2015 Fiscal Year Final Research Report
Whole genome epigenetic analysis in Kabuki syndrome and model cell line construction
| Project/Area Number |
25293084
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Partial Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | Nagasaki University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
OTA Toru 北海道医療大学, 個体差健康科学研究所, 准教授 (10223835)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Keywords | 歌舞伎症候群 / ゲノム編集 / 線維芽細胞 |
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| Outline of Final Research Achievements |
I tried making KMT2D or KDM6A knockout fibroblast cell line in order to analyze the pathophisiology and histon code in Kabuki syndrome. CRSPER/Cas9 genome editing system was adapted. Genome editing in fibroblast are achieved After the drug selection and picking up colony, but low transfection efficiency in fibroblast is a problem for establishing the stable gene knockout cell line. I have not been able to isolate the KMT2D or KDM6A knockout fibroblast cell line so far.
I also tried exome sequencing to identify the novel gene causing Kabuki syndrome in KMT2D/KDM6A mutation negative 12 patients. However, I have not been able to identify the new gene.
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| Free Research Field |
分子遺伝学
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