2016 Fiscal Year Final Research Report
Genome assay using massive parallel sequencing
| Project Area | Integral understanding of the mechanism of transcription cycle through quantitative, high-resolution approaches |
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| Project/Area Number |
24118007
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| Research Category |
Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
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| Allocation Type | Single-year Grants |
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| Review Section |
Biological Sciences
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| Research Institution | Yokohama City University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
三宅 紀子 横浜市立大学, 医学部, 准教授 (40523494)
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| Project Period (FY) |
2012-06-28 – 2017-03-31
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| Keywords | 転写サイクル / Chip seq / BAF複合体 / 点変異 / 遺伝子重複 |
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| Outline of Final Research Achievements |
To establish genome assay methods for elucidating transcriptional cycles by using NGS, various projects have been done. As genetic aberrations involving abnormal transcriptional cycles, we found mutations of five genes encoding subunits of BAF complex and its downstream SOX11 in patients with Coffin-Siris syndrome. Among these 6 genes, deletions or truncation mutations were found only in ARID1B and only missense mutations were found in the other five genes. SMARCA2 duplications were also found in two cases of Coffin-Siris syndrome, implying that fine quantity regulation of each BAF complex subunits is needed for sophisticated transcriptional regulation.
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| Free Research Field |
人類遺伝学・ゲノム医学
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