2000 年度実績報告書

ヒトゲノム構造解析

研究課題

研究課題/領域番号	08283108
研究機関	国立がんセンター(研究所)
研究代表者	大木操国立がんセンター研究所, 腫瘍ゲノム解析・情報研究部, 部長 (00158792)
研究分担者	辻省次新潟大学, 脳研究所, 教授 (70150612) 清水信義慶應義塾大学, 医学部, 教授 (50162706) 榊佳之東京大学, 医科学研究所, 教授 (10112327) 阿部達生京都府立医科大学, 教授 (60079746) 新川詔夫長崎大学, 医学部, 教授 (00111170)
キーワード	21番染色体 / 全塩基配列 / ドラフトシーケンス / 遺伝性聾DFNB8・B10 / 遺伝性脊髄小脳変性症 / Sotos症候群 / 子宮体癌 / 染色体カラーバンディング法
研究概要	21番染色体については国際協力のもと長腕の全塩基配列を決定し、新規遺伝子98種を含む225の遺伝子を同定した。5Mb以上にわたって遺伝子がほとんど存在しない領域の発見など染色体の特色を明らかにした。また11番、18番を中心に約180Mbのドラフトシーケンスを決定し解析した。21番・22番染色体の塩基配列に基づき、多数の新規遺伝子を発見した。また、膜貫通型プロテアーゼTMPRSS3が遺伝性聾DFNB8/B10の病因遺伝子だあることを解明した。低アルブミン血症を伴う遺伝性脊髄小脳変性症、良性家族性ミオクローヌスてんかんについて、強い連鎖不平衡を示す領域を同定し、疾患遺伝子の候補領域を絞り込んだ。染色体相互転座t(5;8)8q35;q24.1)をもつSotos症候群(脳性巨人症)患者の5q35転座切断点から同疾患の候補遺伝子(SOTOS1)を単離した。11q23領域内に共通欠失をもつ乳癌、肺癌、子宮体癌、神経芽細胞腫の各領域計6Mbについてゲノム解析を行い、合計59遺伝子を同定した。肺癌、子宮体癌において体細胞遺伝子変異を起こしている遺伝子を見出した。膵臓がんの標的領域である6q21上の1-Mbの領域、10q25-q26上の100-kbの領域の塩基配列を完全解読した。ヒト遺伝子群約7,000種類について、放射線照射によるDNA損傷にどのように応答するかをSAGE法により解析し遺伝子発現パターンデータベースを構築した。人工染色体を用いた解析から70kb以上のアルフォイドDNAは機能的なセントロメア・クロマチン構造を形成することを示した。cDNA全長シーケンスの実験データを統合、比較的ラフな誤りを含む情報から実験データの誤りを特定、改善し、フレームシフトエラーを検出、自動修正したタンパク質予測を行うコンピューターシステムを構築した。Gバンドに一致したバンドごとに異なった色調で識別できる新しい染色体カラーバンディング法、spectral color banding(SCAN)法を開発し、染色体の由来をバンド単位で同定可能にした。多チャンネルキャピラリー電気泳動装置を用いたPLACE-SSCP法を泳動担体、解析ソフトウエアの開発を通し確立した。

研究成果

(94件)

すべてその他

すべて文献書誌 (94件)

