| Project/Area Number |
26860793
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Gifu University |
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Principal Investigator |
HORI Tomohiro 岐阜大学, 医学部附属病院, 助教 (90456525)
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | スプライシングオーダー / 選択的スプライシング / 遺伝学 / スプライシング |
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| Outline of Final Research Achievements |
Our strategy was to use RT-PCR of hnRNA to detect the presence or absence of spliced exon clusters in RNA intermediates (SECRIs) comprising sequential exons. The splice donor site mutation c.1248+5g>a (IVS13) of the OXCT1 gene resulted predominantly in skipping of exons 12 and 13 in skin fibroblasts from a patient with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. We compared hnRNA intermediates between controls' and the patient's fibroblasts derived from skin, kidney and liver. In controls, intron 11 was the last intron to be spliced and the removal of intron 12 was also rather slow and occurred after the removal of intron 13 in a major pathway. The mutation in the patient’s cells resulted in retention of intron 13, thus causing the retention of introns 12 and 11. Now, we have been conducting studies about splicing order in fibroblasts derived from hepatocyte and the gene responsible for mitochondrial acetoacetyl-CoA thiolase deficiency.
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