Genomic analysis of recurrent unbalanced translocation t(1 ; 7)(q10 ; p10) in myelodysplastic syndrome

2001 Fiscal Year Final Research Report Summary

• Project/Area Number: 12670974
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Hematology
• Research Institution: The University of Tokyo
• Principal Investigator: OGAWA Seishi Faculty of Medicin, The University of Tokyo, assistant professor, 医学部・附属病院, 助手 (60292900)
• Co-Investigator(Kenkyū-buntansha): KUROKAWA Mineo Faculty of Medicin, The University of Tokyo, assistant professor, 医学部・附属病院, 助手 (80312320) ; AOKI Katsumi Faculty of Medicin, The University of Tokyo, assistant professor, 医学部・附属病院, 助手 (40291322)
• Project Period (FY): 2000 – 2001
• Keywords: t(l ; 7) (q10 ; p10) / myelodysplastic syndrome / breakpoint / alphoid sequence / centromere / FISH / chromosome 1 / chromosome 7

Research Abstract

The unbalanced translocation t(l ; 7)(qlO ; plO) is a recurrent chromosomal abnormality found in myelodysplastic syndrome (MDS) and acute myelocytic leukemia with prior histories of chemoradiotherapy. We investigated the breakpoints of this translocation using two-color FISH analysis in order to clarify its roles in pathogenesis of MDS. It was revealed that the translocation occurred between two clusters of centromere alphoid sequences recognized by D1Z7 on chromosome 1 and D7Z1 on chromosome 7. Based on the large variations of relative intensities of FISH signals of these alphoid signals on the derivative chromosome and the corresponding normal chromosome, however, the location the breakpoint within each alphoid cluster may largely differs among patients, indicating that it is loss of 7q and/or gain of 1q materials, rather than the abnormalities of a specific gene near the breakpoint, that might be important for the pathogenesis of MDS/AML harboring this translocation.

Research Products

• [Publications] 半下石 明 et al.: "Mutations of Chk2 in Primary Hematopoietic Neoplasms"Blood. (in press).
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] 今井 陽一 et al.: "Mutations of the Smad4 gene in acute myelogeneous leukemia and their functional implications in leukemogenesis"Oncogene. 20. 88-96 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] 上 昌広 et al.: "Use of real-time PCR on blood samples for diagnosis of invasive aspergillosis"Clinical Infections Diseases. 33. 1504-1512 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] 王 莉莉 et al.: "The breakpoint analysis of unbalanced t(1;7)(q10;p10) translocation"Exp. Hematology. 29. 14-14 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Hangaishi A, Ogawa S, Qiao Y, Wang L, Hosoya N, Yuji K, Imai Y, Takeuchi K, Miyawaki S, Hirai H: "Mutations of Chk2 in primary hematopoietic neoplasms"Blood. inpress.
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Wang L, Ogawa S, Hangaishi A, Ohyashiki K, Mizoguchi H, Hirai H: "The breakpoint analysis of unbalanced t(l ; 7)(q10 ; p10) translocation. Exp"Hematology. 29. 14 (2001)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Kami M, Fukui T, Ogawa S, Kazuyama Y, Machida U, Tanaka Y, Kanda Y, Kashima T, Yamazaki Y, Hamaki T, Mori S, Akiyama H, Mutou Y, Sakamaki H, Osumi K, Kimura S, Hirai H: "Use of real-time PCR on blood samples for diagnosis of invasive aspergillosis"Clinical Infectious Diseases. 33. 1504-12 (2001)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Imai Y, Kurokawa M, Izutsu K, Hangaishi A, Maki K, Ogawa S, Chiba S, Mitani K, Hirai H: "Mutations of the Smad4 gene in acute myelogeneous leukemia and their functional implications in leukemogenesis"Oncogene. 20(1). 88-96 (2001)
  • Description: 「研究成果報告書概要(欧文)」より