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1999 Fiscal Year Final Research Report Summary

Cloning of responsible genes causing myelodysplasia in myelodysplastic syndrome

Research Project

Project/Area Number 09671144
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Hematology
Research InstitutionResearch Institute, International Medical Center of Japan

Principal Investigator

SATO Yuko  Division of Molecular Cytohgenetics, Department of Clinical Pathology, 臨床病理部・超微細構造研究室, 室長 (10137713)

Project Period (FY) 1997 – 1999
Keywordsmyelodysplastic syndrome / translocation t(1 ; 3)(p36 ; q21) / FISH / BAC library / 1p36 breakpoint / gene cloning / Molecular cytogenetics / PRDM16
Research Abstract

Using FISH with 13 cosmid probes (tel--FB12-CA5-G7-FD2- CB1 -ED8-FD9-G32-AE3-G50-AD8-GG4-PEBP2_C--cen), we have determined the 1p36 breakpoint of t(1 ; 3)(p36 ; q21) translocation in four myelodysplastic syndrome (MDS) patients and one adult-type CML patient : the breakpoint was between CA5 and G7 (1p36.3) in four MDS patients and between GG4-PEBP2αC (1p36.1) in the CML patient. This indicated that the 1p36 breakpoint was different between different disorders. As a next step, we made a contig map between CA5 and G7 using a total of 33 BAC clones. The breakpoints of three MDS patients were found in PAC163G9 clone, and that of the remaining MDS patient was found in BAC737N8, suggesting that the 1p36 breakpoint in MDS may be scattered in 340 kb region at most, since BAC clone generally cover ca 170kb. Now, we are searching all the genes contained in the two clones through DNA sequencing to find out the responsible gene for MDS.
On the other hand, Mochizuki, et al. reported that they found out responsible genes for t(1 ; 3)(p36 ; q21) translocation (Mochizuki N, et al : A novel gene, MEL1, mapped to 1p36.3 is highly homologous to the MDS/EVI1 gene and is transcriptionally activated in t(1 ; 3)(p36 ; q21)-positive leukemia cells. Blood 96 : 3209, 2000) : MEL1 gene located adjacent to the 1p36 breakpoint was transcriptionally activated by the promoter of Evi1 gene located adjacent to the 3q21 breakpoint only in t(1 ; 3)(p36 ; q21)-positive leukemia cells. We also studied whether the MEL1 gene was expressed in two MDS patients of our series. We found that PRDM16 gene, not MEL1, which shows highly homology to MEL1 with only difference in 3' end was highly expressed although this gene was not expressed in any other cell lines (in preparation).

  • Research Products

    (23 results)

All Other

All Publications (23 results)

