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Analysis of molecular abnormalities in DiGeorge syndrome

Research Project

Project/Area Number 05670673
Research Category

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

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionOsaka University

Principal Investigator

KURAHASHI Hiroki  Osaka University, Medical School, Assistant Professor, 医学部, 助手 (30243215)

Co-Investigator(Kenkyū-buntansha) NISHISYO Isamu  Osaka University, Medical School, Associate Professor, 医学部, 助教授 (10228182)
Project Period (FY) 1993 – 1994
Project Status Completed (Fiscal Year 1994)
Budget Amount *help
¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 1994: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1993: ¥1,000,000 (Direct Cost: ¥1,000,000)
KeywordsDiGeorge syndrome(DGS) / conotruncal anomaly face / chromosome 22 / microdeletion / cDNA / leucine zipper / transcriptional factor / DiGeorge症候群 / コスミドライブラリー / マイクロダイセクション
Research Abstract

The microdeletion in DiGeorge syndrome(DGS) and conotruncal anomaly face syndrome has been localized at 22q11. In order to iosolate responsible gene for these syndromes, cosmid library was constructed from the somatic cell hybrid containing human intact chromosome 22 as its only human component. Another somatic cell hybrids carrying a different human chromosome translocation allowed us to assign some of these cosmids to 22q11, and then the cosmids which are located in the microdeletion were selected by dosage analysis. Further to isolate deleted clones, microclone library was constructed with the aid of microdissection of 22q11, and the deleted clones were also selected by dosage analysis. Screening of cosmid library and subsequent cosmid walking allowed us to obtain two cosmid contigs, whose order was identified by fluorescence in situ hybridization. By direct selection strategy, a 4.3kb cDNA was obtained from fetal brain cDNA library. Sequence analysis of the cDNA revealed an open reading frame encoding 552 amino acids which had several characteristics of DNA-binding proteins, such as basic-leucine-zipper domain. The gene, designated LZTR-1, which was transcribed in several essential fetal organs, proved to be hemizygously deleted in most patients, but not in GM00980, which has a deletion that demarcates the shortest region of overlap. However, several of its structural characteristics identifying it as transcriptional factor suggest that it plays a crucial role in embryogenesis and that haploinsufficiency of this gene may be partly related to development of DGS.

Report

(3 results)
  • 1994 Annual Research Report   Final Research Report Summary
  • 1993 Annual Research Report
  • Research Products

    (10 results)

All Other

All Publications (10 results)

  • [Publications] Hiroki Kurahashi: "Isolation and mapping of cosmid markers on human chromosome22,including one within the submicroscopically deleted region of DiGeorge syndrome." Hum Genet. 93. 248-254 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Hiroki Kurahashi: "Refined mapping of eight cosmid markers on human chromosome 22." Jpn J Hum Genet. 39. 243-248 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Hiroki Kurahashi: "Isolation and characterization of a novel gene deleted in DiGeorge syndrome." Hum Mol Genet. 4(in press). (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Hiroki Kurahashi: "Isolation and mapping of cosmid markers on human chromosome22, including one within the submicroscopically deleted region of DiGeorge syndrome." Hum Genet. 93. 248-254 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Hiroki Kurahashi: "Refined mapping of eight cosmid markers on human chromosome22." Jpn J Hum Genet. 39. 243-248 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Hiroki Kurahashi: "Isolation and characterization of a novel gene deleted in DiGeorge syndrome." Hum Mol Genet. 4 (in press). (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Hiroki Kurahashi: "Isolation and mapping of cosmid markers on human chromosome22,including one within the submicroscopically deleted region of DiGeorge syndrome." Hum Genet. 93. 248-254 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Hiroki Kurahashi: "Refined mapping of eight cosmid markers on human chromosome22." Jpn J Hum Genet. 39. 243-248 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Hiroki Kurahashi: "Isolaion and characterization of a novel gene deleted in DiGeorge syndrome." Hum Mol Genet. 4(in press). (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] H.Kurahashi et al.: "Isolation and mapping of cosmid markers on human chromosome 22,including one within the submicroscopically deleted region of DiGeorge syndrome." Human Genetics. (in press). (1994)

    • Related Report
      1993 Annual Research Report

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Published: 1993-04-01   Modified: 2016-04-21  

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