2017 Fiscal Year Final Research Report
Identification of candidate genes on long arm of chrosome 20, which are involved in molecular pathogenesis of myelodysplastic syndromes
| Project/Area Number |
15K08320
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pathological medical chemistry
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| Research Institution | Tokyo Women's Medical University |
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Principal Investigator |
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Keywords | 骨髄異形成症候群 / 染色体異常 / がん抑制遺伝子 / 20番染色体長腕欠失 |
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| Outline of Final Research Achievements |
In this study, we attempted to identify and to characterize genes which are located on long arm of chromosome 20, and are involved in molecular pathogenesis of myelodysplastic syndromes (MDS). We analyzed selected 32 genes. No recurrent mutations were found in all coding regions of 32 genes in MDS patients. Expressions of PTPN1, PLCG1, and BCAS4 genes were reduced in MDS patients. Methylation of promoter regions in these genes results in reduced expression in MDS without deletion of long arm of chromosome 20. Reduced expressions of these three genes were associated with worse overall survival of the patients. Molecular and cellular biological analyses indicated that reduced expression of PTPN1, which encodes protein tyrosine phosphatase, causes up-regulation of JAK2-STAT5 pathway, leading to alteration in proliferation and differentiation processes in erythroid series.
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| Free Research Field |
分子病態学
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