研究業績

Akutsu SN, Miyamoto T, Oba D, Tomioka K, Ochiai H, Ohashi H, Matsuura S. iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes. PLOS ONE doi: 10.1371/journal.pone.0264965.(2022)
Miyamoto T, Hosoba K, Akutsu SN, Matsuura S. Imaging of the Ciliary Cholesterol Underlying the Sonic Hedgehog Signal Transduction. Methods Mol Biol 2374, 49-57 (2022)
Tomioka K, Miyamoto T, Akutsu SN, Yanagihara H, Fujita K, Royba E, Tauchi H, Yamamoto T, Koh I, Hirata E, Kudo Y, Kobayashi M, Okada S, Matsuura S. NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations. Sci Rep 11(1), 19661 (2021)
Fujita H, Sasaki T, Miyamoto T, Akutsu SN, Sato S, Mori T, Nakabayashi K, Hata K, Suzuki H, Kosaki K, Matsuura S, Matsubara Y, Amagai M, Kubo A. Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation. Aging Cell 19, e13251 (2020)
Miyamoto M, Hosoba K, Itabashi T, Iwane AH, Akutsu SN, Ochiai H, Saito Y, Yamamoto T, Matsuura S. Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome. EMBO J 39(12):e103499. doi: 10.15252/embj.2019103499.(2020)
Akutsu SN, Fujita K, Tomioka K, Miyamoto T, Matsuura S. Applications of genome editing technology in research on chromosome aneuploidy disorders. Cells 9(1). pii: E239. doi: 10.3390/cells9010239.(2020)
Yukimoto H, Miyamoto T, Kiyono T, Wang S, Matsuura S, Mizoguchi A, Katayama N, Inagaki M, Kasahara K. A novel CDK-independent function of p27Kip1 in preciliary vesicle trafficking during ciliogenesis. Biochem Biophys Res Commun 527 (3), 716-722 (2020)
Yoshida K, Yamaoka S, Yoshida M, Nakabayashi K, Shirai R, Osumi T, Kiyotani C, Akutsu SN, Miyamoto T, Hata K, Kiyokawa N, Yoza Y, Matsumoto K, Matsuura S, Kato M.　Familial rhabdomyosarcoma due to germline bi-allelic variants of BUB1B. Pediatr Blood Cancer 66: e28049. doi: 10.1002/pbc.28049.(2019)
Inoko A, Yano T, Miyamoto T, Matsuura S, Kiyono T, Goshima N, Inagaki M, Hayashi Y.　Albatross/FBF1 contributes to both centriole duplication and centrosome separation. Genes Cells 23(12):1023-1042. doi: 10.1111/gtc.12648.(2018)
Miyamoto T, Akustsu SN, Tauchi H, Kudo Y, Tashiro S, Yamamoto T, Matsuura S.　Exploration of genetic basis underlying individual differences in radiosensitivity within human populations using genome editing technology. J Radiat Res. 59(suppl_2): ii75-ii82. doi: 10.1093/jrr/rry007.(2018)
Miyamoto T, Akutsu SN, Matsuura S. Updated summary of genome editing technology in human cultured cells linked to human genetics studies J Hum Genet. 63(2):133-143(2018)
Miyamoto T#, Akutsu SN#, Fukumitsu A, Morino H, Masatsuna Y, Hosoba K, Kawakami H, Yamamoto T, Shimizu K, Ohashi H, Matsuura S. PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation. Hum Mol Genet 26(22):4429-4440, (2017)
Royba E, Miyamoto T, Akutsu SN, Hosoba K, Tauchi H, Kudo Y, Tashiro S, Yamamoto T, Matsuura S. Evaluation of ATM heterozygous mutations underlying individual differences in radiosensitivity using genome editing in human cultured cells. Sci Rep 7(1):5996,(2017)
Nagashima H, Shiraishi K, Ohkawa S, Sakamoto Y, Komatsu K, Matsuura S, Tachibana A, Tauchi H. Induction of somatic mutations by low-dose X-rays: the challenge in recognizing radiation-induced events. J Radiat Res. 19:1-7. doi: 10.1093/jrr/rrx053.(2017)
Shimada K, Yanagisawa R, Kubota N, Hidaka E, Sakashita K, Ishii E, Matsuura S, Ogiso Y. Wilms tumor accompanied by premature chromatid separation. Pediatr Blood Cancer 64: e26255 (2017)
Tomoshige S, Kobayashi Y, Hosoba K, Hamamoto A, Miyamoto T, Saito Y. Cytoskelton-related regulation of primary cilia shortening mediated by melanin-concentrating hormone receptor 1. Gen Comp Endocrinol 253: 44-52 (2017)