[文献書誌] Morohoshi,F.: "Structure and expression pattern of a human MTG8/ETO family gene, MTGR1."Gene. 241. 287-295 (2000)
[文献書誌] Shimizu,K.: "AML1-MTG8 leukemic protein induces the expression of granulocyte colony-stimulating factor (G-CSF) receptor through the up-regulation of CCAAT/enhancer binding protein epsilon."Blood. 96. 288-296 (2000)
[文献書誌] Shimada,H.: "Analysis of genes under the Downstream control of the t(8;21) fusion protein AML1-MTG8 : Overexpression of the TIS11b (ERF-1, cMG1) gene induces myeloid cell proliferation in response to G-CSF."Blood. 96. 655-663 (2000)
[文献書誌] Ohira,M.: "Identification and chracterization of a 500-kb homozygously deleted region at 1p36.2-p36.3 in a neulobrastoma cell line."Oncogene. 19. 4302-4307 (2000)
[文献書誌] Kitabayashi,I.: "Fusion of MOZ and p300 histone acetyltransferases in acute monocytic leukemia with a t(8:22)(p11;q13) chromosome translocation."Leukemia. (in press).
[文献書誌] Suzuki,T.: "Molecular cloning of a novel apoptosis-related gene, human Nap1(NCKAP1), and its possible relation to Alzheimer disease."Genomics. 63. 246-254 (2000)
[文献書誌] Ito,T.: "Toward a protein-protein interaction map of the budding yeast : A comprehensive system to examine two-hybrid interactions in all possible combinations between the yeast proteins."Proc.Nail.Acad.Sci.,U.S.A.. 97. 1143-1147 (2000)
[文献書誌] Iijima,Y.: "A new ETV/TEL partner gene, ARC (ABL-related gene or ABL2), identified in an AML-M3 cell line with a t(1;12)(q25;13) translocation."Blood. 15. 2126-2131 (2000)
[文献書誌] Hida,A.: "The human and mouse Period1 genes : Five well-conserved e-boxes additively contribute to the enhancement of mPer1 transcription."Genomics. 65. 224-233 (2000)
[文献書誌] Yamazaki,S.: "Resetting central and peripheral circadian oscillators in transgenic rats."Science. 288. 682-685 (2000)
[文献書誌] Hattori,M.: "The DNA sequence of human chromosome 21."Nature. 405. 311-319 (2000)
[文献書誌] Togashi,T.: "A novel gene, DSCR5, from the distal down syndrome critical region on chromosome 21q22.2."DNA Res.. 7. 207-212 (2000)
[文献書誌] Yatsuki,H.: "Sequence-based structural features between Kvlqt1 and Tapa1 on mouse chromosome 7F4/F5 coneponding to the Beckwith-Wiedeman n syndrome region on human 11p15.5 : long stretches of unusually well conserved intronic sequences of Kvlqt1 between mouse and human."DNA Res.. 7. 195-206 (2000)
[文献書誌] Kubota,H.: "G1 domain-mediated association of the eukaryotic initiation factor 2 α kinase GCN2 with its activator GCN1 is required for general amino acid control in budding yeast."J.Biol.Chem.. 275. 20243-20246 (2000)
[文献書誌] Shigenobu,S.: "Genome sequence of the endocellular bacterial symbiont of aphids Buchnera sp. APS."Nature. 407. 81-86 (2000)
[文献書誌] Mizushima,K.: "A novel G-protein coupled receptor gene expressed in striatum."Genomics. 69. 314-321 (2000)
[文献書誌] Inaternational Human Genome Sequencing Consortium: "Initial sequencing and analysis of the human genome."Nature. 409. 860-921 (2001)
[文献書誌] Shiina,T.: "The beta 1,3-galactosyltransferase-4 (B3GALT4) gene is located in the centromeric segment of the human MHC class II region."Imuunogenetics. 51. 75-78 (2000)
[文献書誌] Gao,P.S.: "Variants of NOS1, NOS2 and NOS3 genes in Asthmatics."Biochem.Biophys.Res.Commun.. 267. 761-763 (2000)
[文献書誌] Teraoka,Y.: "Genetic polymorphisms in the cell growth regulated gene. SC1 telomeric of the HLA-C gene and lack of association with psoriasis vulgaris."Tissue Antigens. 55. 206-211 (2000)
[文献書誌] Dai,K.Z.: "The SH2D2A gene encoding the T-cell-specific adapter protein (TSAd) is localized centromeric to the CD1 gene clusrter on human chromosome 1."Immunogenetics. 51. 179-185 (2000)
[文献書誌] Keicho,N.: "Fine localization of a major disease-susceptibility locus for diffuse panbronchiolitis."Am.J.Hum Genet.. 66. 501-507 (2000)
[文献書誌] Watanabe,Y.: "Replication timing of the human X-inactivation center (XIC) region : correlation with chromosome bands."Gene. 252. 163-172 (2000)
[文献書誌] Naruse,T.K.: "HLA-DQ1 ^*0601 is primarily associated with the susceptibility to cardiac sarcoidosis."Tissue Antigens. 56. 52-57 (2000)
[文献書誌] Mizuki,N.: "Localization of the pathogenic gene of Behcet's disease by microsatellite analysis of three different populations."Invest.Ophthalmol.Vis.Sci.. 41. 3702-3708 (2000)
[文献書誌] Matsuzaka,Y.: "New polymorphic microsatellite markers in the human MHC class II region."Tissue Antigens. 56. 492-500 (2000)
[文献書誌] Saito,S.: "Allele frequencies and haplotypic associations defined by allelic DNA typing at HLA class 1 and Class II loci in the Japanese population."Tissue Antigens. 56. 522-529 (2000)
[文献書誌] Ota,M.: "A second susceptibility gene for developing rheumatoid arthritis in the human MHC is localized within a 70 kb interval telomeric of the TNF genes in the HLA class III region."Genomics. (in press).
[文献書誌] Sugata,N.: "Human CENP-H multimers colocalize with CENP-A and CENP-C at active centromere-kinetochore complexes."Human Mol.Genet.. 9. 2919-2926 (2000)
