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Positional cloning of the gene causing Dyschromatosis Symmetrica Hereditaria

Research Project

Project/Area Number 14570805
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Dermatology
Research InstitutionNagoya University

Principal Investigator

TOMITA Yasushi  Nagoya University, Graduate School of Medicine, Professor, 大学院・医学系研究科, 教授 (70108512)

Co-Investigator(Kenkyū-buntansha) MIYAMURA Yoshinori  Nagoya University, Graduate School of Medicine, Research Associate, 大学院・医学系研究科, 助手 (50272034)
SUZUKI Tamio  Nagoya University, University Hospital, Assistant Professor, 医学部附属病院, 講師 (30206502)
Project Period (FY) 2002 – 2003
Project Status Completed (Fiscal Year 2003)
Budget Amount *help
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2003: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 2002: ¥2,500,000 (Direct Cost: ¥2,500,000)
KeywordsDyschoromatosis / Positional cloning / SNP / Direct Sequence / Adenosine deaminase / SUP / 候補領域
Research Abstract

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary disorder, first reported by Toyama in 1910. It is characterized by a mixture of hypopigmented and hyperpigmented macules of various sizes on the backs of the hands and feet. To DSH locus, we tried an entire genome-wide scan using 343 microsatellite markers for linkage analysis and haplotype analysis was carried out in the three families with DSH, and the results suggested that the gene responsible for DSH lies in the interval of approximately 500kb which was bound proximally by the IL6R gene and distally by the KCNN3 gene at chromosome 1q21.3. Between those two genes, seven genes have been mapped on the Entrez Map View, NCBI web site. Four affected individuals from each of Pedigrees 1,2 and 3,and of Pedigree 4 were screened by SSCP, which revealed mutant heteroduplexes made by hybridizing PCR fragments of The RNA-specific adenosine deaminase (DSRAD) genes. Direct sequence analysis of the PCR products showed that they were heterozygous for mutations of R474X, L923P, K952X and F11655 in Pedigrees 1,2,3 and 4,respectively. The mutations involved in causing DSH have been identified in the gene that encodes DSRAD as the disease gene.

Report

(3 results)
  • 2003 Annual Research Report   Final Research Report Summary
  • 2002 Annual Research Report
  • Research Products

    (15 results)

All Other

All Publications (15 results)

  • [Publications] Y.Miyamura et al.: "Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria."Am.J.Hum.Genet.. 73. 693-699 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] M.Yoshida et al.: "Histamine is involved in Ultraviolet B-induced Pigmentation of Guinea Pig Skin."J.Invest.Dermatol.. 118・2. 255-260 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] I.Suzuki et al.: "Increase of Pro-opiomelanocortin mRNA Prior to Tyrosinase, Tyrosinase-Related Protein 1, Dopachrome Tautomerase, Pmel-17/gp100, and P-Protein mRNA in Human Skin After Ultraviolet B Irradiation."J.Invest.Dermatol.. 118・1. 73-78 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] M.Tanita et al.: "Polymorphic sequences of the tyrosinase gene : allele analysis on 16 OCA1 patients in Japan indicate that three polymorphic sequences in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis."J.Hum.Genet.. 47・1. 1-6 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] E.Nakamura et al.: "A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1)"J.Dermatol.Sci.. 28・2. 102-105 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Y.Miyamura et al.: "Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria."Am.J.Hum.Genet.. 73. 693-699 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] M.Yoshida et al.: "Histamine is involved in Ultraviolet B-induced Pigmentation of Guinea Pig Skin."J.Invest.Dermatol.. 118. 255-260 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] I.Suzuki et al.: "Increase of Pro-opiomelanocortin mRNA Prior to Tyrosinase, Tyrosinase-Related Protein 1,Dopachrome Tautomerase, Pme1-17/gp 100,and P-Protein mRNA in Human Skin After Ultraviolet B Irradiation."J.Invest.Dermatol.. 118. 73-78 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] M.Tanita et al.: "Polymorphic sequences of the tyrosinase gene : allele analysis on 16 OCA1 patients in Japan indicate that three polymorphic sequences in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis."J.Hum.Genet.. 47. 1-6 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] E.Nakamura et al.: "A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1)"J.Dermatol.Sci.. 28. 102-105 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Y.Miyamura et al.: "Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria"Am.J.Hum.Genet.. 73. 693-699 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] M.yoshida et al.: "Histamine is involved in Ultraviolet B-induced Pigmentation of Guinea Pig Skla"J. Invest. Dermatol. 118・2. 255-260 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] I.Suzuki et al.: "Messenger RNA levels of melanogenesis-associated genes in human skin and their responses to UV Irradiation"J. Invest. Dermatol. 118・1. 73-78 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Tanita M, et al.: "Polymorphic sequences of the tyrosinase gene: Allele analysis on 16 OCA patients in Japan indicated that three polymorphic sequence in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis"J. Hum. Gemet.. 47・1. 1-6 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] E.Nakamura, et al.: "A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1(OCA1)"J. Dermatol. Sci.. 28・2. 106-118 (2002)

    • Related Report
      2002 Annual Research Report

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Published: 2002-04-01   Modified: 2016-04-21  

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