43(4), 200212
  93. Mutation screening for a novel cancer-predisposition syndrome of total PCS, Journal of radiation research, 43(4), 200212
  94. Reversed dose-rate effect of high LET radiation in mutation induction, Journal of radiation research, 42(4), 200112
  95. The function of NBS1 and histone H2AX in the early process of DNA repair., Journal of radiation research, 42(4), 200112
  96. Association of DNA repair protein NBS1 with telomere maintenance, Journal of radiation research, 42(4), 200112
  97. Association of cells from Fanconi anemia patients with radiation sensitivity, Journal of radiation research, 42(4), 200112
  98. Establishement of mouse Nbs1-deficient cell lines by gene targeting, Journal of radiation research, 42(4), 200112
  99. Complementation studies of immortalized cell lines from infants with total PCS, Journal of radiation research, 42(4), 200112
  100. Somatic Mutation Caused by Low Dose Rate Tritium Radiation : Studies Using A Hyper-sensitive DetectionSystem, Journal of radiation research, 42(4), 200112
  101. Bystander mutagenic effect of alpha particle in human-hamster hybrid cells, Journal of radiation research, 42(4), 200112
  102. Inhibition of radiation-induced oncogenic transformation in C3H10T1/2 cells by green tea component, (-)-epigallocatechin gal late., Journal of radiation research, 36(4), 199512
  103. The genetic complementation assay of Nijmegen breakage syndrome witit ataxia telangiectasia on the basis of radiation sensitivity to cell killing., Journal of radiation research, 36(4), 199512
  104. Genetic heterogeneity of ataxia-telangiectasia-like hamster mutant irs2 with Nijmegen breakage syndrome., Journal of radiation research, 36(4), 199512
  105. DNA-dependent protein kinase restores mouse scid mutation, Journal of radiation research, 36(4), 199512
  106. Genetic heterogeneity of ataxia-telangiectasia-like hamster mutant irs2 with Nijmegen breakage syndrome, Journal of radiation research, 37(4), 199612
  107. Radiation-induced HPRT mutation of a radiation sensitive hamster cell line irs1SF, Journal of radiation research, 37(4), 199612
  108. The Genetic Homogeneity of Nijmegen Breakage Syndrome V1 and V2., Journal of radiation research, 37(4), 199612
  109. Cell cycle and LET dependence for 6-thioguanine-resistant mutation induced by heavy ion beam in mouse L5178Y cells, Journal of radiation research, 38(4), 199712
  110. Complementation Assay between Radiation-Sensitive irs2 Mutant and Ataxia-Telangiectasia Cell, Journal of radiation research, 38(4), 199712
  111. Haplotype Analysis of Nijmegen Breakage Syndrome and Construction of Physical Map of Candidate Region., Journal of radiation research, 38(4), 199712
  112. Genetic Mapping of Nijmegen Breakage Syndrome using Functional Complementation Assays and Homozygosity Mapping, Journal of radiation research, 38(4), 199712
  113. Mutation Analysis of the Fanconi Anemia Genes in Japanese Patients, Journal of radiation research, 38(4), 199712
  114. LET, cell cycle dependence for mutation induction and spectrum in HPRT locus, Journal of radiation research, 40(4), 199912
  115. Development of a Radio-sensitive Mutation System for the Study of Dose Rate Effects of Space High LET Radiation, Journal of radiation research, 40(4), 199912
  116. Mapping of the underlying gene for rare genetic complementation group Fanconi anemia, Journal of radiation research, 40(4), 199912
  117. Functionally important domain analysis of the Nijimegen breakage syndrome gene. NBS1, Journal of radiation research, 40(4), 199912
  118. Mutation screening of the NBS1 gene in sporadic malignant lymphoma, Journal of radiation research, 40(4), 199912
  119. NBS1 Regulates Apoptosis induced by ɤ-irradiation in Lymphoblastoid, Journal of radiation research, 40(4), 199912
  120. Function of NBS1 in Activation of ATM kinase in Response to IR., Journal of radiation research, 41(4), 200012
  121. Construction of Nbs1 knockout cell line using chicken DT40, Journal of radiation research, 41(4), 200012