[文献書誌] Shibasaki,Y.: "Linkage of autosomal recesssive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13-15."Ann.Neurol.. 48. 108-112 (2000)
[文献書誌] Takano,H.: "Mutational analysis of X-linked adrenoleukodystrophy gene."Cell.Biohem.Biophys.. 32. 177-185 (2000)
[文献書誌] Shimohata,T.: "Expanded polyglutamine stretches associated with CAG repeat diseases interact with TAFII130, interfering with CREB-dependent transcription."Nature Genet.. 26. 29-35 (2000)
[文献書誌] Ohara,K.: "A CAG trinucleotide repeat expansion and familial schizophrenia."Psychiat.Res.. 94. 257-262 (2000)
[文献書誌] Aapola,U.: "Isolation and initial characterization of a novel zinc finger gone, DNMT3L on 21q22.3, related to cytosine-5-methyltransferase 3 gene family."Genomics. 65. 293-298 (2000)
[文献書誌] Shibuya,K.: "Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21 q22.2."Biochem.Biophys.Res.Commun.. 271. 693-698 (2000)
[文献書誌] The chromosome 21 mapping and sequencing consortium: "The DNA sequence of human chromosome 21."Nature. 405. 311-319 (2000)
[文献書誌] Pitkanen,J.: "The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein."J.Biol.Chem.. 275. 16802-16809 (2000)
[文献書誌] Berry,A.: "Refined localization of autosomal recessive non-syndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure and exclusion of six known genes in the region."Genomics. 68. 22-29 (2000)
[文献書誌] Guipponi,M.: "C2lorf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning."Genomics. 68. 30-40 (2000)
[文献書誌] Michaud,J.: "Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein."Genomics. 68. 71-79 (2000)
[文献書誌] Bartoloni,L.: "Cloning and characrterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on mutation analysis in 2 candidate phenotypes, DFNB10 and a glycerol kinase deficiency."Genomics. 70. 190-200 (2000)
[文献書誌] Scott,H.: "Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness."Nature Genet.. 27. 59-63 (2001)
[文献書誌] Jong,Y.J.: "Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy."Neuromuscul Disord. 10. 108-112 (2000)
[文献書誌] Futaki,M.: "The IVS4+4 A-T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients."Blood. 95. 1493-1498 (2000)
[文献書誌] Saito,K.: "Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy."Am.J.Med.Genet.. 92. 184-190 (2000)
[文献書誌] Chadani,Y.: "Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy."J.Nuerol Sci.. 177. 150-153 (2000)
[文献書誌] Sasaki,J.: "Neuronal expression of the fukutin gene."Hum.Mol.Genet.. 9. 3083-3090 (2000)
[文献書誌] Kobayashi,K.: "Structural organization, complete genomic sequences, and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin."FEBS Lett.. 489. 192-196 (2001)
[文献書誌] Ghadamii,M.: "Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.2-q13.3."Am.J.Hum.Genet.. 66. 143-147 (2000)
[文献書誌] Kinoshita,A.: "Domain specific mutations in the human transforming growth factor beta 1 gene (TGFB1) result in Camurati-Englemann disease."Nature Genet.. 26. 19-20 (2000)
[文献書誌] Yamada,K.: "An autosomal dominant posterior polar cataract locus maps to human chromosome 20."Eur.J.Hum.Genet.. 8. 535-539 (2000)
[文献書誌] Hayashida,S.: "Construction of a physical and transcript map flanking the imprinted MEST/PEG1 region at 7q32."Genomics. 66. 221-225 (2000)
[文献書誌] Ghadami,M.: "Bardet-Biedl syndrome type 3 in an Iranian family : Clinical study and confirmation of disease localization."Am.J.Med.Genet.. 94. 433-437 (2000)
[文献書誌] Ghadami,M.: "Comfirmation of genetic homogeneity of syndactyly type 1 in an Iranian family."Am.J.Med.Genet.. (in press).
[文献書誌] Uemura,K.: "Deletion polymorphism of ACE gene is associated with higher blood pressure after hospitalization in normotensive subjects."Hypertens.Res.. 23. 201-205 (2000)
[文献書誌] Uemura,K.: "Association of ACE 1/D polymorphism with cardiovascular risk factors."Hum.Genet.. 107. 239-242 (2000)
[文献書誌] Kamino,K.: "Deficiency in mitochondrial aldehyde dehydrogenase increases the risk for late-onset Alzheimer's disease."Biochem.Biophys.Res.Commun.. 273. 192-196 (2000)
[文献書誌] Hatanaka,Y.: "Low density lipoprotein receptor-related protein gene polymorphisms and risk for late-onset Alzheimer's disease in a Japanese population."Clin.Genet.. 58. 319-323 (2000)
[文献書誌] Muroya,K.: "Sex-determining gene (s) on distal 9p : Clinical and molecular studies in six cases."J.Clin.Endocrinol.Metab.. 85. 3094-3100 (2000)
[文献書誌] Seki,H.: "Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses."Am.J.Med.Genet.. 99. 59-62 (2001)
[文献書誌] Kitamura,Y.: "Association of allelic loss on 1q, 4p, 7q, 9p, and 16q with postoperative death in papillary thyroid carcinoma."Clin.Cancer Res.. 6. 1819-1825 (2000)
[文献書誌] Kurose,K.: "Novel gene fusion of COX6C at 8q22-23 to HMGIC at 12q 15 in a uterine leiomyoma."Genes.Chrom.Cancer. 27. 303-307 (2000)
[文献書誌] Kitamura,Y.: "Allelotyping of anaplastic thyroid carcinoma : Frequent allelic losses on 1q,9p,11,17,19p, and 22q."Genes.Chrom.Cancer. 27. 244-251 (2000)
[文献書誌] Yokota,T.: "Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma."J.Hum.Genet.. 45. 6-11 (2000)
