SHINYA MATSUURA

Last Updated :2024/10/01

Affiliations, Positions
Research Institute for Radiation Biology and Medicine, Professor
Web Site
https://genome2.hiroshima-u.ac.jp
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. 2024, Liberal Arts Education Program1, 2Term, War and Peace from the Viewpoint of Medicine
  2. 2024, Undergraduate Education, First Semester, Radiation Biology & Radiation Health Risk Sciences
  3. 2024, Undergraduate Education, First Semester, Human genetics
  4. 2024, Undergraduate Education, Intensive, Practice for medical research
  5. 2024, Graduate Education (Master's Program) , First Semester, Seminar
  6. 2024, Graduate Education (Master's Program) , Second Semester, Seminar
  7. 2024, Graduate Education (Master's Program) , First Semester, Research
  8. 2024, Graduate Education (Master's Program) , Second Semester, Research
  9. 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar
  10. 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar
  11. 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Research
  12. 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Research
  13. 2024, Graduate Education (Master's Program) , 1Term, Medical Ethics A
  14. 2024, Graduate Education (Doctoral Program) , 3Term, Medical Ethics B
  15. 2024, Graduate Education (Doctoral Program) , 1Term, Integrated Radiation Medical Science
  16. 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Genetics and Cell Biology
  17. 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Genetics and Cell Biology
  18. 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Genetics and Cell Biology
  19. 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Genetics and Cell Biology
  20. 2024, Graduate Education (Doctoral Program) , Second Semester, Introduction to Radiation Biology
  21. 2024, Graduate Education (Doctoral Program) , Second Semester, History of Hiroshima Restoration
  22. 2024, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science

Research Activities

Academic Papers

  1. iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes, PLOS ONE, 17(3), 20220310
    Link to Paper Search Results by DOI
  2. Cytoplasmic, but not nuclear, p16 expression may signal poor prognosis in high-grade astrocytomas, JOURNAL OF NEURO-ONCOLOGY, 77(3), 273-277, 200605
    Link to Paper Search Results by DOI
  3. 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
    Link to Paper Search Results by DOI
  4. TopBP1 associates with NBS1 and is involved in homologous recombination repair, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 362(4), 872-879, 20071103
    Link to Paper Search Results by DOI
  5. 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
    Link to Paper Search Results by DOI
  6. Efficient TALEN construction and evaluation methods for human cell and animal applications, GENES TO CELLS, 18(4), 315-326, 201304
    Link to Paper Search Results by DOI
  7. Repeating pattern of non-RVD variations in DNA-binding modules enhances TALEN activity, SCIENTIFIC REPORTS, 3, 20131129
    Link to Paper Search Results by DOI
  8. ★, 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
    Link to Paper Search Results by DOI
  9. 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
    Link to Paper Search Results by DOI
  10. ★, Xist expression from an Xist YAC transgene carried on the Mouse Y chromosome, Human molecular genetics, 5(4), 451-459, 19960401
  11. Investigation of the polymorphic Avall site by a PCR-based assay at the human CD18 gene locus., Human Genetics, 93, 721, 19940401
  12. Leukocyte Adhesion Deficiency : identification of novel mutations in two Japanese patients with a severe form, Biochem. Biophys. Res. Commun., 184, 1460-1467, 19920401
  13. ★, 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
  14. ★, Positional cloning of the gene for Nijmegen breakage syndrome, Nature genetics, 19(2), 179, 19980401
  15. 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
  16. Inverted insertion (9) (q34.3q22.3q21.2) and its recombination product: duplication 9q21.2q22.3., Jpn J Hum Genet, 3, 45-48, 19870401
  17. Radiographic measurements of metacarpophalangeal lengths in Japanese children., Jpn J Hum Genet, 34, 159-168, 19890401
  18. Nucleotide sequence of the human liver-type alkaline phosphatase cDNA., Nucl. Acids Res., 17, 2129-2129, 19890401
  19. ★, 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
  20. Isolation of a Y chromosomal DNA sequence and its clinical application., Jpn J Hum Genet, 35, 331-339, 19900401
  21. 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
  22. Prenatal diagnosis of infantile hypophosphatasia., Prenatal Diagnosis, 11, 305-309, 19910401
  23. Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2)., Am J Med Genet, 41, 225-229, 19910401