  • [Publications] Iijima Y,Sato Y, et al.: "A new partner gene of the ETV6/TEL, ARG (ABL related gene, or ABL2) cloned in a AML-M3 cell line with t(1;12)(q25;p13)."Blood. 95. 2126-2131 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Eguchi M, Sato Y, et al.: "Fusion of the ETV6 to neutrophin-3 receptor TrkC in acute myeloid leukemia with t(12;15)(p13;q25). Blood 93:1355-1363,1999."Blood. 93. 1355-1363 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Suto Y,Sato Y, et al.: "TEL is fused to a previously unknown gene, STL,in a t(6;12)(q23;p13) translocation in a patient with acute lymphoblastic leukemia."Genes Chromosom Cancer. 18. 254-268 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Sato Y, et al.: "Indentification of pericentric inversion 12, inv(12)(p13.1q11) by fluorescence in situ hybridization in a patient with acute myeloid leukemia (AML-M6)."Cancer Genet Cytogenet. 97. 157-160 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Sato Y, et al.: "Heterogeneity in the breakpoints in balanced rearrangements involving band 12p13 in hematologic malignancies identified by FISH : TEL (ETV6) is involved in only one-half."Blood. 97. 4886-4893 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 佐藤裕子: "転座型白血病の遺伝子診断"現代診療. 31. 95-106 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 佐藤裕子: "血液病の染色体検査〜自動化の試み、FISH法なども含めて"日常診療と血液. 8. 297-304 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 佐藤裕子: "in situ hybridization:微小染色体構造解析への応用"臨床検査. 42. 1017-1022 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 佐藤裕子: "Fluorescence in situ hybridization(FISH)法による遺伝子マッピングとゲノム異常の解析"Diabetes Frontier. 9. 327-332 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 佐藤裕子: "染色体-その分析と臨床応用"細胞. 42. 423-424 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 佐藤裕子: "染色体異常の新しい解析"血液・免疫・腫瘍. 3. 873-882 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 佐藤裕子: "ETV6(TEL)遺伝子とヒト白血病"最新医学. 52. 414-426 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 園山政行,佐藤裕子: "染色体検査の理解にむけて【1】-細胞培養から染色体標本スライドの作成まで-"Modern Media. 43. 82-91 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 園山政行,佐藤裕子: "染色体検査の理解にむけて【2】-染色体分染法(1)-"Modern Media. 43. 217-227 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 園山政行,佐藤裕子: "染色体検査の理解にむけて【3】-染色体分染法(2)-"Modern Media. 43. 396-404 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Sato Y, Rowley JD: "Chromosomal abnormalities in childhood malignant diseases, In Hematology of infancy and childhood. Nathan DG, Orkin SH (eds)"W.B.Saunders Company, Philadelphia. 1147-1182 1914 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 佐藤裕子: "「造血器腫瘍と染色体異常」造血幹細胞-分子から臨床まで-三浦恭定編集"南江堂、東京. 134-142 272 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Iijima Y, Ito T, Oikawa T, Eguchi M, Eguchi-Ishimae M, Kamada N, Kishi K, Asano S, Sakaki Y, Sao Y: "A new ETV6 (TEL) partner gene, ARG (ABL related gene or ABL2) identified in a AML-M3 cell line with the t(1 ; 12)(q25 ; p13) translocation."Blood. 95. 2126-2131 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Eguchi M, Eguchi-Ishimae M, Tojo A, Suzuki K, Morishita K, Sato Y, Kudo S, Tanaka K, Nagamura F, Asano S, Kamada N: "Fusion of the ETV6 to neutrophin-3 receptor TrkC in acute myeloid leukemia with t(12 ; 15)(p13 ; q25)."Blood. 93. 1355-1363 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Suto Y, Sato Y, Smith SD, Rowley JD, Bohlander SK: "TEL is fused to a previously unknown gene, STL, in a t(6 ; 12)(q23 ; p13)translocation in a patient with acute lymphoblastic leukemia."Genes Chromosom Cancer. 18. 254-268 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Sato Y, Bohlander SK, Kobayashi H, Suto Y, Davis EM, Le Beau MM, Le Beau MM, Rowley JD: "Identification of pericentric inversion 12, inv (12)(p13.1q11) by fluorescence in situ hybridization in a patient with acute myeloid leukemia (AML-M6)."Cancer Genet Cytogenet. 97. 157-160 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Sato Y, Bohlander SK, Kobayashi H, Reshmi S, Suto Y, Davis EM, Espinosa III R, Hoopes R, Montgomery KT, Kucherlapati RS, Le Beau MM, Rowley JD: "Heterogeneity in the breakpoints in balanced rearrangements involving band 12p13 in hematologic malignancies identified by FISH : TEL (ETV6) is involved in only one-half."Blood. 90. 4886-4893 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Sato Y, Rowley JD: "Chromosomal abnormalities in childhood malignant diseases. In Hematology of infancy and childhood. Nathan DG, Orkin SH (eds), W.B.Saunders Company."Philadelphia. 1147-1182 (1997)

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

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Published: 2002-03-26  

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