[文献書誌] Bando,K.: "Identification of a 1-Mb common region at 16q24.1-24.2 deleted in hepatocellular carcinoma."Genes.Chrom.Cancer. 28. 38-44 (2000)
[文献書誌] Kurose,K.: "Three aberrent splicing variants of the HMGIC gene transcribed in uterine leiomyomas."Genes.Chrom.Cancer. 30. 212-217 (2001)
[文献書誌] Akao,Y.: "Molecular analysis of the rearranged genome and chimeric mRNAs caused by the t(6;11)(q27;q23) chromosome translocation involving MLL in an infant acute monocytic leukemia."Genes.Chrom.Cancer. 27. 412-417 (2000)
[文献書誌] Saitou,M.: "Identification of the TCL6 genes within the beakpoint cluster region on chromosome 14q32 in T-cell leukemia."Oncogene. 19. 2796-2802 (2000)
[文献書誌] Fushimi,H.: "Genetic heterogeneity of ribosomal RNA gene and matK gene in Panax notoginseng."Planta.Medica.. 66. 659-661 (2000)
[文献書誌] Suga,M.: "Cryopreservation of competent intact yeast cells for efficient electoroporation."Yeast. 16. 889-896 (2000)
[文献書誌] Makino,N.: "Isolation and chracterization of the human gene homologous to the Drosophila headcase (hdc) gene in chromosome bands 6q23-q24, a region of common deletion in human pancreatic cancer."DNA Seq.. (in press).
[文献書誌] Youssecf,E.M.: "Human BAC contig covering the deleted region in pancreatic cancer at 12q21."DNA seq.. (in press).
[文献書誌] Yatsuoka,T.: "Association of poor prognosis with loss of 12q,7p, and 18q, and concordant loss of 6q/17p and 12q/18q in human pancreatic ductal adenocarcinoma."Am.J.Gastroenterol.. 95. 2080-2085 (2000)
[文献書誌] Osoegewa,K.: "Bacterial artificial chromosome libraries for mouse sequencing and functional analysis."Genome.Res.. 10. 116-128 (2000)
[文献書誌] Akiyoshi,S.: "A genetic linkage map of the MSM Japanese wild mouse strain with restriction landmark genomic scanning (RLGS)."Mammal Genome.. 11. 356-359 (2000)
[文献書誌] Okazaki,Y.: "Normalization and subtraction of cap-trapper selected cDNAs to prepare full-length cDNA libraries for high-rate new gene discovery."Genome.Res.. 10. 1617-1630 (2000)
[文献書誌] Shibata,K.: "RIKEN integrated sequence analysis system (RISA system)-384-format sequencing pipeline with 384 multi-capillary sequencer."Genome.Res.. 10. 1757-1771 (2000)
[文献書誌] Sugahara,Y.: "Comparative evaluation of 5' -end-sequence quality and other chracteristics of clones in CAP trapper and other full-lengh-cDNA libraries."Gene. (in press).
[文献書誌] Konno,H.: "Computer-based methods for a mouse full-length cDNA project : real-time sequence clustering for construction of a non-redundnt library."Genome.Res.. 11. 281-289 (2001)
[文献書誌] Miki,R.: "Gene expression profiling using the 19K set of RIKEN full-length mouse cDNA microarray."Proc.Natl.Acd.Sci.,U.S.A.. (in press).
[文献書誌] The RIKEN Genome Exploration Research Group Phase II Team and the FANTOM Consortium: "Functional annotation of 21,076 sequenced mouse cDNAs prepared from full-length enriched libraries."Nature. 409. 685-690 (2001)
[文献書誌] International Human Genome Sequencing Consortium: "Initial sequencing and analysis of the human genome."Nature. 409. 860-921 (2001)
[文献書誌] Park,H.S.: "Newly identified repeat sequences, deried from human chromosome 21q-ter, are also localized in the subtelomeric region of particular chromosomes and 2q13, and are conserved in the chimpanzee genome."FEBS Lett.. 475. 167-169 (2000)
[文献書誌] Bruls,T.: "A clone map of human chromosome 14."Nature. 409. 947-948 (2001)
[文献書誌] kakazu,N.: "Characterization of complex chromosomal abnormalities in B-cell lymphoma by a combined spectral karyotyping (SKY) analysis and fluorescene in situ hybridization (FISH) using a 14q telomere probe."Am.J.Hematol.. 65. 291-297 (2000)
[文献書誌] Kuroda,J.: "Aggressive natural killer cell leukemia/lymphoma : a comprehensive cytogenetic study by spectral karyotyping."Ann.Hematol.. 79. 519-522 (2000)
[文献書誌] Koide,K.: "An improved rapid procedure for fluorescence in situ hybridization that is applicable to intraoperative cancer cytodiagnosis."Cancer Lett.. 158. 165-169 (2000)
[文献書誌] Minamiguchi,H.: "Interleukin 6 receptor expression by human cord blood- or peripheral blood-derived primitive haematopoietic progenitors implies acquisition of different functional properties."Br.J.Haematol.. 110. 327-338 (2000)
[文献書誌] Okuda,T.: "Biological chrateristics of the leukemia-associated transcriptional factor AML1 disclosed by hematopoietic rescue of AML1-deficient embryonic stem cells by using a knock-in strategy."Mol.Cell.Biol.. 20. 319-328 (2000)
[文献書誌] Kakazu,N.: "Development of spectral color banding in cytogenetic analysis."Lancet. 357. 529-530 (2001)
[文献書誌] Horiuchi,T.: "Dominant expression of a novel splice variant of caspase-8 in human peripheral blood lymphocytes."Biochem.Biophys.Res.Commun.. 272. 877-881 (2000)
[文献書誌] Kondo,H.: "Microsatellite genotyping of post-PCR fluorescently labeled markers."Biotechniques. 29. 868-872 (2000)
[文献書誌] Sasaki,T.: "Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA."Am.J.Hum.Genet.. 68. 214-218 (2001)
[文献書誌] Suzuki,A.: "Polar alteration of short tandem repeats (STRs) in mammlian cells."Mut.Res.. 474. 159-168 (2001)

