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1993 Fiscal Year Final Research Report Summary

Molecular studies on the pathogenesis of idiopathic short stature : Analysis of a growth gene(s) on the X chromosome short arm.

Research Project

Project/Area Number 04454280
Research Category

Grant-in-Aid for General Scientific Research (B)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionKeio University

Principal Investigator

MATUO Nobutake  Keio University, Pediatrics, Professor, 医学部・小児科, 教授 (50173802)

Co-Investigator(Kenkyū-buntansha) ANZO Makoto  Keio University, Pediatrics, Assistant, 医学部・小児科, 助手 (80193100)
OGATA Tsutomu  Keio University, Pediatrics, Assistant, 医学部・小児科, 助手 (40169173)
Project Period (FY) 1992 – 1993
KeywordsShort stature / Sex chromosome / Pseudoautosomal region / Growth gene / Genotype-phenotype correlation / Gene mapping
Research Abstract

1.Chromosomal localisation of a pseudoautosomal growth gene(s)
Molecular studies in a girl with short stature and rearranged X chromosome have assigned a growth gene(s) to the distal part of the pseudoautosomal region (an Xp-Yp homologous region). Furthermore, on the basis of genotype-phenotype correlations in six patients woth a partial monosomy of the pseudoautosomal region, we have mapped the growth bene(s) to the region between DXYS20 and DXYS15, which spans about 500 kb. In support of the presence of the pseudoautosomal growth gene(s), we have clarified that adult height in patients with sex chromosome aberrations is primarily determined by the dosage effect of the pseudoautosomal and the Y-specific growth genes and by the degree of growth disadvantage caused by quantitative alteration of euchromatic or non-inactivated region. Now, the positional cloning of the pseudoautosomal growth gene(s) is under progress.
2. Molecular studies in patients with idiopathic short stature
Molecular studies in about 30 patients with idiopathic short stature detected no deletion in the critical region for the growth gene(s)(DXYS20-DXYS15). These patients will be examined for a possible mutations of the pseudoautosomal growth gene(s), when the growth gene(s) has been cloned.

  • Research Products

    (11 results)

All Other

All Publications (11 results)

  • [Publications] Ogata T,et al.: "Short stature in a girl with a terminal Xp deletion distal to DXYS15:localisation of a growth gene(s) in the pseudoautosomal region." Journal of Medical Genetics. 29. 455-459 (1992)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Ogata T,Matsuo N.: "Comparison of adult height between patients with XX and XY gonadal dysgenesis:support for a Y specific growth gene(s)." Journal of Medical Genetics. 29. 539-541 (1992)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Ogata T,et al.: "Chromosomal localisation of a pseudoautosomal growth gene(s)." Journal of Medical Genetics. 29. 624-628 (1992)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Ogata T,Matsuo N.: "Sex chromosome aberrations and stature:deduction of the principal factors involved in the determination of adult height." Human Genetics. 91. 551-562 (1993)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Ogata T,Matsuo N.: "Turner syndrome and female sex chromsome aberrations:deduction of the principal factors involved in the development of clinical features." Human Genetics. (submitted for publication).

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Ogata T, Goodfellow P, Petit C, Aya M, Matsuo N: "Short stature in a girl with a terminal Xp deletion distal to DXYS15 : localisation of a growth gene(s) in the pseudoautosomal region" Journal of Medical Genetics. 29. 455-459 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ogata T, Matsuo N.: "Comparison of adult height between patients with XX and XY gonadal dysgenesis : support for a Y specific growth gene(s)." Journal of Medical Genetics. 29. 539-541 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ogata T, Petit C, Rappold G, Matsuo N, Matsumoto T, Goodfellow P: "Chromosomal localisation of a pseudoautosomal growth gene(s)." Journal of Medical Genetics. 29. 624-628 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ogata T, Matsuo N: "Sex chromosome aberrations and stature : deduction of the principal factors involved in the determination of adult height." Human Genetics. 91. 551-562 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ogata T, Matsuo N: "Turner syndrome and female sex chromsome aberrations : deduction of the principal factors involved in the development of clinical features." Human Genetics. (submitted for publication).

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ogata T, Matsuo N: Mechanisms leading to statural changes in patients with sex chromosome aberrations.Hibi I, Takano K, eds.Basic and clinical approach to Turner syndrome. Amsterdam/London? New York/Tokyo :, 7-16 (1993)

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

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Published: 1995-03-27  

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