Matsuura S, Royba E, Akutsu SN, Yanagihara H, Ochiai H, Kudo Y, Tashiro S, Miyamoto T. Analysis of individual differences in radiosensitivity using genome editing. Ann ICRP 45: 290-296 (2016)
Sasaki T, Hanisch FG, Deutzmann R, Sakai LY, Sakuma T, Miyamoto T, Yamamoto T, Hannappel E, Chu ML, Lanig H, von der Mark K. Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. Matrix Biol. 56:132-149, (2016)
Porazinski S#, Wang H#, Asaoka Y#, Behrndt M#, Miyamoto T#, Morita H, Hata S, Sasaki T, Krens SF, Osada Y, Asaka S, Momoi A, Linton S, Miesfeld JB, Link BA, Senga T, Castillo-Morales A, Urrutia AO, Shimizu N, Nagase H, Matsuura S, Bagby S, Kondoh H, Nishina H, Heisenberg CP, Furutani-Seiki M. YAP is essential for tissue tension to ensure vertebrate 3D body shape. Nature, 521(7551):217-221, (2015)
Miyamoto T, Hosoba K, Ochiai H, Royba E, Izumi H, Sakuma T, Yamamoto T, Dynlacht BD, Matsuura S. The microtubule-depolymerizing activity of a mitotic kinesin protein KIF2A drives primary cilia disassembly coupled with cell proliferation. Cell Reports 10:664-673 (2015)
Miyamoto T, Matsuura S. Ciliopathy in PCS (MVA) syndrome. Oncotarget 6(28):24582-3, (2015)
Ochiai H, Miyamoto T, Hosoba K, Sakuma T, Kudo Y, Asami K, Ogawa A, Watanabe A, Kajii T, Yamamoto T, Matsuura S. TALEN-mediated single-base editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome. Proc Natl Acad Sci USA111：1461-1466, (2014)
Sakuma T, Ochiai H, Kaneko T, Mashimo T, Tokumasu D, Sakane Y, Suzuki K, Miyamoto T, Sakamoto N, Matsuura S, Yamamoto T. Repeating pattern of non-RVD variations in DNA-binding modules enhances TALEN activity. Sci Rep3: 3379, (2013)
Sakuma T, Hosoi S, Woltjen K, Suzuki K, Kashiwagi K, Wada H, Ochiai H, Miyamoto T, Kawai N, Sasakura Y, Matsuura S, Okada Y, Kawahara A, Hayashi S, Yamamoto T. Efficient TALEN construction and evaluation methods for human cell and animal applications. Genes Cells18, 315-326 (2013)
落合博、佐久間哲史、松浦伸也、山本卓．TALE nuclease (TALEN) を用いた培養細胞におけるゲノム編集　実験医学　31, 95-100（2013）
Kobayashi J, Fujimoto H, Sato J, Hayashi I, Burma S, Matsuura S, Chen DJ, Komatsu K. Nucleolin Participates in DNA Double-Strand Break-Induced Damage Response through MDC1-Dependent Pathway. PLoS One7 (11): e49245 (2012)
Ochiai H, Sakamoto N, Fujita K, Nishikawa M, Suzuki K, Matsuura S, Miyamoto T, Sakuma T, Shibata T, Yamamoto T. Zinc-finger nuclease-mediated targeted insertion of reporter genes for quantitative imaging of gene expression in sea urchin embryos. Proc Natl Acad Sci USA 109, 10915-10920 (2012)
Miyamoto T, Porazinski S, Wang H, Boravina A, Ciruna B, Shimizu A, Kajii T, Kikuchi A, Furutani-Seiki M, Matsuura S. Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates. Hum Mol Genet 20, 2058-2070 (2011).
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. Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. DNA Repair (Amst) 10, 314-321 (2011).
Yanagihara H, Kobayashi J, Tateishi S, Kato A, Matsuura S, Tauchi H, Yamada K, Takezawa J, Sugasawa K, Masutani C, Hanaoka F, Weemaes CM, Mori T, Zou L, Komatsu K. NBS1 recruits RAD18 via a RAD6-like domain and regulates Pol η-dependent translesion DNA synthesis. Mol Cell 43: 788-789 (2011)
Kobayashi J, Okui M, Asaithamby A, Burma S, Chen BP, Tanimoto K, Matsuura S, Komatsu K, Chen DJ. WRN participates in translesion synthesis pathway through interaction with NBS1. Mech Ageing Dev 131, 436-444 (2010).
Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465, 223-226 (2010).