  24. Telomere association of human chromosomes induced by aphidicolin, Mutation Research, 269, 107-111, 19920401
  25. Y-derived sequence detected in minute chromosomes by polymerase chain reaction and in situ hybridization., Clin. Genet., 42, 80-83, 19920401
  26. Tricho-rhino-phalangeal syndrome type III., Am J Med Genet, 49, 349-350, 19940401
  27. The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11., Am.J.Hum.Genet., 58, 885-888, 19960401
  28. Inhibitory action of (-)-epigallocatechin gallate on radiation-induced mouse oncogenic transformation., Cancer lett., 112, 135-139, 19970401
  29. Estimation of Dose absorbed fraction for 131I-beta rays in rat thyroid., J. Radiat. Res., 39, 223-230, 19980401
  30. 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
  31. 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
  32. Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients., J. Hum. Genet., 44, 48-51, 19990401
  33. Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer., Oncogene, 18, 3422-3426, 19990401
  34. Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21, which contains the Nijmegen breakage syndrome, NBS1., Genomics, 55, 242-247, 19990401
  35. A polymorphic CA repeat marker at the human 27-kD calbindin (CALB1) locus., J. Hum. Genet., 44, 414-415, 19990401
  36. Neutron Generator (HIRRAC) and Dosimetry study., J. Rad. Res., 40, 14-20, 19990401
  37. Cell cycle and LET dependence for radiation-induced mutation: possible mechanism for reversed dose-rate effect., J. Rad. Res., 40, 45-52, 20000401
  38. Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability., Oncogene, 21, 8967-8980, 20020401
  39. Leukocyte adhesion molecules and immunodeficiency., 427-331, 19920401
  40. Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex, Advances in Biophysics, 38, 65-80, 20040401
  41. Nijmegen breakage syndrome, ARCHIVES OF DISEASE IN CHILDHOOD, 82(5), 400-406, 200005
    Link to Paper Search Results by DOI
  42. Absence of mutations in the NBS1 gene in B-cell malignant lymphoma patients, ANTICANCER RESEARCH, 20(3B), 1897-1900, 2000
    Link to Paper Search Results by DOI
  43. ★, 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
    Link to Paper Search Results by DOI
  44. Japanese family with an autosomal dominant chromosome instability syndrome: A new neurodegenerative disease?, AMERICAN JOURNAL OF MEDICAL GENETICS, 94(4), 265-270, 20001002
    Link to Paper Search Results by DOI
  45. 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
    Link to Paper Search Results by DOI
  46. 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
    Link to Paper Search Results by DOI
  47. Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl, AMERICAN JOURNAL OF MEDICAL GENETICS, 100(1), 9-12, 20010415
    Link to Paper Search Results by DOI
  48. 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
    Link to Paper Search Results by DOI
  49. Nbs1 is essential for DNA repair by homologous recombination in higher vertebrate cells, NATURE, 420(6911), 93-98, 20021107
    Link to Paper Search Results by DOI
  50. NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain, CURRENT BIOLOGY, 12(21), 1846-1851, 20021029
    Link to Paper Search Results by DOI
  51. Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability, ONCOGENE, 21(58), 8967-8980, 20021216
    Link to Paper Search Results by DOI
  52. p16 gene transfer increases cell killing with abnormal nucleation after ionising radiation in glioma cells, BRITISH JOURNAL OF CANCER, 89(9), 1802-1811, 20031103
    Link to Paper Search Results by DOI
  53. NBS1 and its functional role in the DNA damage response, DNA REPAIR, 3(8-9), 855-861, 2004
    Link to Paper Search Results by DOI
  54. The Nijmegen breakage syndrome gene and its role in genome stability, CHROMOSOMA, 113(2), 53-61, 200409
    Link to Paper Search Results by DOI
  55. R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients, JOURNAL OF HUMAN GENETICS, 50(7), 353-356, 200507
    Link to Paper Search Results by DOI
  56. ★, 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
    Link to Paper Search Results by DOI
  57. Centrosome amplification induced by survivin suppression enhances both chromosome instability and radiosensitivity in glioma cells, BRITISH JOURNAL OF CANCER, 98(2), 345-355, 20080122
    Link to Paper Search Results by DOI
  58. Absence of Ku70 gene obliterates X-ray-induced lacZ mutagenesis of small deletions in mouse tissues, RADIATION RESEARCH, 170(2), 216-223, 200808
    Link to Paper Search Results by DOI
  59. Combined BubR1 protein down-regulation and RASSF1A hypermethylation in Wilms tumors with diverse cytogenetic changes, MOLECULAR CARCINOGENESIS, 47(9), 660-666, 200809
    Link to Paper Search Results by DOI
  60. NBS1 prevents chromatid-type aberrations through ATM-dependent interactions with SMC1, RADIATION RESEARCH, 170(3), 345-352, 200809