  122. Accelerated telomere shortening by disruption of DNA repair protein NBS1, Journal of radiation research, 41(4), 200012
  123. NBS1, the Nijmegen breakage syndrome protein, regulates the localization of DNA repair complex hRAD50/hMRE11/NBS1, Journal of radiation research, 41(4), 200012
  124. Screening of protein interacting with FANCG by Yeast two-hybrid system, Journal of radiation research, 41(4), 200012
  125. Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic spindle checkpoint, Journal of radiation research, 41(4), 200012
  126. Positional cloning of the gene for Nijmegen breakage syndrome, Journal of radiation research, 39(4), 199812
  127. Nijmegen breakage syndrome : Sequence analysis of an 800-kb genomic region on chromosome 8q21., Journal of radiation research, 39(4), 199812
  128. The relationship between NBS1 and cell death induced by ɤ-ray irradiation in lymphoblastoid, Journal of radiation research, 39(4), 199812
  129. Mutation Analysis of the Fanconi Anemia Gene FAA in Japanese patients, Journal of radiation research, 39(4), 199812
  130. Radiation-induced teratogenicity and embryo lethality in the scid mice., Journal of radiation research, 39(4), 199812
  131. O-11. The optimal conditions for cytological diagnosis of total premature chromatid separation (PCS), a novel cancer-prone genetic trait associated with mitotic checkpoint defect(Abstracts of the oral and poster presentations)(The 53rd Annual Meeting of the Society of Chromosome Research), Chromosome science, 6(4), 2002
  132. S-3-1 Mechanisms of DNA double-strand break repair(Biological Effects of Low Dose and Low Dose-rate Irradiations, Abstracts of the 46th Annual Meeting of the Japan Radiation Research Society), Journal of radiation research, 44(4), 20031215
  133. 98 Localization of Rad51 protein in cells from patients with Fanconi Anemia D1 group(Repair of radiation damage, Abstracts of the 46th Annual Meeting of the Japan Radiation Research Society), Journal of radiation research, 44(4), 20031215
  134. 206 Functional Domain Analysis of NBS1 Gene in Homologous Recombinational Repair(Physics, chemistry and DNA damage, Abstracts of the 46th Annual Meeting of the Japan Radiation Research Society), Journal of radiation research, 44(4), 20031215
  135. 242 Analysis of apoptosis induction in Nbs1 deficient cells(Apoptosis related, Abstracts of the 46th Annual Meeting of the Japan Radiation Research Society), Journal of radiation research, 44(4), 20031215
  136. O-15. Chromosome instability and cancer predisposition in the PCS (premature chromatid separation) syndrome(Abstracts of the oral and poster presentations,Abstracts of the 55th Annual Meeting of the Society of Chromosome Research), Chromosome science, 8(4), 2004
  137. The cancer prone PCS syndrome : relationship between chromosome dynamics aberration and centrosome amplification(Minireviews with the main theme: "Past, Current and Perspective Studies of the Genome, Chromosomes, and Chromatin") :, Chromosome science, 11(1), 25-28, 2008
  138. WRN participates in translesion synthesis pathway through interaction with NBS1., Mechanisms of ageing and development, 131(6), 436-444, 201006
  139. Nucleolin Participates in DNA Double-Strand Break-Induced Damage Response through MDC1-Dependent Pathway., PloS one, 7(11), 20121107
  140. Repeating pattern of non-RVD variations in DNA-binding modules enhances TALEN activity., Scientific reports, 3, 20131129
  141. NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain., Current biology : CB, 12(21), 2002
  142. Analysis of cells from the patients with PCS (premature chromatid separation) syndrome, The Japan Radiation Research Society Annual Meeting Abstracts, 2004(0), 63-63, 2004
  143. Cell cycle abnormalities in patients with Pericentrin-Seckel syndrome, The Japan Radiation Research Society Annual Meeting Abstracts, 2009(0), 93-93, 2009
  144. NBS1 and its functional role in the DNA damage response., DNA repair, 3(8-9)
