2009 Fiscal Year Final Research Report
Analysis of SIM gene expression and SIM protein interaction in Down Syndrome
| Project/Area Number |
18790766
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Embryonic/Neonatal medicine
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| Research Institution | Kyorin University |
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Principal Investigator |
YAMAKI Akiko Kyorin University, 保健学部, 講師 (40296546)
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| Project Period (FY) |
2006 – 2009
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| Keywords | ダウン症候群 / SIM2 / プロモーター / 転写因子 |
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| Research Abstract |
The human SIM2 gene is a gene that is located in chromosome 21q22.2 in Down syndrome chromosome region and the SIM2 protein is a transcription factor which belong to bHLH-PAS family. SIM2 protein act when generate dimer with transcription factors which are ARNT and ARNT2. Dimerization domain of SIM2 protein with ARNT protein has not been done in detail, so we had analyzed the SIM2-ARNT and SIM2-ARNT2 dimerization domain using deletion mutants for each functional domain in the SIM2 protein. After all, there are different dimerization domain in SIM2 protein required by partner proteins. Since there are two SIM2 protein that is differenciated by splicing, we have conducted analysis to identify how the function of SIM2 gene expression is different. Promoter assay and gel retardation assay showd that SIM2l and SIM2s seems to be regulated by different transcription factors.
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