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病因遺伝子の単離と解析

Research Project

Project/Area Number 04260104
Research Category

Grant-in-Aid for Scientific Research on Priority Areas

Allocation TypeSingle-year Grants
Research InstitutionJichi Medical University

Principal Investigator

香川 靖雄  自治医科大学, 医学部, 教授 (30048962)

Co-Investigator(Kenkyū-buntansha) 新川 詔夫  長崎大学, 医学部, 教授 (00111170)
中村 祐輔  癌研究会癌研究所, 生化学部, 部長 (70217909)
岡山 博人  東京大学, 医学部, 教授 (40111950)
森 正敬  熊本大学, 医学部, 教授 (40009650)
多田 啓也 (夛田 啓也)  東北大学, 医学部, 教授 (20046907)
Project Period (FY) 1992 – 1993
Project Status Completed (Fiscal Year 1993)
Budget Amount *help
¥130,000,000 (Direct Cost: ¥130,000,000)
Fiscal Year 1993: ¥70,000,000 (Direct Cost: ¥70,000,000)
Fiscal Year 1992: ¥60,000,000 (Direct Cost: ¥60,000,000)
KeywordsGenetic disease / Positional Cloning / Machado-Joseph Disease / Fragile X Syndrome / Amyloid Polyneuropathy / Propionidc acidemia / mitochondrial / Colon Calncer myopathy / Positional cloning / in situ hybridization / mitochondrial myopathy / nonretotic / P^0cells / aronatase doficienuy / breast cancer
Research Abstract

病因遺伝子の単離:中村班員は多数の遺伝子マーカーを用い、乳癌、大腸癌(Human Genet.91:307,1993)、肝癌(Cancer71:3859,1993)、多発性内分泌腺腫瘍などの原因遺伝子を解明した。班長等は辻班員等と連鎖解析でmicrosatelliteを用い、Machado-Joseph病の座位を14q24.3-q32に決定した(Nature Genetics 4:300,1993)。清水班員はEwing肉腫などを、新川班員もWaardenburg症候群を解明した(Genomics 16:169,1993)。岡山班員の開発した発現ベクターのpcD2(Biotechnology 24:270,1993)を用いて折居班員はZellweger症候群の病因遺伝子を単離した。amiloidopolineuropathyの病因として班長らはgelsolinの変異を単離し(Ann.Neurol.33:57,1993)、三輪班員も溶血性貧血の病因遺伝子を単離した(Blood 81:2439,1993)。
病因遺伝子の解析:木村班員は肥大性心筋症のbetaミオシン重鎖遺伝子変異を解析した。森班員、佐伯班員は尿素回路酵素群の遺伝子の制御機構を明らかにした(J.Biol.Chem.268:11125,1993)。班長は組織特異的なalternative splicingを解析した(J.Biol.Chem.268,2450,1993)。転写要素の上位の情報伝達系で重要な低分子量Gタンパク質の解析は、neurofibroomatosisやchoroidenreiaの解明に重要であるので、特に高井(J.Biol.chem.268:3025,1993)、東江班員が担当した。原田班員はリガンド系のaromatase変異を解明した。林班員はmt(ミトコンドリア)のDNA欠損のrho°株を開発し、班長と共に老化の遺伝子変異がmtDNAにとらない事を示した(J.Biol.Chem.269印刷中、1994)。mtDNAの変異はその集中する臓器によって多様な臨床像をしめす。班長らはこの変異が脳下垂体に集中した症例を解明した(J.Neurol.Sci.120:174,1993)。岡班員が示したように病尿病の600万人の患者中少なくとも2%がmtDNA変異の膵臓への集中による事が明らかになったので、mtDNAによる遺伝子病は我国最大の遺伝子病となった。

Report

(2 results)
  • 1993 Annual Research Report
  • 1992 Annual Research Report
  • Research Products

    (16 results)

All Other

All Publications (16 results)

  • [Publications] Takiyama.Y.,Kagawa,Y.rt al.: "The gene for Machado-Joseph disease maps to human chromosome 14q." Nature Genetics. 4. 300-304 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Sunada,Y.,Kagawa,Y.et al.: "Inherited amyloid polyneuropathy type IV (gelsolin variant)in Japanese family" Annals Neurology. 33. 57-62 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Ohura,T.,Tada,K,et al.: "The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele." Human Genetics. 92. 397-402 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Hollam,S.,Miswa,S.et al.: "Hereditary triosephosphate isomerade(TPI)deficiency: Two Severly affected brothers one with and one without neurolog-symptoms." Human Genetics. 92. 486-490 (1992)

    • Related Report
      1993 Annual Research Report
  • [Publications] Yamaguchi,M.Niikawa,N.et al.: "Prenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence." Clinical Genetics. 44. 169-172 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Saga,M.,Shimizu,N.et al.: "A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa." Human Genetics. 92. 519-521 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 香川靖雄: "南山堂" 生体膜と疾患の分子生物学. 560 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 香川靖夫 他: "医学書院" 遺伝と臨床検査 臨床検査特集号. 242 (1992)

    • Related Report
      1993 Annual Research Report
  • [Publications] Harada,N.,Ogawa,H.,Shozu,M.et al.: "Biochemical and Molecular genetic analyses on Placental aromatase (P-450arom) deficiency." Journal of Biolocical chemistry. 267. 4781-4785 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Horiuchi,M.,Saheki,T.et al.: "Carnitine administration to juvenile visceral steatosis mice corrects the suppressed expression of urea cycle enzymes by norma lizing their transcription." Journal of Biological Chemistry. 267. 5032-5035 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Naritomi,K.,Niikawa,N.et al.: "Combined Goltz and Aicardi syndromes in a terminal Xp deletion:Are they a contiguous gene syndrome?" American Journal of Medical Genetics. 43. 839-842 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Miyoshi,Y.,Nakamura,Y.et al.: "Germline mutations of the APC gene in 53 familial adenomatous polyposis patients." Procedings of National Academy of Science USA. 89. 4452-4456 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Uchino,T.,Mori,M.et al.: "Three novel mutations in the liver-type arginase gene in three unrelated japanese patients with argininemia." American Journal of Human Genetics. 51. 1406-1412 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Fujii,H.,Miwa,S.et al.: "A single nucleotide substitution in the phosphoglyce-rate kinase(PGK)-1 gene occrred after the separation of PGK-1 and PGK-2." Human Genetics. 89. 583 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 香川 靖雄: "生体膜と疾患の分子生物学" 南山堂, 577 (1993)

    • Related Report
      1992 Annual Research Report
  • [Publications] 香川 靖雄: "ミトコンドリア遺伝子とその疾患" 秀潤社細胞工学特集, 74 (1992)

    • Related Report
      1992 Annual Research Report

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Published: 1992-04-01   Modified: 2016-04-21  

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