Intragenic copy number variation within human epiplakin 1 (EPPK1) generates variation of molecular size of epiplakin
| Project/Area Number |
15K09746
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Oita University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
島田 浩光 大分大学, 医学部, 客員研究員 (70330826)
工藤 純 慶應義塾大学, 医学部(信濃町), 教授 (80178003)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | エピプラキン / 遺伝子 / コピー数多様性 / HeLa細胞 / HaCaT細胞 / epiplakin / タイトジャンクション / アトピー性皮膚炎 / プラキンファミリー |
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| Outline of Final Research Achievements |
The protein coding sequence length of EPPK1 was 15.3 kb and estimated the molecular size of the protein to be 555 kDa. However, additional protein bands above and below the dominant 555 kDa protein were observed by immunoblot analysis of epidermal extracts or cell lysates. This study was investigated copy number variation (CNV) of EPPK1.We performed long-range PCR analysis on DNA derived from leukocytes of 13 nonatopic and 10 atopic individuals and from four cell lines. We compared the molecular sizes of epiplakin by immunoblot analysis and CNV.
Genetic variations consisting of three to eight, four to eight, or four to nine highly conserved repeats located in the 3’ region of EPPK1 were detected in nonatopic, atopic dermatitis groups and cell lines, respectively. The largest and smallest molecular sizes were estimated to be 789 kDa and 439 kDa (17 and 11 B domains), respectively. We concluded that the isoforms of epiplakin is caused by CNV of highly conserved repeats.
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Report
(4 results)
Research Products
(6 results)
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[Journal Article] A case of fulminant type 1 diabetes mellitus with a precipitous decrease in pancreatic volume, induced by nivolmab for malignant melanoma: analysis of HLA and CTLA4 porymorphism.2017
Author(s)
Ishikawa K, Shono-Saito T, Yamate T, Kai Y, Sakai T, Shimizu F, Yamada Y, Mori H, Noso S, Ikegami H, Kojima H, Tanaka H, Fujiwara S, Hatano Y
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Journal Title
Brit J Dermatol
Volume: 27
Pages: 184-185
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Three cases of pigmented cosmetic dermatitis-like eruptions associated with primary Sjogren syndrome or anti-SSA antibody.2016
Author(s)
Takeo N, Sakai T, Saito-Shono T, Ishikawa K, Hatano Y, Katagiri K, Takahashi Y, Kawano K, Kimoto K, Kubota T, Eshima N, Kojima H, Fujiwara S.
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Journal Title
Journal of Investigative Dermatology
Volume: 43
Pages: 162-164
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Epiplakin Is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients.2016
Author(s)
Tsuchisaka A, Numata S, Teye K, Natsuaki Y, Kawakami T, Takeda Y, Wang W, Ishikawa K, Goto M, Koga H, Sogame R, Ishii N, Takamori S, Hoshino T, Brandt O, Pas HH, Fujiwara S, Hashimoto T.
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Journal Title
J Invest Dermatol
Volume: 136
Pages: 399-408
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Blistering disease associated with diffuse large B-cell lymphoma but without autoantibodies.2016
Author(s)
Yamate T, Shono T, Shimada H, Ishikawa K, Hatano Y, Kohno K, Yamamoto T, Fujimoto W, Yamaguchi M, Aoyama Y, Ishii N, Hashimoto T, Fujiwara S.
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Journal Title
J Dermatol.
Volume: ４３
Pages: 341-343
DOI
Related Report
Peer Reviewed