    Link to Paper Search Results by DOI
  61. NBS1 regulates a novel apoptotic pathway through Bax activation, DNA REPAIR, 7(10), 1705-1716, 20081001
    Link to Paper Search Results by DOI
  62. Histone H2AX participates the DNA damage-induced ATM activation through interaction with NBS1, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 380(4), 752-757, 20090320
    Link to Paper Search Results by DOI
  63. ★, BubR1 localizes to centrosomes and suppresses centrosome amplification via regulating Plk1 activity in interphase cells, ONCOGENE, 28(31), 2806-2820, 200908
    Link to Paper Search Results by DOI
  64. Sporadic neonatal Fanconi's anemia with VACTERL association, PEDIATRICS INTERNATIONAL, 52(1), 141-142, 201002
    Link to Paper Search Results by DOI
  65. Mutations of optineurin in amyotrophic lateral sclerosis, NATURE, 465(7295), 223-U109, 20100513
    Link to Paper Search Results by DOI
  66. 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
    Link to Paper Search Results by DOI
  67. WRN participates in translesion synthesis pathway through interaction with NBS1, MECHANISMS OF AGEING AND DEVELOPMENT, 131(6), 436-444, 201006
    Link to Paper Search Results by DOI
  68. Two unrelated patients with MRE1 1A mutations and Nijmegen breakage syndrome-like severe microcephaly, DNA REPAIR, 10(3), 314-321, 20110307
    Link to Paper Search Results by DOI
  69. ★, Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates, HUMAN MOLECULAR GENETICS, 20(10), 2058-2070, 20110515
    Link to Paper Search Results by DOI
  70. NBS1 Recruits RAD18 via a RAD6-like Domain and Regulates Pol eta-Dependent Translesion DNA Synthesis, MOLECULAR CELL, 43(5), 788-797, 20110902
    Link to Paper Search Results by DOI
  71. Nucleolin Participates in DNA Double-Strand Break-Induced Damage Response through MDC1-Dependent Pathway, PLOS ONE, 7(11), 20121107
    Link to Paper Search Results by DOI
  72. ★, 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
    Link to Paper Search Results by DOI
  73. YAP is essential for tissue tension to ensure vertebrate 3D body shape, NATURE, 521(7551), 217-+, 20150514
    Link to Paper Search Results by DOI
  74. Ciliopathy in PCS (MVA) syndrome, ONCOTARGET, 6(28), 24582-24583, 2015
    Link to Paper Search Results by DOI
  75. Obituary: a eulogy to the late Professor Tadashi Kajii (1929-2016), JOURNAL OF HUMAN GENETICS, 61(8), 677-677, 2016
  76. Wilms tumor accompanied by premature chromatid separation, PEDIATRIC BLOOD & CANCER, 64(3), 2017
  77. Cloning of the NBS1 geng for Nijmegen breakage syndrome, 21, 19981201
  78. Nijmegen breakage syndrome : Analysis of an 800-kb genomic sequence, 21, 19981201
  79. 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
  80. Proton W-value calculation using a developped proton track structure code, 57, 182-185, 19980918
  81. Enhanced mutation of HPRT locus by ionizing radiation in combination with high gravity., Biological sciences in space, 14(3), 224-224, 200010
  82. Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients, Journal of Human Genetics, 44(1), 48-51, 19990101
  83. A polymorphic CA repeat marker at the human 27-kD calbindin (CALB1) locus, 44(6), 414-415, 19991101
  84. 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
  85. Sporadic neonatal Fanconi's anemia with VACTERL association, Pediatrics international : official journal of the Japan Pediatric Society, 52(1), 141-142, 20100201
  86. Activation of ATM kinase in NBS lymphoblastoid cells, Nagasaki Igakkai zasshi = Nagasaki medical journal, 75, 281-284, 200009
  87. A new chromosomal instability syndrome with defective mitotic-spindle checkpoints, Nagasaki Igakkai zasshi = Nagasaki medical journal, 75, 297-299, 200009
  88. Neutron Generator (HIRRAC) and Dosimetry Study :, Journal of radiation research, 40(0), 14-20, 1999
  89. 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
  90. NBS1 is involved in recognition of DNA damage and initiation of homologous recombination., Journal of radiation research, 43(4), 200212
  91. Dissociation of ATM/NBS1 functions in telomere maintenance, Journal of radiation research, 43(4), 200212
  92. Histone H2AX regulates the formation of NBS1 foci on DNA damage sites, Journal of radiation research, 43(4), 200212
  93. Analysis of the function of NBS1 in DNA double-strand break repair, Journal of radiation research, 43(4), 200212
  94. Mutation screening for a novel cancer-predisposition syndrome of total PCS, Journal of radiation research, 43(4), 200212
  95. Reversed dose-rate effect of high LET radiation in mutation induction, Journal of radiation research, 42(4), 200112
  96. The function of NBS1 and histone H2AX in the early process of DNA repair., Journal of radiation research, 42(4), 200112