Fujita K, Takechi E, Sakamoto N, Sumiyoshi N, Izumi S, Miyamoto T, Matsuura S, Tsurugaya T, Akasaka K, Yamamoto T. HpSulf, a heparan sulfate 6-O-endosulfatase, is involved in the regulation of VEGF signaling during sea urchin development. Mech Dev 127, 235-245 (2010).
Kanemoto N, Fukushima T, Imoto N, Koike K, Kanemoto K, Matsuura S. Sporadic neonatal Fanconi's anemia with VACTERL association. Pediatr Int 52,141-142 (2010).
Izumi H, Matsumoto Y, Ikeuchi T, Saya H, Kajii T, Matsuura S. BubR1 localizes to centrosomes and suppresses centrosome amplification via regulating Plk1 activity in interphase cells. Oncogene 28, 2806-2820 (2009).
Kobayashi J, Tauchi H, Chen B, Burma S, Tashiro S, Matsuura S, Tanimoto K, Chen DJ, Komatsu K. Histone H2AX participates the DNA damage-induced ATM activation through interaction with NBS1. Biochem Biophys Res Commun 380, 752-757 (2009).
宮本達雄、松浦伸也．遺伝性小頭症におけるDNA損傷シグナル経路の破綻．放射線生物研究　44, 330-342 (2009).
松浦伸也．日本人が発見に関わった疾患遺伝子．Njimegen症候群．小児科　50, 953-957 (2009).
松浦伸也．セッケル症候群．小児科診療　72, 85-85 (2009).
Izumi, H. and Matsuura, S. The cancer prone PCS syndrome: relationship between chromosome dynamics aberration and centrosome amplification. Chromosome Science 11, 25-28 (2008).
Antoccia A, Sakamoto S, Matsuura S, Tauchi H, Komatsu K. NBS1 prevents chromatid-type aberrations through ATM-dependent interactions with SMC1. Radiat Res 170, 345-352 (2008).
Uehara Y, Ikehata H, Komura J, Ito A, Ogata M, Itoh T, Hirayama R, Furusawa Y, Ando K, Paunesku T, Woloschak GE, Komatsu K, Matsuura S, Ikura T, Kamiya K, Ono T. Absence of Ku70 gene obliterates X-ray-induced lacZ mutagenesis of small deletions in mouse tissues. Radiat Res 170, 216-223 (2008).
Iijima K, Muranaka C, Kobayashi J, Sakamoto S, Komatsu K, Matsuura S, Kubota N, Tauchi H. NBS1 regulates a novel apoptotic pathway through Bax activation. DNA Repair (Amst) 7, 1705-1716 (2008).
Haruta M, Matsumoto Y, Izumi H, Watanabe N, Fukuzawa M, Matsuura S, Kaneko Y. Combined BubR1 protein down-regulation and RASSF1A hypermethylation in Wilms tumors with diverse cytogenetic changes. Mol Carcinog 47, 660-666 (2008).
Saito T, Hama S, Izumi H, Yamasaki F, Kajiwara Y, Matsuura S, Morishima K, Hidaka T, Shrestha P, Sugiyama K, Kurisu K. Centrosome amplification induced by survivin suppression enhances both chromosome instability and radiosensitivity in glioma cells. Br J Cancer 98, 345-355 (2008).
Morishima K, Sakamoto S, Kobayashi J, Izumi H, Suda T, Matsumoto Y, Tauchi H, Ide H, Komatsu K, Matsuura S. TopBP1 associates with NBS1 and is involved in homologous recombination repair. Biochem Biophys Res Commun 362, 872-879 (2007).
Sakamoto S, Iijima K, Mochizuki D, Nakamura K, Teshigawara K, Kobayashi J, Matsuura S, Tauchi H, Komatsu K. Homologous recombination repair is regulated by domains at the N- and C-terminus of NBS1 and is dissociated with ATM functions. Oncogene 26, 6002-6009 (2007).
松浦伸也、泉秀樹、池内達郎、梶井正．PCS（MVA）症候群 - 染色体数の不安定性が癌の原因であることを実証した疾患 - 　実験医学　25, 2925-2931 (2007).
松浦伸也、森島賢一、泉秀樹．ATRによるDNA損傷シグナルと疾患．ゲノム医学　7, 11-16 (2007).
Matsuura S, Matsumoto Y, Morishima K, Izumi H, Matsumoto H, Ito E, Tsutsui K, Kobayashi J, Tauchi H, Kajiwara Y, Hama S, Kurisu K, Tahara H, Oshimura M, Komatsu K, Ikeuchi T, Kajii T. Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome. Am J Med Genet A 140, 358-367 (2006).