  145. Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex., Advances in biophysics, 38(Complete), 65-80, 2004
  146. R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients., Journal of human genetics, 50(7), 353-356, 2005
  147. Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome., American journal of medical genetics. Part A, 140(4), 358-367, 2006
  148. Cytoplasmic, but not nuclear, p16 expression may signal poor prognosis in high-grade astrocytomas., Journal of neuro-oncology, 77(3), 273-277, 2006
  149. [Smith-Lemli-Opitz syndrome]., Nihon rinsho. Japanese journal of clinical medicine, Suppl 3, 488-491, 2006
  150. TopBP1 associates with NBS1 and is involved in homologous recombination repair., Biochemical and biophysical research communications, 362(4), 872-879, 2007
  151. Cancer predisposition and ciliopathy caused by loss of BUBR1, a mitotic spindle checkpoint regulator, 65(4), 308-310, 201204
  152. Identification of mutation causing cancer-prone hereditary disease using a novel method for the introduction of single-nucleotide substitution, 252(2), 153-158, 20150110
  153. TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS ( MVA) syndrome, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 111(4), 1461-1466, 2014
  154. YAP is essential for tissue tension to ensure vertebrate 3D body shape, NATURE, 521(7551), 217-+, 2015
  155. Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly., DNA repair, 10(3), 2011
  156. Zinc-finger nuclease-mediated targeted insertion of reporter genes for quantitative imaging of gene expression in sea urchin embryos., Proceedings of the National Academy of Sciences of the United States of America, 109(27), 2012
  157. The Microtubule-Depolymerizing Activity of a Mitotic Kinesin Protein KIF2A Drives Primary Cilia Disassembly Coupled with Cell Proliferation., Cell reports, 2015
  158. Efficient TALEN construction and evaluation methods for human cell and animal applications., Genes to cells : devoted to molecular & cellular mechanisms, 18(4), 2013
  159. Ciliopathy in PCS (MVA) syndrome., Oncotarget, 6(28), 2015
  160. Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates., Human molecular genetics, 20(10), 2011
  161. Repeating pattern of non-RVD variations in DNA-binding modules enhances TALEN activity., Scientific reports, 3, 2013
  162. ★, Evaluation of ATM heterozygous mutations underlying individual differences in radiosensitivity using genome editing in human cultured cells, SCIENTIFIC REPORTS, 7, 20170720
  163. ★, PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation, HUMAN MOLECULAR GENETICS, 26(22), 4429-4440, 20171115
  164. Updated summary of genome editing technology in human cultured cells linked to human genetics studies, JOURNAL OF HUMAN GENETICS, 63(2), 133-143, 201802
  165. Induction of somatic mutations by low-dose X-rays: the challenge in recognizing radiation-induced events, JOURNAL OF RADIATION RESEARCH, 59, 201804
  166. ★, Exploration of genetic basis underlying individual differences in radiosensitivity within human populations using genome editing technology, JOURNAL OF RADIATION RESEARCH, 59, 201804
  167. Albatross/FBF1 contributes to both centriole duplication and centrosome separation, GENES TO CELLS, 23(12), 1023-1042, 201812
  168. Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders, CELLS, 9(1), 202001
  169. A novel CDK-independent function of p27(Kip1) in preciliary vesicle trafficking during ciliogenesis, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 527(3), 716-722, 202006
  170. Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome, EMBO JOURNAL, 39(12), 202006
  171. Familial rhabdomyosarcoma due to germline bi-allelic variants of BUB1B, Pediatr Blood Cancer, S69-S69, 2019
  172. Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation, AGING CELL, 19(11), 202011
  173. Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome, EMBO JOURNAL, 39(12), 202006