2000 年度 実績報告書

ヒトゲノム構造解析

研究代表者

大木 操 国立がんセンター研究所, 腫瘍ゲノム解析・情報研究部, 部長 (00158792)

研究成果

[文献書誌] Morohoshi,F.: "Structure and expression pattern of a human MTG8/ETO family gene, MTGR1."Gene. 241. 287-295 (2000)

[文献書誌] Shimizu,K.: "AML1-MTG8 leukemic protein induces the expression of granulocyte colony-stimulating factor (G-CSF) receptor through the up-regulation of CCAAT/enhancer binding protein epsilon."Blood. 96. 288-296 (2000)

[文献書誌] Shimada,H.: "Analysis of genes under the Downstream control of the t(8;21) fusion protein AML1-MTG8 : Overexpression of the TIS11b (ERF-1, cMG1) gene induces myeloid cell proliferation in response to G-CSF."Blood. 96. 655-663 (2000)

[文献書誌] Ohira,M.: "Identification and chracterization of a 500-kb homozygously deleted region at 1p36.2-p36.3 in a neulobrastoma cell line."Oncogene. 19. 4302-4307 (2000)

[文献書誌] Kitabayashi,I.: "Fusion of MOZ and p300 histone acetyltransferases in acute monocytic leukemia with a t(8:22)(p11;q13) chromosome translocation."Leukemia. (in press).