Arifin MT, Hama S, Kajiwara Y, Sugiyama K, Saito T, Matsuura S, Yamasaki F, Arita K, Kurisu K. Cytoplasmic, but not nuclear, p16 expression may signal poor prognosis in high-grade astrocytomas. J Neurooncol 77, 273-277 (2006).
Antoccia A, Kobayashi J, Tauchi H, Matsuura S, Komatsu K. Nijmegen breakage syndrome and functions of the responsible protein, NBS1. Genome Dyn 1, 191-205 (2006)
松本浩、塚原正人、松浦伸也．性機能低下を伴う遺伝性症候群「Smith-Lemli-Opitz症候群」．日本臨床 別冊内分泌症候群III　488-491 (2006).
Matsumoto Y, Morishima K, Honda A, Watabe S, Yamamoto M, Hara M, Hasui M, Saito C, Takayanagi T, Yamanaka T, Saito N, Kudo H, Okamoto N, Tsukahara M, Matsuura S. R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. J Hum Genet 50, 353-356 (2005).
Matsuura S, Kobayashi J, Tauchi H, Komatsu K. Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex. Adv Biophys 38, 65-80 (2004).
Kobayashi J, Antoccia A, Tauchi H, Matsuura S, Komatsu K. NBS1 and its functional role in the DNA damage response. DNA Repair (Amst) 3, 855-861 (2004).
Iijima K, Komatsu K, Matsuura S, Tauchi H. The Nijmegen breakage syndrome gene and its role in genome stability. Chromosoma 113, 53-61 (2004).
松浦伸也、池内達郎、梶井正．各種疾患における染色体異常と発がん：染色分体早期解離症候群(PCS症候群)．医学のあゆみ　10, 870-874 (2004).
Hama S, Matsuura S, Tauchi H, Yamasaki F, Kajiwara Y, Arita K, Yoshioka H, Heike Y, Mandai K, Kurisu K. p16 Gene transfer increases cell killing with abnormal nucleation after ionising radiation in glioma cells. Br J Cancer 89, 1802-1811 (2003).
Tauchi H, Kobayashi J, Morishima K, van Gent DC, Shiraishi T, Verkaik NS, vanHeems D, Ito E, Nakamura A, Sonoda E, Takata M, Takeda S, Matsuura S, Komatsu K. Nbs1 is essential for DNA repair by homologous recombination in higher vertebrate cells. Nature 420, 93-98 (2002).
Kobayashi J, Tauchi H, Sakamoto S, Nakamura A, Morishima K, Matsuura S, Kobayashi T, Tamai K, Tanimoto K, Komatsu K. NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain. Curr Biol 12, 1846-1851 (2002).
Tauchi H, Matsuura S, Kobayashi J, Sakamoto S, Komatsu K. Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability. Oncogene 21, 8967-8980 (2002).
Yamada M, Matsuura S, Tsukahara M, Ebe K, Ohtsu M, Furuta H, Kobayashi I, Kawamura N, Okano M, Shouji R, Kobayashi K. Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl. Am J Med Genet 100, 9-12 (2001).
Ubagai T, Matsuura S, Tauchi H, Itou K, Komatsu K. Comparative genomic hybridization analysis suggests a gain of chromosome 7p associated with lymph node metastasis in non-small cell lung cancer. Oncol Rep 8, 83-88 (2001).
Tauchi H, Kobayashi J, Morishima K, Matsuura S, Nakamura A, Shiraishi T, Ito E, Masnada D, Delia D, Komatsu K. The forkhead-associated domain of NBS1 is essential for nuclear foci formation after irradiation but not essential for hRAD50-hMRE11-NBS1 complex DNA repair activity. J Biol Chem 276, 12-15 (2001).
松浦伸也．染色体不安定症候群の臨床と検査法．臨床検査　45, 182-186 (2001).
松浦伸也．毛細血管拡張性運動失調症．日本臨床　別冊先天異常症候群辞典　240-241 (2001).
松浦伸也．Nijmegen染色体不安定症候群．日本臨床　別冊先天異常症候群辞典　320-322 (2001).
松浦伸也、小松賢志．毛細血管拡張性運動失調症と関連疾患の遺伝子機能．遺伝子医学　5, 472-476 (2001).
Matsuura S, Ito E, Tauchi H, Komatsu K, Ikeuchi T, Kajii T. Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint. Am J Hum Genet 67, 483-486 (2000).
Ishikawa S, Ishikawa M, Tokuda T, Yoshida K, Wakui K, Matsuura S, Ohara S, Sekijima Y, Hidaka E, Fukushima Y, Shigeta H, Komatsu K, Ikeda S. Japanese family with an autosomal dominant chromosome instability syndrome: a new neurodegenerative disease? Am J Med Genet 94, 265-270 (2000).