  97. Association of DNA repair protein NBS1 with telomere maintenance, Journal of radiation research, 42(4), 200112
  98. Association of cells from Fanconi anemia patients with radiation sensitivity, Journal of radiation research, 42(4), 200112
  99. Establishement of mouse Nbs1-deficient cell lines by gene targeting, Journal of radiation research, 42(4), 200112
  100. Complementation studies of immortalized cell lines from infants with total PCS, Journal of radiation research, 42(4), 200112
  101. Somatic Mutation Caused by Low Dose Rate Tritium Radiation : Studies Using A Hyper-sensitive DetectionSystem, Journal of radiation research, 42(4), 200112
  102. Bystander mutagenic effect of alpha particle in human-hamster hybrid cells, Journal of radiation research, 42(4), 200112
  103. Inhibition of radiation-induced oncogenic transformation in C3H10T1/2 cells by green tea component, (-)-epigallocatechin gal late., Journal of radiation research, 36(4), 199512
  104. 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
  105. Genetic heterogeneity of ataxia-telangiectasia-like hamster mutant irs2 with Nijmegen breakage syndrome., Journal of radiation research, 36(4), 199512
  106. DNA-dependent protein kinase restores mouse scid mutation, Journal of radiation research, 36(4), 199512
  107. Genetic heterogeneity of ataxia-telangiectasia-like hamster mutant irs2 with Nijmegen breakage syndrome, Journal of radiation research, 37(4), 199612
  108. Radiation-induced HPRT mutation of a radiation sensitive hamster cell line irs1SF, Journal of radiation research, 37(4), 199612
  109. The Genetic Homogeneity of Nijmegen Breakage Syndrome V1 and V2., Journal of radiation research, 37(4), 199612
  110. 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
  111. Complementation Assay between Radiation-Sensitive irs2 Mutant and Ataxia-Telangiectasia Cell, Journal of radiation research, 38(4), 199712
  112. Haplotype Analysis of Nijmegen Breakage Syndrome and Construction of Physical Map of Candidate Region., Journal of radiation research, 38(4), 199712
  113. Genetic Mapping of Nijmegen Breakage Syndrome using Functional Complementation Assays and Homozygosity Mapping, Journal of radiation research, 38(4), 199712
  114. Mutation Analysis of the Fanconi Anemia Genes in Japanese Patients, Journal of radiation research, 38(4), 199712
  115. LET, cell cycle dependence for mutation induction and spectrum in HPRT locus, Journal of radiation research, 40(4), 199912
  116. 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
  117. Mapping of the underlying gene for rare genetic complementation group Fanconi anemia, Journal of radiation research, 40(4), 199912
  118. Functionally important domain analysis of the Nijimegen breakage syndrome gene. NBS1, Journal of radiation research, 40(4), 199912
  119. Mutation screening of the NBS1 gene in sporadic malignant lymphoma, Journal of radiation research, 40(4), 199912
  120. NBS1 Regulates Apoptosis induced by ɤ-irradiation in Lymphoblastoid, Journal of radiation research, 40(4), 199912
  121. Function of NBS1 in Activation of ATM kinase in Response to IR., Journal of radiation research, 41(4), 200012
  122. Construction of Nbs1 knockout cell line using chicken DT40, Journal of radiation research, 41(4), 200012
  123. Accelerated telomere shortening by disruption of DNA repair protein NBS1, Journal of radiation research, 41(4), 200012
  124. NBS1, the Nijmegen breakage syndrome protein, regulates the localization of DNA repair complex hRAD50/hMRE11/NBS1, Journal of radiation research, 41(4), 200012
  125. Screening of protein interacting with FANCG by Yeast two-hybrid system, Journal of radiation research, 41(4), 200012
  126. 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
  127. Positional cloning of the gene for Nijmegen breakage syndrome, Journal of radiation research, 39(4), 199812
  128. Nijmegen breakage syndrome : Sequence analysis of an 800-kb genomic region on chromosome 8q21., Journal of radiation research, 39(4), 199812
  129. The relationship between NBS1 and cell death induced by ɤ-ray irradiation in lymphoblastoid, Journal of radiation research, 39(4), 199812
  130. Mutation Analysis of the Fanconi Anemia Gene FAA in Japanese patients, Journal of radiation research, 39(4), 199812
  131. Radiation-induced teratogenicity and embryo lethality in the scid mice., Journal of radiation research, 39(4), 199812
  132. 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
  133. 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
  134. 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
  135. 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
  136. 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
  137. 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