[文献書誌] Suzuki,T.: "Molecular cloning of a novel apoptosis-related gene, human Nap1(NCKAP1), and its possible relation to Alzheimer disease."Genomics. 63. 246-254 (2000)

[文献書誌] Ito,T.: "Toward a protein-protein interaction map of the budding yeast : A comprehensive system to examine two-hybrid interactions in all possible combinations between the yeast proteins."Proc.Nail.Acad.Sci.,U.S.A.. 97. 1143-1147 (2000)

[文献書誌] Iijima,Y.: "A new ETV/TEL partner gene, ARC (ABL-related gene or ABL2), identified in an AML-M3 cell line with a t(1;12)(q25;13) translocation."Blood. 15. 2126-2131 (2000)

[文献書誌] Hida,A.: "The human and mouse Period1 genes : Five well-conserved e-boxes additively contribute to the enhancement of mPer1 transcription."Genomics. 65. 224-233 (2000)

[文献書誌] Yamazaki,S.: "Resetting central and peripheral circadian oscillators in transgenic rats."Science. 288. 682-685 (2000)

[文献書誌] Hattori,M.: "The DNA sequence of human chromosome 21."Nature. 405. 311-319 (2000)

[文献書誌] Togashi,T.: "A novel gene, DSCR5, from the distal down syndrome critical region on chromosome 21q22.2."DNA Res.. 7. 207-212 (2000)

[文献書誌] Kubota,H.: "G1 domain-mediated association of the eukaryotic initiation factor 2 α kinase GCN2 with its activator GCN1 is required for general amino acid control in budding yeast."J.Biol.Chem.. 275. 20243-20246 (2000)

[文献書誌] Shigenobu,S.: "Genome sequence of the endocellular bacterial symbiont of aphids Buchnera sp. APS."Nature. 407. 81-86 (2000)

[文献書誌] Mizushima,K.: "A novel G-protein coupled receptor gene expressed in striatum."Genomics. 69. 314-321 (2000)

[文献書誌] Inaternational Human Genome Sequencing Consortium: "Initial sequencing and analysis of the human genome."Nature. 409. 860-921 (2001)

[文献書誌] Shiina,T.: "The beta 1,3-galactosyltransferase-4 (B3GALT4) gene is located in the centromeric segment of the human MHC class II region."Imuunogenetics. 51. 75-78 (2000)

[文献書誌] Gao,P.S.: "Variants of NOS1, NOS2 and NOS3 genes in Asthmatics."Biochem.Biophys.Res.Commun.. 267. 761-763 (2000)

[文献書誌] Teraoka,Y.: "Genetic polymorphisms in the cell growth regulated gene. SC1 telomeric of the HLA-C gene and lack of association with psoriasis vulgaris."Tissue Antigens. 55. 206-211 (2000)

[文献書誌] Dai,K.Z.: "The SH2D2A gene encoding the T-cell-specific adapter protein (TSAd) is localized centromeric to the CD1 gene clusrter on human chromosome 1."Immunogenetics. 51. 179-185 (2000)

[文献書誌] Keicho,N.: "Fine localization of a major disease-susceptibility locus for diffuse panbronchiolitis."Am.J.Hum Genet.. 66. 501-507 (2000)

[文献書誌] Watanabe,Y.: "Replication timing of the human X-inactivation center (XIC) region : correlation with chromosome bands."Gene. 252. 163-172 (2000)

[文献書誌] Naruse,T.K.: "HLA-DQ1 ^*0601 is primarily associated with the susceptibility to cardiac sarcoidosis."Tissue Antigens. 56. 52-57 (2000)

[文献書誌] Mizuki,N.: "Localization of the pathogenic gene of Behcet's disease by microsatellite analysis of three different populations."Invest.Ophthalmol.Vis.Sci.. 41. 3702-3708 (2000)

[文献書誌] Matsuzaka,Y.: "New polymorphic microsatellite markers in the human MHC class II region."Tissue Antigens. 56. 492-500 (2000)

[文献書誌] Saito,S.: "Allele frequencies and haplotypic associations defined by allelic DNA typing at HLA class 1 and Class II loci in the Japanese population."Tissue Antigens. 56. 522-529 (2000)

[文献書誌] Ota,M.: "A second susceptibility gene for developing rheumatoid arthritis in the human MHC is localized within a 70 kb interval telomeric of the TNF genes in the HLA class III region."Genomics. (in press).

