2012 Fiscal Year Final Research Report
Identification of a critical gene involved in the pathogenesis of systemic lupus erythematosus by linkage analysis and exome resequencing
| Project/Area Number |
23791179
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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 | The University of Tokushima |
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Principal Investigator |
KITAMURA Akiko 徳島大学, 大学院・ヘルスバイオサイエンス研究部, 助教 (10448318)
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| Project Period (FY) |
2011 – 2012
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| Keywords | 全身性エリテマトーデス / キャプチャー・リシークエンス |
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| Research Abstract |
Genome wide association studies have failed to identify genesthat strongly contribute to the pathogenesis of systemic lupus erythematosus (SLE) because SLE is a multifactorial disease. We found one Japanese consanguineous SLE family which consists of 3 affected and 1 unaffected sibling. To identify the underlying gene, we performed a positional cloning analysis and revealed one homozygous region (FSLE-2; 1.1Mb). Next we carried out exome resequencing in FSLE-2 region and identified a candidate gene. We are establishing a genetically modified mouse of the candidate gene to know the association of this gene with the pathogenesis of SLE.
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[Journal Article] A mutation in the immunoproteasome subunit PSMB8 causes utoinflammation and lipodystrophy in humans2011
Author(s)
Kitamura A, Maekawa Y, Uehara H, Izumi K, Kawachi I, Nishizawa M, Toyoshima Y, Takahashi H, Standley DM, Tanaka K, Hamazaki J, Murata S, Obara K, Toyoshima I, Yasutomo K
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Journal Title
J Clin Invest
Volume: 121
Pages: 4150-4160
DOI
Peer Reviewed
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