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2000 Fiscal Year Final Research Report Summary

The genetic inheritance of Gibert's syndrome

Research Project

Project/Area Number 09671088
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field 内分泌・代謝学
Research InstitutionInstitute for Develomental Research Aichi Human Service Center

Principal Investigator

AONO Sachiko  Institute for Develomental Research Aichi Human Service Center, Department of Perinatology, Senior Researcher, 周生期学部, 主任研究員 (20231780)

Co-Investigator(Kenkyū-buntansha) KAWASHIMA Sachiko  Institute for Develomental Research Aichi Human Service Center, Department of Perinatology, Research Assistant, 周生期学部, 助手
Project Period (FY) 1997 – 2000
KeywordsGilbert's syndrome / Choronic hyperbilirubinemia / Bilirubin : UDP-glucuronosyltransferase / Missense mutation / TATA box / Bilirubin / Hyperbilirubinemia / Crigler-Najjar syndrome
Research Abstract

Patients with Gilbert's syndrome have mild, chronic unconjugated hyperbilirubinemia. Based on the bilirubin level in the blood, 3 to 10 percent of the general population are estimated to have Gilbert's syndrome. Hepatic glucuronidating activity, which is essential for efficient biliary excretion of bilirubin, is approximately 30 percent of normal in patients with Gilbert's syndrome. Genetic analysis showed that heterozygous mutation in bilirubin : UDP-glucuronosyltransferase gene was observed in patients with Gilbert's syndrome (Aono et al, Lancet, 345, 958-959, 1995), suggesting the dominant trait of inheritance. On the other hand, Bosma et al. (New Engl. J.Med., 333, 1171-1175, 1995) reported a homozygous abnormality in the promoter region of the gene (extra TA in TATA box) in patients with Gilbert's syndrome, indicating the recessive trait of the syndrome. In order to clarify the mechanism underlying the genetic inheritance of Gilbert's syndrome, we carried out a futther genetic analysis of patients and their families. All female patients so far examined had abnormalities on the both alleles. Some male patients also had abnormalities on the both alleles. However, interestingly enough, the rest of the male patients had abnormalities only in either allele. These findings suggest that other factor(s) besides the gene abnormality is necessary for the complete manifestation of the syndrome in male.

  • Research Products

    (19 results)

All Other

All Publications (19 results)

  • [Publications] 青野幸子: "神経接着分子NCAMのアイソフォーム"神経化学. 36. 36-40 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Matsui,F., et al.: "Occurrence of neurocan-N,the N-terminal half of neurocan, in a perineuronal net in the adult rat cerebrum"Brain Research. 790. 45-51 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Oohira,A. et al.: "Transmembrane chodroitin sulfate proteoglycans in the developing brain : Involvement in signal transduction as well as cell adhesion"Connective Tissue. 30. 49-56 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Yasuda,Y., et al.: "Cloning and chromosomal mapping of the human gene of neuroglycan C (NGC), a neural transmembrane chondroitin sulfate proteoglycan with an EGF module"Neuroscience Research. 32. 313-322 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Aono,S., et al.: "Genomic organization and expression pattern of mouse neuroglycan C in the cerebellar development"Journal of Biological Chemistry. 275. 337-342 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Aono,S., et al.: "Neuroglycan C, a part-time proteoglycan, in the central nervous system"Connective Tissue. 32. 45-48 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Ono,T., et al.: "Comparative mapping of seven genes in mouse, rat and Chinese hamster chromosomes by fluorescence in situ hybridization"Cytogenetetics and Cell Genetetics. 89. 209-213 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Oohira,A., et al.: "Molecular interactions of neural chondroitin sulfate proteoglycans in the brain development"Archives of Biochemistry and Biophysics. 374. 24-34 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Tokita,Y., et al.: "Regulation of neuregulin expression in the injured rat brain and cultured astrocytes"Journal of Neuroscience. 21. 1257-1264 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 慶野宏臣 他: "遺伝子治療開発研究ハンドブックGunnラット(Crigler-Najjar症候群I型モデル動物)"エヌ・ティー・エス社、日本遺伝子治療学会編. (1021-1023)1061 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Aono, S.: "Isoforms of NCAM, a neural adhesion molecule. (in Japanese)"Bull. Jap. Neurochem. Soc.. 36. 36-40 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Matsui, F., et al.: "Occurrence of neurocan-N, the N-terminal half of neurocan, in a perineuronal net in the adult rat cerebrum."Brain Res.. 790. 45-51 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Oohira, A., et al.: "Transmembrane chodroitin sulfate proteoglycans in the developing brain : Involvement in signal transduction as well as cell adhesion."Connect. Tissue. 30. 49-56 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yasuda, Y., et al.: "Cloning and chromosomal mapping of the human gene of neuroglycan C (NGC), a neural transmembrane chondroitin sulfate proteoglycan with an EGF module."Neurosci. Res.. 32. 313-322 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Aono, S., et al.: "Genomic organization and expression pattern of mouse neuroglycan C in the cerebellar development."J.Biol. Chem.. 275. 337-342 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Aono, S., et al.: "Neuroglycan C, a part-time proteoglycan, in the central nervous system."Connect. Tissue. 32. 45-48 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ono, T., et al.: "Comparative mapping of seven genes in mouse, rat and Chinese hamster chromosomes by fluorescence in situ hybridization."Cytogenet. Cell Genet.. 89. 209-213 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Oohira, A., et al.: "Molecular interactions of neural chondroitin sulfate proteoglycans in the brain davelopment."Arch. Biochem. Biophys.. 374. 24-34 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Tokita, Y., et al.: "Regulation of neuregulin expression in the injured rat brain and cultured astrocytes."J.Neurosci.. 21. 1257-1264

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

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Published: 2002-03-26  

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