  138. 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
  139. WRN participates in translesion synthesis pathway through interaction with NBS1., Mechanisms of ageing and development, 131(6), 436-444, 201006
  140. Nucleolin Participates in DNA Double-Strand Break-Induced Damage Response through MDC1-Dependent Pathway., PloS one, 7(11), 20121107
  141. Repeating pattern of non-RVD variations in DNA-binding modules enhances TALEN activity., Scientific reports, 3, 20131129
  142. NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain., Current biology : CB, 12(21), 2002
  143. 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
  144. Cell cycle abnormalities in patients with Pericentrin-Seckel syndrome, The Japan Radiation Research Society Annual Meeting Abstracts, 2009(0), 93-93, 2009
  145. NBS1 and its functional role in the DNA damage response., DNA repair, 3(8-9)
  146. Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex., Advances in biophysics, 38(Complete), 65-80, 2004
  147. R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients., Journal of human genetics, 50(7), 353-356, 2005
  148. 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
  149. Cytoplasmic, but not nuclear, p16 expression may signal poor prognosis in high-grade astrocytomas., Journal of neuro-oncology, 77(3), 273-277, 2006
  150. [Smith-Lemli-Opitz syndrome]., Nihon rinsho. Japanese journal of clinical medicine, Suppl 3, 488-491, 2006
  151. TopBP1 associates with NBS1 and is involved in homologous recombination repair., Biochemical and biophysical research communications, 362(4), 872-879, 2007
  152. Cancer predisposition and ciliopathy caused by loss of BUBR1, a mitotic spindle checkpoint regulator, 65(4), 308-310, 201204
  153. Identification of mutation causing cancer-prone hereditary disease using a novel method for the introduction of single-nucleotide substitution, 252(2), 153-158, 20150110
  154. 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
  155. YAP is essential for tissue tension to ensure vertebrate 3D body shape, NATURE, 521(7551), 217-+, 2015
  156. Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly., DNA repair, 10(3), 2011
  157. 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
  158. The Microtubule-Depolymerizing Activity of a Mitotic Kinesin Protein KIF2A Drives Primary Cilia Disassembly Coupled with Cell Proliferation., Cell reports, 2015
  159. Efficient TALEN construction and evaluation methods for human cell and animal applications., Genes to cells : devoted to molecular & cellular mechanisms, 18(4), 2013
  160. Ciliopathy in PCS (MVA) syndrome., Oncotarget, 6(28), 2015
  161. Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates., Human molecular genetics, 20(10), 2011
  162. Repeating pattern of non-RVD variations in DNA-binding modules enhances TALEN activity., Scientific reports, 3, 2013
  163. ★, Evaluation of ATM heterozygous mutations underlying individual differences in radiosensitivity using genome editing in human cultured cells, SCIENTIFIC REPORTS, 7, 20170720
    Link to Paper Search Results by DOI
  164. ★, PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation, HUMAN MOLECULAR GENETICS, 26(22), 4429-4440, 20171115
    Link to Paper Search Results by DOI
  165. Updated summary of genome editing technology in human cultured cells linked to human genetics studies, JOURNAL OF HUMAN GENETICS, 63(2), 133-143, 201802
    Link to Paper Search Results by DOI
  166. Induction of somatic mutations by low-dose X-rays: the challenge in recognizing radiation-induced events, JOURNAL OF RADIATION RESEARCH, 59, 201804
    Link to Paper Search Results by DOI
  167. ★, Exploration of genetic basis underlying individual differences in radiosensitivity within human populations using genome editing technology, JOURNAL OF RADIATION RESEARCH, 59, 201804
    Link to Paper Search Results by DOI
  168. Albatross/FBF1 contributes to both centriole duplication and centrosome separation, GENES TO CELLS, 23(12), 1023-1042, 201812
    Link to Paper Search Results by DOI
  169. Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders, CELLS, 9(1), 202001
    Link to Paper Search Results by DOI
  170. A novel CDK-independent function of p27(Kip1) in preciliary vesicle trafficking during ciliogenesis, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 527(3), 716-722, 202006
    Link to Paper Search Results by DOI
  171. Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome, EMBO JOURNAL, 39(12), 202006
  172. Familial rhabdomyosarcoma due to germline bi-allelic variants of BUB1B, Pediatr Blood Cancer, S69-S69, 2019
  173. Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation, AGING CELL, 19(11), 202011
    Link to Paper Search Results by DOI
  174. Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome, EMBO JOURNAL, 39(12), 202006
