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1997 Fiscal Year Final Research Report Summary

Analysis of disease associated genes in polycystic kidney disease

Research Project

Project/Area Number 08671302
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Kidney internal medicine
Research InstitutionTokai University School of Medicine

Principal Investigator

ANDO Asako  Tokai University School of Medicine, Lecturer, 医学部, 講師 (40101935)

Co-Investigator(Kenkyū-buntansha) KATSUOKA Yohji  Osaka Medical College, Professor, 教授 (10051757)
Project Period (FY) 1996 – 1997
Keywordspolycystic kidney disease / HLA / HKE6 / Ke6 / alcohol dehydrogenase / disease associated gene / gene expression
Research Abstract

In order to identify a disease associated gene which is involved in the development of human polycystic kidney disease (PKD), we have constructed a physical map of the 250-kb segment and searched new genes within the segment on the centromeric side of the human major histocompatibility complex (MHC) including a human homologue of the mouse Ke6 gene, HKE6.. The mouse Ke6 gene is a candidate gene responsible for the development of PKD.From the analysis of a YAC clone and cosmid clones which span the centromeric side of the HLA class II region, 8 new genes were identified. The HKE6 gene (alcohol dehydrogenase-like gene) was mapped on the 100 kb centromeric side of the HLA-DP subregion. The genomic sequence of a 42,801 bp long region encoded by one cosmid clone in the RING1, HKE6 and HKE4 subregions was determined by the shotgun method. The HKE6 gene is composed of eight exons-and seven introns with the same exon-intron organization as observed in the mouse Ke6 gene. The 25 kb region proximal to the RING1 gene includes an extensive dense cluster of Alu repeats (about 1.2 Alu per kb) and no gene has been identified in this so far. A 1.0-kb faint message from the HKE6 gene was detected in the kidney of PKD patients. In these patients, no large-scale deletion or translocation, was detected using genomic Southern hybridization analysis by the HKE6 cDNA insert as a probe. Additionally, no nucleotide deletion, insertion, or base replacement was detected by the direct sequencing of PCR products from 640-bp of the 5' upstream region and exon 1-4 regions in the HKE6 gene.

  • Research Products

    (31 results)

All Other

All Publications (31 results)

