2012 Fiscal Year Final Research Report
Identificaction and functional analysis of a novel fusion gene in embryonal rhabdomyosarcoma
| Project/Area Number |
22591166
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Kyoto Prefectural University of Medicine |
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Principal Investigator |
TSUCHIYA Kunihiko 京都府立医科大学, 大学院・医学研究科小児発達医学, 助教 (90381938)
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| Co-Investigator(Kenkyū-buntansha) |
HOSOI Hajime 京都府立医科大学, 大学院・医学研究科小児発達医学, 教授 (20238744)
IEHARA Tomoko 京都府立医科大学, 大学院・医学研究科小児発達医学, 講師 (20285266)
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| Project Period (FY) |
2010 – 2012
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| Keywords | 横紋筋肉腫 / 融合遺伝子 / LXXLL motif |
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| Research Abstract |
We analyzed a complex chromosomal translocation in a case of embryonal rhabdomyosarcoma (RMS) and identified the translocation as one that generates the fusion gene PAX3-NCOA2. Because the role of this translocation in RMS tumorigenesis is unknown, we established two types of stable mouse myoblast C2C12 cell lines expressing PAX3-NCOA2 and PAX3-FKHR, respectively . Compared to control cells, PAX3-NCOA2 cells grew faster, were more motile, were less anchorage dependent and showed greater transcriptional activation of the PAX3 consensus binding site. These results indicate that the PAX3-NCOA2 fusion gene has a dual role in the tumorigenesis of RMS to prome the proliferation and to inhibit the myogenic differentiation.
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