[文献書誌] Sugata,N.: "Human CENP-H multimers colocalize with CENP-A and CENP-C at active centromere-kinetochore complexes."Human Mol.Genet.. 9. 2919-2926 (2000)

[文献書誌] Shibasaki,Y.: "Linkage of autosomal recesssive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13-15."Ann.Neurol.. 48. 108-112 (2000)

[文献書誌] Takano,H.: "Mutational analysis of X-linked adrenoleukodystrophy gene."Cell.Biohem.Biophys.. 32. 177-185 (2000)

[文献書誌] Shimohata,T.: "Expanded polyglutamine stretches associated with CAG repeat diseases interact with TAFII130, interfering with CREB-dependent transcription."Nature Genet.. 26. 29-35 (2000)

[文献書誌] Ohara,K.: "A CAG trinucleotide repeat expansion and familial schizophrenia."Psychiat.Res.. 94. 257-262 (2000)

[文献書誌] Aapola,U.: "Isolation and initial characterization of a novel zinc finger gone, DNMT3L on 21q22.3, related to cytosine-5-methyltransferase 3 gene family."Genomics. 65. 293-298 (2000)

[文献書誌] Shibuya,K.: "Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21 q22.2."Biochem.Biophys.Res.Commun.. 271. 693-698 (2000)

[文献書誌] The chromosome 21 mapping and sequencing consortium: "The DNA sequence of human chromosome 21."Nature. 405. 311-319 (2000)

[文献書誌] Pitkanen,J.: "The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein."J.Biol.Chem.. 275. 16802-16809 (2000)

[文献書誌] Berry,A.: "Refined localization of autosomal recessive non-syndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure and exclusion of six known genes in the region."Genomics. 68. 22-29 (2000)

[文献書誌] Guipponi,M.: "C2lorf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning."Genomics. 68. 30-40 (2000)

[文献書誌] Michaud,J.: "Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein."Genomics. 68. 71-79 (2000)

[文献書誌] Bartoloni,L.: "Cloning and characrterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on mutation analysis in 2 candidate phenotypes, DFNB10 and a glycerol kinase deficiency."Genomics. 70. 190-200 (2000)

[文献書誌] Scott,H.: "Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness."Nature Genet.. 27. 59-63 (2001)

[文献書誌] Jong,Y.J.: "Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy."Neuromuscul Disord. 10. 108-112 (2000)

[文献書誌] Futaki,M.: "The IVS4+4 A-T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients."Blood. 95. 1493-1498 (2000)

[文献書誌] Saito,K.: "Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy."Am.J.Med.Genet.. 92. 184-190 (2000)

[文献書誌] Chadani,Y.: "Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy."J.Nuerol Sci.. 177. 150-153 (2000)

[文献書誌] Sasaki,J.: "Neuronal expression of the fukutin gene."Hum.Mol.Genet.. 9. 3083-3090 (2000)

[文献書誌] Kobayashi,K.: "Structural organization, complete genomic sequences, and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin."FEBS Lett.. 489. 192-196 (2001)

[文献書誌] Ghadamii,M.: "Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.2-q13.3."Am.J.Hum.Genet.. 66. 143-147 (2000)

[文献書誌] Kinoshita,A.: "Domain specific mutations in the human transforming growth factor beta 1 gene (TGFB1) result in Camurati-Englemann disease."Nature Genet.. 26. 19-20 (2000)

[文献書誌] Yamada,K.: "An autosomal dominant posterior polar cataract locus maps to human chromosome 20."Eur.J.Hum.Genet.. 8. 535-539 (2000)

[文献書誌] Hayashida,S.: "Construction of a physical and transcript map flanking the imprinted MEST/PEG1 region at 7q32."Genomics. 66. 221-225 (2000)

[文献書誌] Ghadami,M.: "Bardet-Biedl syndrome type 3 in an Iranian family : Clinical study and confirmation of disease localization."Am.J.Med.Genet.. 94. 433-437 (2000)

[文献書誌] Ghadami,M.: "Comfirmation of genetic homogeneity of syndactyly type 1 in an Iranian family."Am.J.Med.Genet.. (in press).

