2017 Fiscal Year Final Research Report
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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| Keywords | エピプラキン / 遺伝子 / コピー数多様性 / HeLa細胞 / HaCaT細胞 |
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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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| Free Research Field |
皮膚
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