2017 Fiscal Year Final Research Report
Analysis of pathophysiology of skewed X-chromosome inactivation in female patients with X-linked recessive hereditary disease using iPS cells
| Project/Area Number |
15K09655
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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 |
Pediatrics
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| Research Institution | Kyushu University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
石村 匡崇 九州大学, 医学研究院, 助教 (10448417)
田中 珠美 九州大学, 医学研究院, 学術研究員 (60423547)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Keywords | X染色体不活化 / X連鎖劣性遺伝性疾患 / X連鎖無ガンマグロブリン血症 / Wiskott-Aldrich症候群 / iPS細胞 |
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| Outline of Final Research Achievements |
This study was to identify the mechanism of skewed X chromosome inactivation (XCI) which was observed in female XLA and WAS, and to search the drug to treat abnormal XIC. We established a gene transduction method to induce 2 genes which emit 2 different types of fluorescence into iPS cells. By using this system, we could identify the type of XCI by flowcytometer and we found that this system was useful in drug screening. We established the HD.AdAAV gene editing system in which we could induce fatal gene mutation at specific sites, which we found useful in drug-screening. To analyze the mechanism of XCI skewing, we performed whole exon sequencing and genetic analysis of XCI region. We are now working on whole-genome sequencing.
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| Free Research Field |
小児科学
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