    Link to Paper Search Results by DOI
  175. NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations, SCIENTIFIC REPORTS, 11(1), 20211004
    Link to Paper Search Results by DOI

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
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  11. KAKENHI, 2015, 2016
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  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
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  16. KAKENHI, 2012, 2014
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  17. KAKENHI, 2012, 2014
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  18. KAKENHI, 2010, 2011
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  19. KAKENHI, Epigenetic dysregulation in disorder with defective ATR signaling, 2010, 2011
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  20. KAKENHI, 2008, 2009
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  21. KAKENHI, 2008, 2009
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  22. KAKENHI, Toward the identification of the genes for hereditary microcephaly, 2008, 2010
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  23. KAKENHI, Molecular cloning of the gene on chromosome 8, which suppresses centrosome re-duplication, 2007, 2008
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  24. KAKENHI, Effect of centrosome amplification/chromosome instability on the radiosensitivity in human glioma cells, 2007, 2009
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  25. KAKENHI, Induction of DNA double strand break by environmental genotoxic and carcinogenic agents, 2006, 2010
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  26. KAKENHI, 2006, 2007
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  27. KAKENHI, Identification and characterization of centrosome re-duplication suppressor gene(s), 2005, 2006
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  28. KAKENHI, 2004, 2004
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  29. KAKENHI, 2004, 2004
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  30. KAKENHI, 2003, 2003
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  31. KAKENHI, 2003, 2003
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  32. KAKENHI, Origin of radiation-induced genomic instability, 2002, 2005
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  33. KAKENHI, Molecular cloning of the gene for cancer-prone syndrome characterized by abnormal mitotic spindle checkpoint., 2002, 2004
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  34. KAKENHI, DNA double strand break repair by NBS1 complex., 2001, 2002
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  35. KAKENHI, Cancersusceptibility disease Nijmegen Breakage Syndrome and the function of underlying gene., 2000, 2004
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  36. KAKENHI, Molecular mechanism for chromosome stability using Nbs1 knockout mice, 2000, 2001
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  37. KAKENHI, Role of NBS1 in Repair of DNA damage Induced by Ionizing Radiation, 2000, 2001
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  38. KAKENHI, Generation of knockout mice for Nijmegen breakage syndrome gene, NBS1., 1999, 1999
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  39. KAKENHI, 1998, 1998
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  40. KAKENHI, Novel developments on genetic recombination : DNA double-strand break and DNA end-joining, 1998, 2003
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  41. KAKENHI, Study on underlying gene of Nijmegen Breakage Syndrome, 1998, 2000
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  42. KAKENHI, Complementation assisted positional cloning of the gene for AT variant., 1998, 1999
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  43. KAKENHI, Development of (a human X-chromosome * hamster) hybrid cell assay system, which is sensitive to tritium exposure., 1997, 1998
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  44. KAKENHI, 1997, 1997
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  45. KAKENHI, Molecular mechanism of initiation of X inactivation using Xist YAC transgenic mouse, 1996, 1997
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  46. KAKENHI, Molecular study on Nijmegen breakage sybdrome, 1996, 1997
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  47. KAKENHI, Multi-functions of DNA-dependent protein kinase (DNA-PK) and the association of radiation sensitivity, 1996, 1997
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  48. KAKENHI, Research and development of transgenic mouse for biological effect assesment of tritium, 1995, 1996
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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