Hama S, Matsuura S, Tauchi H, Sawada J, Kato C, Yamasaki F, Yoshioka H, Sugiyama K, Arita K, Kurisu K, Kamada N, Heike Y, Komatsu K. Absence of mutations in the NBS1 gene in B-cell malignant lymphoma patients. Anticancer Res 20, 1897-1900 (2000).
Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group. Arch Dis Child 82, 400-406 (2000).
Tauchi H, Matsuura S, Isomura M, Kinjo T, Nakamura A, Sakamoto S, Kondo N, Endo S, Komatsu K, Nakamura Y. Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1. Genomics 55, 242-247 (1999).
Nakamura A, Matsuura S, Tauchi H, Hanada R, Ohashi H, Hasegawa T, Honda K, Masuno M, Imaizumi K, Sugita K, Ide T, Komatsu K. Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. J Hum Genet 44, 48-51 (1999).
Morishima K, Matsuura S, Tauchi H, Nakamura A, Komatsu K. A polymorphic CA repeat marker at the human 27-kD calbindin (CALB1) locus. J Hum Genet 44, 414-415 (1999).
Ito A, Tauchi H, Kobayashi J, Morishima K, Nakamura A, Hirokawa Y, Matsuura S, Ito K, Komatsu K. Expression of full-length NBS1 protein restores normal radiation responses in cells from Nijmegen breakage syndrome patients. Biochem Biophys Res Commun 265, 716-721 (1999).
Tauchi H, Endo S, Eguchi-Kasai K, Furusawa Y, Suzuki M, Matsuura S, Ando K, Nakamura N, Sawada S, Komatsu K. Cell cycle and LET dependence for radiation-induced mutation: a possible mechanism for reversed dose-rate effect. J Radiat Res (Tokyo) 40 Suppl, 45-52 (1999).
Hiramoto T, Nakanishi T, Sumiyoshi T, Fukuda T, Matsuura S, Tauchi H, Komatsu K, Shibasaki Y, Inui H, Watatani M, Yasutomi M, Sumii K, Kajiyama G, Kamada N, Miyagawa K, Kamiya K. Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer. Oncogene 18, 3422-3426 (1999).
Endo S, Hoshi M, Takada J, Tauchi H, Matsuura S, Takeoka S, Kitagawa K, Suga S, Komatsu K. Neutron generator (HIRRAC) and dosimetry study. J Radiat Res (Tokyo) 40 Suppl, 14-20 (1999).
Matsuura S, Tauchi H, Nakamura A, Kondo N, Sakamoto S, Endo S, Smeets D, Solder B, Belohradsky BH, Der Kaloustian VM, Oshimura M, Isomura M, Nakamura Y, Komatsu K. Positional cloning of the gene for Nijmegen breakage syndrome. Nature Genet 19, 179-181 (1998).
Matsuura K, Balmukhanov T, Tauchi H, Weemaes C, Smeets D, Chrzanowska K, Endou S, Matsuura S, Komatsu K. 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 (1998).
Endo S, Nitta Y, Ohtaki M, Takada J, Stepanenko V, Komatsu K, Tauchi H, Matsuura S, Iaskova E, Hoshi M. Estimation of dose absorbed fraction for 131I-beta rays in rat thyroid. J Radiat Res (Tokyo) 39, 223-230 (1998).
Shoji S, Watanabe H, Katoh O, Masaoka Y, Matsuura S, Tauchi H, Endo S, Komatsu K. Developmental malformations and intrauterine deaths in gamma-ray-irradiated scid mouse embryos. Int J Radiat Biol 73, 705-709 (1998).
Matsuura S, Weemaes C, Smeets D, Takami H, Kondo N, Sakamoto S, Yano N, Nakamura A, Tauchi H, Endo S, Oshimura M, Komatsu K. Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24. Am J Hum Genet 60, 1487-1494 (1997).
Komatsu K, Tauchi H, Yano N, Endo S, Matsuura S, Shoji S. Inhibitory action of (-)-epigallocatechin gallate on radiation-induced mouse oncogenic transformation. Cancer Lett 112, 135-139 (1997).
Matsuura S, Episkopou V, Hamvas R, Brown SD. Xist expression from an Xist YAC transgene carried on the mouse Y chromosome. Hum Mol Genet 5, 451-459 (1996).
Komatsu K, Matsuura S, Tauchi H, Endo S, Kodama S, Smeets D, Weemaes C, Oshimura M. The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11. Am J Hum Genet 58, 885-888 (1996).