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Intragenic copy number variation within human epiplakin 1 (EPPK1) generates variation of molecular size of epiplakin

Research Project

Project/Area Number 15K09746
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Dermatology
Research InstitutionOita University

Principal Investigator

Ishikawa Kazushi  大分大学, 医学部, 助教 (80600452)

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)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
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)
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
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.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (6 results)

All 2018 2017 2016

All Journal Article (6 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 6 results,  Open Access: 3 results)

  • [Journal Article] Superficial epidermolytic ichthyosis concomitant with atopic dermatitis.2018

    • Author(s)
      Shimada Hiromitu
    • Journal Title

      Eur J Dermatol

      Volume: 28(1) Pages: 94-96

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A case of IgA pemphigus foliaceus with high scores on drug-induced lymphocyte stimulation tests secondary to various drugs.2017

    • Author(s)
      Saito-Shono Tomoko
    • Journal Title

      Eur J Dermatol

      Volume: 27(6) Issue: 6 Pages: 664-665

    • DOI

      10.1684/ejd.2017.3111

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [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
    • Journal Title

      Eur J Dermatol

      Volume: 27 Issue: 2 Pages: 184-185

    • DOI

      10.1684/ejd.2016.2923

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [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.
    • Journal Title

      J Dermatol.

      Volume: 43 Issue: 8 Pages: 947-50

    • DOI

      10.1111/1346-8138.13300

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access
  • [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, et al.
    • Journal Title

      J Invest Dermatol

      Volume: 136 Issue: 2 Pages: 399-408

    • DOI

      10.1038/jid.2015.408

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [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.
    • Journal Title

      J Dermatol.

      Volume: 43 Issue: 3 Pages: 341-343

    • DOI

      10.1111/1346-8138.13198

    • Related Report
      2015 Research-status Report
    • Peer Reviewed

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Published: 2015-04-16   Modified: 2019-03-29  

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