Publications such as books

  1. 2006/06, Nijmegen Breakage Syndrome and Functions of the Responsible Protein, NBS1. Volff J-N (ed): Genome and Disease. , Karger, 2006, 06, Scholarly Book, Joint work, 3805580290, 246

Invited Lecture, Oral Presentation, Poster Presentation

  1. Quantitative evaluation of the NBS1 I171V variant on radiosensitivity, Tomika K, Fujita K, Akutsu SN, Tauchi H, Yamamoto T, Kobayashi M, Kudo Y, Miyamoto T, Matsuura S, The 4th International Symposium of the Network-type Joint Usage/Research Center for Radiation Disaster Medical Science, 2020/02/12, Without Invitation, English
  2. Analysis of Individual Differences in Radiation Sensitivity, Shinya Matsuura, The Bilateral Workshop on the Radiation Medicine and Nuclear Emergency Preparedness between Hiroshima University and Soochow University 2019, 2019/12/02, Without Invitation, English
  3. Generation of Down syndrome iPS cells tagged with fluorescence marker in chromosome 21 using genome editing technology, Akutsu SN, Miyamoto T, Tomioka K, Ochiai H, Yamamoto T, Ohashi H, Matsuura S, 2019/11/06, Without Invitation, English
  4. The generation of mosaic trisomy 21 model cells using cells from a patient with full trisomy 21 by trisomy rescue during cell reprogramming and their modification with fluorescent nuclear markers by genome editing technique, Akutsu SN, Ochiai H, Yamamoto T, Ohashi H, Miyamoto T, Matsuura S, The 65th Brazilian Congress of Genetics (São Paulo), 2019/09/17, Without Invitation, other
  5. Analysis of somatic mutations induced by low-dose X-ray by using a hypersensitive system, Nagashima H, et al., The 3rd International Symposium of the Network-type Joint Usage/Research Center for Radiation Disaster Medical Science, 2019/01/13, Without Invitation, English
  6. Generation of NBS1 I171V knock-in mice using genome editing technology, Miyamoto T, et al., The 3rd International Symposium of the Network-type Joint Usage/Research Center for Radiation Disaster Medical Science, 2019/01/13, Without Invitation, English
  7. Unravelling the pathological mechanisms of structure-chromosomal instability post IR in PCS(MVA) syndrome., Akutsu SN, Miyamoto T, Matsuura S, The 7th International symposium of Phoenix Leader Education Program for Renaissance from Radiation Disaster, 2018/02/27, Without Invitation, English, Hiroshima
  8. Identification of ATM heterozygous mutations underlying individual differences in radiosensitivity using genome editing technology, Miyamoto T, Royba E, Akutsu SN, Hosoba K, Tauchi H, Kudo Y, Tashiro S, Yamamoto T, Matsuura S, 2017/11/16, Without Invitation, English
  9. Trial for correction of trisomy 21 in a Down syndrome patient-derived induced pluripotent stem cells, Silvia Natsuko Akutsu, Miyamoto T, Ochiai H, Suzuki K, Shimamoto A, Yamamoto T ,Shinya Matsuura, 2017/11/16, Without Invitation, English
  10. Inflammatory response to acute and chronic gamma irradiation in primary human endothelial cell, Elena Zaharieva, Hidehiko Kawai, Megumi Sasatani, Toshiya Inaba, Shinya Matsuura, Kenji Kamiya, 2017/10/25, Without Invitation, English
  11. PLK1-mediated phosphorylation of WDR62/MCPH2 is required for proper mitotic spindle orientation, Miyamoto T, Hosoba K, Silvia Natsuko Akutsu, Morino H, Fukumitsu A, Masatsuna Y, Kawakami H, Yamamoto T, Shimizu K, Ohashi H, Shinya Matsuura, 2017/09/29, Without Invitation, English, Yokohama
  12. Evaluation of ATM heterozygous mutations underlying individual differences in radiosensitivity using genome editing in human cultured cells, 2017/07/27, Without Invitation, English
  13. Inflammatory response in primary human endothelial cells subjected to acute or protracted gamma irradiation, Elena Zaharieva, Hidehiko Kawai, Toshiya Inaba, Shinya Matsuura, Kenji Kamiya, 2017/06/04, Without Invitation, English, Hiroshima
  14. Genetic characterization of a patient with a progeroid phenotype and mosaic variegated aneuploidy, Harumi Fujita, Takashi Sasaki, Tatsuo Miyamoto, Takehiko Mori, Kazuhiko Nakabayashi, Kenichiro Hata, Shinya Matsuura, Yoichi Matsubara, Masayuki Amagai, Akiharu Kubo, KEYSTONE SYMPOSIA MEETING, Aging and Mechanism of Aging-Related Disease, 2017/05/15, Without Invitation, English, Yokohama
  15. Analysis of individual differences in radiosensitivity using genome editing , Shinya Matsuura, Ekaterina Royba, Silvia Natsuko Akutsu, Hiromi Yanagihara, Hiroshi Ochiai, Yoshiki Kudo, Satoshi Tashiro, Tatsuo Miyamoto, 3rd International Symposium on the System of Radiological Protection, ICRP2015, 2015/10, With Invitation, English, International Commission of Radiological Protection, Seoul, Korea
  16. 1) Gene and function in microcephaly. 2) Mosaic Variegated Aneuploidy (Premature Chromatid Separation) Syndrome., Shinya Matsuura, 2010/10, With Invitation, English
  17. PCS (MVA) SYNDROME AND DUAL ROLES OF BUBR1, Shinya Matsuura, 25th RBC International Symposium “Genomic Instability: mechanisms and diseases”, 2009/11, With Invitation, English