  • [Publications] Fukagawa T.et al.: "Human pseudoautosomal boundary-like sequences : expression and involvement in evolutlonary formation of the present-day pseudoautosomal boundary of human sex chromosomes." Hum.Mol.Genet.5. 23-32 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Naruse T.K.et al.: "Analysis of allelic varlation of the HLA-DMB gene in Japanese by PCR-RFP as well as direct sequencing and identitlcation of a new DMB allele,DMB^★0105." Tissue Antigens. 48. 530-537 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Mizuki N.et al.: "Isolation of cDNA and genomic clones of a human ras-related GTP-binding protein (RHEB) gene and its chromosomal locallzarion of the long arm of chromosome 7,7q36." Genomics. 34. 114-118 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Ando M.et al.: "cDNA cloning of the human homologues of the mouse Ke4 and Ke6 genes at the centromeric end of the human MHC region." Genomics. 35. 600-602 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Ishihara M.et al.: "Genetic polymorphisms in the keratin-like S gene with in the human major histocompatibility complex and association analysis on the susceptibility to psoriasia vulgaris." Tissue Antigens. 48. 182-186 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Inoko H.et al.: "Cloning.sequencing and evolutionary analyses of human major histocompatibility complex (MHC) region." J.DNA Sequencing & Mapping. 7. 31-32 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Ando A.et al: "Triplet repeat polymorphism in the NOTCH4 gene with in the human major histocompatibility complex in a healthy population and patients with a salivary gland tumor in Japan." Tissue Antigens. 50. 66-70 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Sugaya K.et al.: "Gene organization of human NOTCH4 and (CTG) n polymorphism in this numan counterpart gene of mouse proto-oncogene int-3." Gene. 189. 235-244 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Mizuki N.et al.: "Nucleotide sequencing snalysis of the HLA class I region spanning the 237kb segment around the HLA-B and C genes." Genomics. 42. 55-66 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Kikuti Y.Y.et al.: "Physical mapping 220 kb centromeric of the human MHC and DNA sequence anlysis of the 43-kb segment including the RING1,HKE6,and HKE4 genes." Genomics. 42. 422-435 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Tenzen T.et al.: "Precise switching of DNA replication timing in the GC content transition area in the human major histocompatibility complex." Mol.Cell.Biol.17. 4043-4050 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Ando A et al.: "Triplet repeat polymorphism with in the NOTCH4 gene located near the junction of the HLA class II regions in narcolepsy." Tissue Antigens. 50. 645-649 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 安藤 麻子 他: "蛋白質核酸酵素別冊 ゲノムサイエンス" 共立出版, 2704-2713 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 勝岡 洋治: "領域別症候群シリーズ17.腎臓症候群(下)" 日本臨床社, 655-658 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 勝岡 洋治: "エッセンシャル泌尿器科学(2刷)" 医歯薬出版, 353-368 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Fukagawa T,et al.: "Human pseudoautosomal boundary-like sequences : expression and involvement in evolutionary formation of the present-day pseudoautosomal boundary of human sex chromosomes." Hum.Mol.Genet.5. 23-32 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Naruse TK,et al.: "Analysis of allelic variation of the HLA-DMB gene in Japanese by PCR-RFLP as well as direct sequencing and identification of a new DMB allele." Tissue Antigens. 48. 530-537 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Mizuki N,et al.: "Isolation of cDNA and genomic clones of a human ras-related GTP-binding protein (RHEB) gene and its chromosomal localization to the long arm of chromosome 7,7q36." Genomics. 34. 114-118 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ando A,et al.: "cDNA cloning of the human homologues of the mouse Ke4 and Ke6 genes at the centromeric end of the human MHC region." Genomics. 35. 600-602 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ishihara M,et al.: "Genetic polymorphisms in the keratin-like S gene within the human major histocompatibility complex and association analysis on the susceptibility to psoriasia vulgaris." Tissue Antigens. 48. 182-186 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Inoko H,et al.: "Cloning, sequencing and evolutionary analyzes of the human major histocompatibility complex (MHC) region." J.DNASequencing & Mapping. 7. 31-32 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ishihara M,et al.: "LMP7 polymorphisms in Japanese patients with sarcoidosis and Behcet's disease." Hum.Immunol.51. 103-105 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ueda H,et al.: "Management conditions during dialysis therapy influence the occurrence of complications after renal transplantation." Japanese Journal of Nephrology. 38. 445-459 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ando A,et al.: "Triplet repeat polymorphism in the NOTCH4 gene within the human major histocompatibility complex in a healthy population and patients with a salivary gland tumor in Japan." Tissue Antigens. 50. 66-70 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Sugaya K,et al.: "Gene organization of human NOTCH4 and (CTG) n polymorphism in this human counterpart gene of mouse proto-oncogene Int-3." Gene. 189. 235-244 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Mizuki N,et al.: "Nucleotide sequencing analysis of the HLA class I region spanning the 237 kb segment around the HLA-B and C genes." Genomics. 42. 55-66 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kikuti YY,et al.: "Physical mapping 220 kb centromeric of the human MHC and DNA sequence anlysis of the 43-kb segment including the RING1, HKE6, and HKE4 genes." Genomics. 42. 422-435 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Tenzen T,et al.: "Precise switching of DNA replication timing in the GC content transition area in the human major histocompatibility complex." Mol.Cell.Biol.17. 4043-4050 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ando A,et al.: "Triplet repeat polymorphism within the NOTCH4 gene located near the junction of the HLA class II regions in narcolepsy." Tissue Antigens. 50. 645-649 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Okamoto Y,et al.: "Controlled gene expression with a reverse tetracycline-regulated retroviral vector (RTRV) system." Biochem.Biophys.Res.Comm.234. 769-773 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Horiki T,et al.: "A case of systemic lupus erythematosus with variouw central and peripheral neurological desorders developed with motor paralytic bladder as a major manifestation." Jpn.J.Rhematology. 7. 61-68 (1997)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 1999-03-16  

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