[文献書誌] Uemura,K.: "Deletion polymorphism of ACE gene is associated with higher blood pressure after hospitalization in normotensive subjects."Hypertens.Res.. 23. 201-205 (2000)

[文献書誌] Uemura,K.: "Association of ACE 1/D polymorphism with cardiovascular risk factors."Hum.Genet.. 107. 239-242 (2000)

[文献書誌] Kamino,K.: "Deficiency in mitochondrial aldehyde dehydrogenase increases the risk for late-onset Alzheimer's disease."Biochem.Biophys.Res.Commun.. 273. 192-196 (2000)

[文献書誌] Hatanaka,Y.: "Low density lipoprotein receptor-related protein gene polymorphisms and risk for late-onset Alzheimer's disease in a Japanese population."Clin.Genet.. 58. 319-323 (2000)

[文献書誌] Muroya,K.: "Sex-determining gene (s) on distal 9p : Clinical and molecular studies in six cases."J.Clin.Endocrinol.Metab.. 85. 3094-3100 (2000)

[文献書誌] Seki,H.: "Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses."Am.J.Med.Genet.. 99. 59-62 (2001)

[文献書誌] Kitamura,Y.: "Association of allelic loss on 1q, 4p, 7q, 9p, and 16q with postoperative death in papillary thyroid carcinoma."Clin.Cancer Res.. 6. 1819-1825 (2000)

[文献書誌] Kurose,K.: "Novel gene fusion of COX6C at 8q22-23 to HMGIC at 12q 15 in a uterine leiomyoma."Genes.Chrom.Cancer. 27. 303-307 (2000)

[文献書誌] Kitamura,Y.: "Allelotyping of anaplastic thyroid carcinoma : Frequent allelic losses on 1q,9p,11,17,19p, and 22q."Genes.Chrom.Cancer. 27. 244-251 (2000)

[文献書誌] Yokota,T.: "Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma."J.Hum.Genet.. 45. 6-11 (2000)

[文献書誌] Bando,K.: "Identification of a 1-Mb common region at 16q24.1-24.2 deleted in hepatocellular carcinoma."Genes.Chrom.Cancer. 28. 38-44 (2000)

[文献書誌] Kurose,K.: "Three aberrent splicing variants of the HMGIC gene transcribed in uterine leiomyomas."Genes.Chrom.Cancer. 30. 212-217 (2001)

[文献書誌] Akao,Y.: "Molecular analysis of the rearranged genome and chimeric mRNAs caused by the t(6;11)(q27;q23) chromosome translocation involving MLL in an infant acute monocytic leukemia."Genes.Chrom.Cancer. 27. 412-417 (2000)

[文献書誌] Saitou,M.: "Identification of the TCL6 genes within the beakpoint cluster region on chromosome 14q32 in T-cell leukemia."Oncogene. 19. 2796-2802 (2000)

[文献書誌] Fushimi,H.: "Genetic heterogeneity of ribosomal RNA gene and matK gene in Panax notoginseng."Planta.Medica.. 66. 659-661 (2000)

[文献書誌] Suga,M.: "Cryopreservation of competent intact yeast cells for efficient electoroporation."Yeast. 16. 889-896 (2000)

[文献書誌] Makino,N.: "Isolation and chracterization of the human gene homologous to the Drosophila headcase (hdc) gene in chromosome bands 6q23-q24, a region of common deletion in human pancreatic cancer."DNA Seq.. (in press).

[文献書誌] Youssecf,E.M.: "Human BAC contig covering the deleted region in pancreatic cancer at 12q21."DNA seq.. (in press).

[文献書誌] Yatsuoka,T.: "Association of poor prognosis with loss of 12q,7p, and 18q, and concordant loss of 6q/17p and 12q/18q in human pancreatic ductal adenocarcinoma."Am.J.Gastroenterol.. 95. 2080-2085 (2000)

[文献書誌] Osoegewa,K.: "Bacterial artificial chromosome libraries for mouse sequencing and functional analysis."Genome.Res.. 10. 116-128 (2000)

[文献書誌] Akiyoshi,S.: "A genetic linkage map of the MSM Japanese wild mouse strain with restriction landmark genomic scanning (RLGS)."Mammal Genome.. 11. 356-359 (2000)

[文献書誌] Okazaki,Y.: "Normalization and subtraction of cap-trapper selected cDNAs to prepare full-length cDNA libraries for high-rate new gene discovery."Genome.Res.. 10. 1617-1630 (2000)

2000 年度実績報告書

大木操国立がんセンター研究所, 腫瘍ゲノム解析・情報研究部, 部長 (00158792)