| Project/Area Number |
20591114
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Hematology
|
|---|
| Research Institution | University of Yamanashi |
|---|
Principal Investigator |
SAKOE Kumi University of Yamanashi, 医学部, ポストドクター (10398505)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
KOMATU Norio 順天堂大学, 医学部, 教授 (50186798)
桐戸 敬太 山梨大学, 大学院・医学工学総合研究部, 教授 (90306150)
|
|---|
| Co-Investigator(Renkei-kenkyūsha) |
KIRITO Keita 山梨大学, 大学院・医学工学総合研究部, 教授 (90306150)
|
|---|
| Project Period (FY) |
2008 – 2010
|
| Project Status |
Completed (Fiscal Year 2010)
|
| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2010: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2009: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2008: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
|
|---|
| Keywords | RUNX1 / 家族性血小板減少症 / 白血球 / 遺伝子変異 / 発現調節 / 家族性血小板機能異常症 / 白血病 |
|---|
| Research Abstract |
RUNX1 is a transcription factor that is essential for hematopoiesis and is the causative gene of the familial platelet disorder that developing leukemia in a high risk. SNP in the promoter region of RUNX1 gene effects on the RUNX1 transcription, and allelic imbalance causes the over-expression of mutation transcript in the same allele at SNP. New 4 lysine residues in the carboxyl terminal of mutant RUNX1 protein that differs from normal RUNX1 due to a frame shift mutation are target of ubiquitination and degradation. It was suggested that the allelic expression imbalance and a decrease of protein level cause the risk of leukemia.
|
