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Study on the effects of chromosome mosaicism and X inactivation status on the phenotype of Turner syndrome and related disorders

Research Project

Project/Area Number 09670802
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionKYOTO UNIVERSITY

Principal Investigator

YORIFUJI Tohru  Kyoto University, Graduate School of Medicine, Assistant professor, 医学研究科, 助手 (60220779)

Project Period (FY) 1997 – 1998
Project Status Completed (Fiscal Year 1998)
Budget Amount *help
¥2,800,000 (Direct Cost: ¥2,800,000)
Fiscal Year 1998: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1997: ¥2,000,000 (Direct Cost: ¥2,000,000)
KeywordsTurner syndrome / X inactivation
Research Abstract

We analyzed parental origin and X-inactivation status of X-derived marker (mar(X)) or ring X (r(X)) chromosomes in six Turner syndrome patients. Two of these patients had mental retardation of unknown cause in addition to usual Turner syndrome phenotypes. By FISH analysis, the mar(X)/r(X) chromosomes of all patients retained the X centromere and the XIST locus at Xq13.2. By the polymorphic marker analysis, both patients with mental retardation were shown to have uniparental X-disomy while others had both maternal and paternal contribution of X chromosomes. By the RT-PCR analysis and the androgen receptor assay, it was shown that in one of these mentally retarded patients, the XIST on the mar(X) was not transcribed and consequently the mar(X) was not inactivated leading to functional disomy X.In the other patient, the XIST was transcribed but the r(X) appeared to be active by the androgen receptor assay. Our results suggest that uniparental disomy X may not be uncommon in mentally retarded patients with Turner syndrome. Functional disomy X seems to be the cause of mental retardation in these patients, although the underlying molecular basis could be diverse. In addition, even without unusual dysmorphic features, Turner syndrome patients with unexplained mental retardation need to be investigated for possible mosaicism including these mar(X)/r(X) chromosomes.

Report

(3 results)
  • 1998 Annual Research Report   Final Research Report Summary
  • 1997 Annual Research Report
  • Research Products

    (13 results)

All Other

All Publications (13 results)

  • [Publications] Yorifuji, T et al.: "Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derivol marker chromosomes" Journal of Medical Genetics. 35. 539-544 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yorifuji, T et al.: "Uniparental and functional disomy X in a mentally retarded patient with a 45,X/46,X, r(X) karyotype" Journal of Human Genetics. 43. 50-50 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yorifuji, T et al.: "X-inactivation pattern in the liver of a manifesting female with ornitnine transcarbamylase (OTC) deficiency" Clin Genetics. 54. 349-353 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yorifuji, T et al.: "Skewed X-inactivation in manifesting carriers of Duchenne muscular dystrophy" Clinical Genetics. 53. 102-107 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yorifuji, T et al.: "Relatively longer hand in patients with Ullrich-Turner syndrome" American Journal of Medical Genetics. 82. 254-256 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yorifuji, T.et al.: "Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes" J.Med.Genet. 35. 539-544 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yorifuji, T et al.: "Uniparental and functional disomy X in a mentally retarded patient with a 45, X/46, X,r (x) Karyotype" J.Hum.Genet. 43. 50 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Uematsu A,Yorifuji, T et al.: "Relatively longer hand in patients with Ullrich-Turner syndrome" Am.J.Med.Genet. 82. 254-256 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yorifuji, T.et al: "X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency" Clin Genet. 54. 349-353 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yoshioka, M., Yorifuji, T et al: "Skewed X-inactivation in manifesting carriers of Duchenne muscular dystrophy" Clin Genet. 53. 102-107 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yorifuji,T et al: "Uniparental and funccional X disomy in Turner Syndrome patients with unexplained mental retardation and X derived marker chromosomes" Journal of Medical Genetics. 35. 539-544 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Yorifuji,T et al.: "Uniparental and functional cusomy X in a mentally retarded patient with a 45,X/46,X,r(X) karyotype" Journal of Human Genetics. 43. 50-50 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Tohru Yorifuji: "Uniparental and functional X-disomy in Turner syndrome patients with unexplained mental retardation and X-derived marker chromosomes" Journal of Medical genetics. (in press).

    • Related Report
      1997 Annual Research Report

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Published: 1997-04-01   Modified: 2016-04-21  

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