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Elucidation of novel pathomechanisms due to defects in remote enhancers and chromatin domain TADs in genodermatosis

Research Project

Project/Area Number 16K15547
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Dermatology
Research InstitutionNagoya University

Principal Investigator

AKIYAMA Masashi  名古屋大学, 医学系研究科, 教授 (60222551)

Project Period (FY) 2016-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Fiscal Year 2016: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Keywords皮膚科学 / 臨床遺伝学 / 遺伝学 / 先天性角化異常症 / ゲノム構造 / 遺伝性疾患 / ゲノム
Outline of Final Research Achievements

We performed whole-exome sequencing in 4 harlequin ichthyosis patients with only heterozygous ABCA12 mutations which was elucidated by Sanger sequencing. We found the other causative ABCA12 mutations in 3 cases, but did not detect any ABCA12 mutation in the other patient. We analyzed the genome structure by sequencing of genomic DNA flanking ABCA12 (approximately 5M bases), including ABCA12 topologically associating domain. However, no causative abnormalities were detected in the ABCA12 topologically associating domain. Furthermore, we investigated the chromatin modification of putative ABCA12 expression-associated regions. But, we detected no significant finding in genomic DNA from the family. We also studied the three-dimensional structure of the putative ABCA12 expression-associated genome regions using HI-C data bases. However, no causative aberrant three-dimensional genome structures were obtained in genomic DNA from the patient and the family members.

Report

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

    (9 results)

All 2017 2016 Other

All Int'l Joint Research (1 results) Journal Article (3 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 3 results,  Open Access: 2 results) Presentation (4 results) (of which Invited: 4 results) Remarks (1 results)

  • [Int'l Joint Research] St John’s Institute of Dermatology(英国)

    • Related Report
      2017 Annual Research Report
  • [Journal Article] Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis by a homozygous deletion mutation in SDR9C7.2017

    • Author(s)
      Takeichi T, Nomura T, Takama H, Kono M, Sugiura K, Watanabe D, Shimizu H, Simpson MA, McGrath JA, Akiyama M.
    • Journal Title

      Br J Dermatol

      Volume: 印刷中 Issue: 3

    • DOI

      10.1111/bjd.15315

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis.2017

    • Author(s)
      Akiyama M.
    • Journal Title

      J Dermatol Sci

      Volume: 88 Issue: 1 Pages: 3-9

    • DOI

      10.1016/j.jdermsci.2017.06.002

    • NAID

      120006382253

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Congenital ichthyosis and recurrent eczema associated with a novel ALOXE3 mutation.2017

    • Author(s)
      Takeichi T, Okuno Y, Saito C, Kojima D, Kono M, Morita A, Sugiura K, Akiyama M.
    • Journal Title

      Acta Dermato-Venereol

      Volume: 97(4) Issue: 4 Pages: 532-533

    • DOI

      10.2340/00015555-2549

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] 拡大する角化症の臨床:新規疾患概念:自己炎症性角化症(autoinflammatory keratinization diseases)2017

    • Author(s)
      秋山真志
    • Organizer
      第116回日本皮膚科学会総会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] 教育講演:皮膚のバリア機能を担う分子と構造(かたち)2016

    • Author(s)
      秋山真志
    • Organizer
      第43回皮膚かたち研究学会学術大会
    • Place of Presentation
      ヒューリックホール(東京都台東区)
    • Related Report
      2016 Research-status Report
    • Invited
  • [Presentation] シンポジウム1 皮膚難病克服への挑戦:魚鱗癬・魚鱗癬症候群の病態解明と克服への挑戦2016

    • Author(s)
      秋山真志
    • Organizer
      第67回日本皮膚科学会中部支部学術大会
    • Place of Presentation
      大阪国際会議場(大阪府大阪市)
    • Related Report
      2016 Research-status Report
    • Invited
  • [Presentation] 先天性魚鱗癬の病態解明2016

    • Author(s)
      秋山真志
    • Organizer
      平成28年度愛知県難病教育講演会
    • Place of Presentation
      愛知県医師会館(愛知県名古屋市)
    • Related Report
      2016 Research-status Report
    • Invited
  • [Remarks] 名古屋大学大学院医学系研究科皮膚科学分野のホームページ

    • URL

      https://www.med.nagoya-u.ac.jp/derma/

    • Related Report
      2017 Annual Research Report

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Published: 2016-04-21   Modified: 2019-03-29  

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