External Funds

Acceptance Results of Competitive Funds

  1. Project for Baby and Infant in Research of healTH and Development to Adolescent and Young adult - BIRTHDAY, 2020/04/01, 2021/03/31
  2. Project for Baby and Infant in Research of healTH and Development to Adolescent and Young adult - BIRTHDAY , 2019/04/01, 2020/03/31
  3. KAKENHI(Grant-in-Aid for Challenging Research (Exploratory)), 2019, 2021
  4. KAKENHI(Grant-in-Aid for Scientific Research (B)), 2019, 2021
  5. Project for Baby and Infant in Research of healTH and Development to Adolescent and Young adult - BIRTHDAY , 2018/04/01, 2019/03/31
  6. Drug Discovery Support Promotion Project , 2018/04/01, 2019/03/31
  7. Drug Discovery Support Promotion Project , 2018/01/01, 2018/03/31
  8. The Center of World Intelligence Project for Nuclear S&T and Human Resource Development, 2016/04/01, 2017/03/31
  9. The Center of World Intelligence Project for Nuclear S&T and Human Resource Development, 2015/04/01, 2016/03/31
  10. KAKENHI, 2015, 2017
  11. KAKENHI, 2015, 2016
  12. KAKENHI, 2015, 2018
  13. The Initiatives for Atomic Energy Basic and Generic Strategic Research, 2014/09/30, 2015/03/31
  14. The Initiatives for Atomic Energy Basic and Generic Strategic Research, 2013/10/01, 2014/03/31
  15. KAKENHI, 2013, 2014
  16. KAKENHI, 2012, 2014
  17. KAKENHI, 2012, 2014
  18. KAKENHI, 2010, 2011
  19. KAKENHI, Epigenetic dysregulation in disorder with defective ATR signaling, 2010, 2011
  20. KAKENHI, 2008, 2009
  21. KAKENHI, 2008, 2009
  22. KAKENHI, Toward the identification of the genes for hereditary microcephaly, 2008, 2010
  23. KAKENHI, Molecular cloning of the gene on chromosome 8, which suppresses centrosome re-duplication, 2007, 2008
  24. KAKENHI, Effect of centrosome amplification/chromosome instability on the radiosensitivity in human glioma cells, 2007, 2009
  25. KAKENHI, Induction of DNA double strand break by environmental genotoxic and carcinogenic agents, 2006, 2010
  26. KAKENHI, 2006, 2007
  27. KAKENHI, Identification and characterization of centrosome re-duplication suppressor gene(s), 2005, 2006
  28. KAKENHI, 2004, 2004
  29. KAKENHI, 2004, 2004
  30. KAKENHI, 2003, 2003
  31. KAKENHI, 2003, 2003
  32. KAKENHI, Origin of radiation-induced genomic instability, 2002, 2005
  33. KAKENHI, Molecular cloning of the gene for cancer-prone syndrome characterized by abnormal mitotic spindle checkpoint., 2002, 2004
  34. KAKENHI, DNA double strand break repair by NBS1 complex., 2001, 2002
  35. KAKENHI, Cancersusceptibility disease Nijmegen Breakage Syndrome and the function of underlying gene., 2000, 2004
  36. KAKENHI, Molecular mechanism for chromosome stability using Nbs1 knockout mice, 2000, 2001
  37. KAKENHI, Role of NBS1 in Repair of DNA damage Induced by Ionizing Radiation, 2000, 2001
  38. KAKENHI, Generation of knockout mice for Nijmegen breakage syndrome gene, NBS1., 1999, 1999
  39. KAKENHI, 1998, 1998
  40. KAKENHI, Novel developments on genetic recombination : DNA double-strand break and DNA end-joining, 1998, 2003
  41. KAKENHI, Study on underlying gene of Nijmegen Breakage Syndrome, 1998, 2000
  42. KAKENHI, Complementation assisted positional cloning of the gene for AT variant., 1998, 1999
  43. KAKENHI, Development of (a human X-chromosome * hamster) hybrid cell assay system, which is sensitive to tritium exposure., 1997, 1998
  44. KAKENHI, 1997, 1997
  45. KAKENHI, Molecular mechanism of initiation of X inactivation using Xist YAC transgenic mouse, 1996, 1997
  46. KAKENHI, Molecular study on Nijmegen breakage sybdrome, 1996, 1997
  47. KAKENHI, Multi-functions of DNA-dependent protein kinase (DNA-PK) and the association of radiation sensitivity, 1996, 1997
  48. KAKENHI, Research and development of transgenic mouse for biological effect assesment of tritium, 1995, 1996

Social Activities

Organizing Academic Conferences, etc.

  1. 2011/07
  2. 2010/07
  3. 2009/07
  4. 2008/07
  5. 2007/07
  6. 2006/07
  7. 2005/07
  8. 2004/07