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1997 Fiscal Year Final Research Report Summary

Function of the gene of Wiskott-Aldrich syndrome

Research Project

Project/Area Number 08457219
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionTohoku University

Principal Investigator

TSUCHIYA Shigeru  Tohoku University, Institute of Development, Aging, and Cancer, Associate Professor, 加齢医学研究所, 助教授 (30124605)

Co-Investigator(Kenkyū-buntansha) FUJIE Hiromi  Tohoku University, Institute of Development, Aging, and Cancer, Instructor, 加齢医学研究所, 助手 (60282000)
MINEGISHI Masayoshi  Tohoku University, Institute of Development, Aging, and Cancer, Instructor, 加齢医学研究所, 助手 (20211592)
KONNO Tasuke  Tohoku University, Institute of Development, Aging, and Cancer, Professor, 加齢医学研究所, 教授 (00004846)
Project Period (FY) 1996 – 1997
KeywordsWiskott-Aldrich syndrome / WASP / gene diagnosis / carrier detection / mouse anti-WASP monoclonal antibody
Research Abstract

1) Mutation of WASP gene in Wiskott-Aldrich syndrome (WAS)
Mutation of WASP gene was found in 5 cases of WAS.One base (G) deletion in the exon 1 in cases 1 and 2, TCA*TAA change in the exon 2 in case 3, CGA*TGA change in the exon 10 in case 4 and one base deletion (C) in the exon 10 in case 5 were found. These mutations were suggested to give rise to truncated WASP of 63,63,53,320 and 444 amino acids, respectively.
2) Detection of carrier status of WAS
Carriers in family members were detected by PCR-SSCP in case 1 and 2, by Xhol digestion in case 4 and by direct sequencing of PCR product in case 5.
3) Expression of WASPmRNA
WASPmRNA was expressed in mononuclear cells and granulocytes from healthy volunteers by Northern blot analysis. WASPmRNA was not detected in those from the patients. The mRNA was found in human leukemia sell lines in any origin, but not in human fibroblasts.
4) Production of polyclonal and monoclonal antibodies to WASP and detection of WASP by Western blot analysis
Polyclonal and monoclonal (5A5) antibodies were made to WASP peptides and proved to be specific to WASP.Using these antibodies WASP was shown not to express in mononuclear cells of the patients.
5) Flow cytometric detection of cytoplasmic WASP using the 5A5 monoclonal antibody
WASP was clearly negative in cytoplasm of the lymphoblastoid cell lines from the patients as compared in that from normal volunteers. However, strong nonspecific binding interfered the detection of WASP in monocytes, lymphocytes and granulocytes from the patients.
6) Case report of WAS who received bone marrow transplantation and subsequent EBV related B lymphoproliferative disease
The patient was treated by donor lymphocyte transfusion successfully.

  • Research Products

    (18 results)

All Other

All Publications (18 results)

  • [Publications] Y, Ohashi et al.: "Successful treatment of steroid resistant severe acute GVHD with 24-h continuous infusion of FK506." Bone Marrow Transplantation. 19. 625-627 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] N, Minegishi et al.: "Expression of GATA transcription factors in myelogenous and lymphoblastic leukemia cells." Int.J.Hematol.65. 239-249 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] S, Tsuchiya et al.: "Decrease in Thy-1 expression on peripheral CD34 positive cells induceds by G-CSF mobilization." Tohoku J.Exp.Med.182. 157-162 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] T, Futatani et al.: "Dificient expression of Bruton's tyrosine kinase monocytes from X-linked agammaglobulinemia as evaluated by a flowcytometric analysis" Blood. 91. 595-602 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] S, Kumaki: "Prologed secretion of IL-15 in patients with severe forms of acute graft-versus-host diseases after allogeneic bone marrow transplantation" Int.J.Hematol.in press. (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Y, Sasahara: "Epstein-Barr virus-associated lymphoproliferative disorder after unrelated bone marrow transplantation in a young child with WAS." Pediatr.Hematol.Oncol.in press. (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Sei Morita: "Cell surface c-kit receptors in human leukemia cell lines and pediatric leukemia : Selective preservation of c-kit expression on megakaryoblastic cell lines during adaptation to in vitro culture" Leukemia. 10. 102-105 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Sei Morita: "Isolation and characterization of two monoclonal antibodies that recognize different epitopes of the human c-kit receptor" Tohoku J.Exp.Med.178. 187-198 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Masayuki Itano: "IL-2 receptor gamma chain expression on CD34 positive hematopoietic progenitor cells from bone marrow and cord blood." Tohoku J.Exp.Med.178. 389-398 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kazama Hayao: "Proliferation of macrophage-lineage cells in the bone marrow, severe thymic atrophy, and extramedullary hematopoiesis of possible donor origin in an autopsy case of post-transplantation graft-versus-host disease." Bone Marrow Transplantation. 18. 437-441 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yoshiyuki Ohashi: "Mutations of the Epstein-Barr virus LMP-1 oncogene in a 10-year-old Japanese girl with masopharyngeal carcinoma" Acta Pediatr.85. 1376-1379 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yoshiyuki Ohashi: "Successful treatment of steroid resistant severe acute GVHD with 24-h continuous infusion of FK506." Bone Marrow Transplantation. 19. 625-657 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Naoko Minegishi: "Expression of GATA transcription factors in myelogenous and lymphoblastic leukemia cells." Int J Hematol.65. 239-249 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Shigeru Tsuchiya: "Decrease in Thy-1 expression on peripheral CD34 positive cells induced by GCSF mobilization." Tohoku J Exp.Med.182. 157-62 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Takeshi Futatani: "Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flowcytometric analysis and its clinical application to carrier detection" Blood. 91. 595-602 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Satoru Kumaki: "Prolonged secretion of IL-15 in patients with severe forms of acute graft-versus-host diseases after allogeneic bone marrow transplantation in children." Int.J.Hematol.(in press). (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yoji Sasahara: "Epstein-Barr virus-associated lymphoproliferative disorder after unrelated bone marrow transplantation in a young child with Wiskott-Aldrich syndrome." Pediatr.Hematol.Oncol.(in press). (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Takaaki Yambe Yanagisawa: "Detection of the PGP9.5 and tyrosine hydroxylase mRNAs for minimal residual neuroblastoma cells in bone marrow and peripheral blood." Tohoku J.Exp.Med.in press. (1998)

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

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Published: 1999-03-16  

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