Copy number variation analysis of FLG in atopic dermatitis

2012 Fiscal Year Final Research Report

• Project/Area Number: 23791245
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: Hokkaido University
• Principal Investigator: NOMURA Toshifumi 北海道大学, 北海道大学病院, 助教 (50399911)
• Project Period (FY): 2011 – 2012
• Keywords: アトピー性皮膚炎 / フィラグリン

Research Abstract

The gene encoding filaggrin (FLG), whose mutations are well known as a predisposing factor for atopic dermatitis, has a copy number variation. The exon 3 of FLG consists of 10-12 highly homologous repeats. In this study, we analyzed the copy number variation using DNAs taken from 100 patients with atopic dermatitis and determined the frequency of each copy number.

Research Products

• [Journal Article] A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa (2013)
  • Author(s): Nomura Y, Nomura T, Sakai K, Sasaki K, Ohguchi Y, Mizuno O, Hata H, Aoyagi S, Abe R, Itaya Y, Akiyama M, Shimizu H
  • Journal Title: The British Journal of Dermatology Volume: 168巻 Pages: 206-209
  • DOI: doi:10.1111/j.1365-2133.2012.11174.x
  • Peer Reviewed
• [Journal Article] Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma (2012)
  • Author(s): Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran BE, Wilson NJ, Smith FJD, Goh CSM, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WHI
  • Journal Title: Nature Genetics Volume: 44巻 Pages: 1272-1276
  • DOI: doi:10.1038/ng.2444.
  • Peer Reviewed
• [Journal Article] Type VII Collagen Deficiency Causes Defective Tooth Enamel Formation due to Poor Differentiation of Ameloblasts (2012)
  • Author(s): Umemoto H, Akiyama M, Domon T, Nomura T, Shinkuma S, Ito K, Asaka T, Sawamura D, Uitto J, Uo M, Kitagawa Y, Shimizu H
  • Journal Title: The American Journal of Pathology Volume: 181巻 Pages: 1659-1671
  • DOI: doi:10.1016/j.ajpath.2012.07.018.
  • Peer Reviewed
• [Journal Article] A group of atopic dermatitis withoutIgE elevation or barrier impairment shows a high Th1 frequency: possible immunological state of the intrinsic type (2012)
  • Author(s): Kabashima-Kubo R, Nakamura M, Sakabe J, Sugita K, Hino R, Mori T, Kobayashi M, Bito T, Kabashima K, Ogasawara K, Nomura Y, Nomura T, Akiyama M, Shimizu H, Tokura Y
  • Journal Title: The Journal of Dermatological Science Volume: 67巻 Pages: 37-43
  • DOI: doi:10.1016/j.jdermsci.2012.04.004
  • Peer Reviewed
• [Journal Article] The ss9 Loop Domain of PA-PLA(1)α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis (2012)
  • Author(s): Shinkuma S, Inoue A, Aoki J, Nishie W, Natusuga K, Ujiie H, Nomura T, Abe R, Akiyama M, Shimizu H
  • Journal Title: The Journal of Investive Dermatology Volume: 132巻 Pages: 2093-5
  • DOI: doi:10.1038/jid.2012.96
  • Peer Reviewed
• [Journal Article] Intraepidermal neutrophilic IgA pemphigus successfully treated with dapsone (2012)
  • Author(s): Hirata Y, Abe R, Kikuchi K, Hamasaka A, Shinkuma S, Ujiie H, Nomura T, Nishie W, Arita K, Shimizu H
  • Journal Title: The European Journal of Dermatology Volume: 22巻 Pages: 282-3
  • DOI: doi:10.1684/ejd.2012.1662
  • Peer Reviewed
• [Journal Article] アトピー性皮膚炎とフィラグリン (2011)
  • Author(s): 乃村俊史
  • Journal Title: アレルギーの臨床 Volume: 41巻 Pages: 751-757
  • Peer Reviewed
• [Journal Article] 遺伝性角化症,表皮水疱症 (2011)
  • Author(s): 大口由香,乃村俊史,清水宏
  • Journal Title: 周産期医学 Volume: 41巻 Pages: 751-757
  • Peer Reviewed
• [Journal Article] Dermoscopy of pseudoxanthoma elasticum-like papillary dermal elastolysis
  • Author(s): Ito T, Fujita Y, Nomura T, Abe R, Shimizu H
  • Journal Title: J Am Acad Dermatol Volume: (in press)
  • Peer Reviewed
• [Journal Article] A lack of premature termination codon read through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays
  • Author(s): McElroy SP, Nomura T, Torrie LS, Warbrick E, Gartner U, Wood G, McLean WHI
  • Journal Title: Plos Biol Volume: (in press)
  • Peer Reviewed
• [Journal Article] Impaired epidermal permeability barrier in mice lacking the Elovl1 gene responsible for very long-chain fatty acid production
  • Author(s): Sassa T, Ohno Y, Suzuki S, Nomura T, Nishioka C, Kashiwagi T, Hirayama T, Akiyama M, Taguchi R, Shimizu H, Itohara S, Kihara A
  • Journal Title: The Molecular Cell Biology Volume: (in press)
  • Peer Reviewed
• [Presentation] 皮膚バリア障害と皮膚疾患 (2013)
  • Author(s): 乃村俊史
  • Organizer: 特にアトピー性皮膚炎について学術講演会
  • Place of Presentation: 北海道ホテル(帯広)
  • Year and Date: 2013-03-01
• [Presentation] Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 1 (2012)
  • Author(s): Pohler E, Nomura T, Akiyama M, Suehiro M, Shimizu H, Mamai O, Zamiri M, Horn H, Irvine AD, Hirst J, Robinson MS, McGrath JA, Munro CS, McLean WHI
  • Organizer: The 37th Annual Meeting of the Japanese Society for Investigative Dermatology
  • Place of Presentation: ロワジールホ テル&スパタワー那覇(沖縄)
  • Year and Date: 2012-12-08
• [Presentation] A novel frameshift mutation in the V2 domain of KRT1 causes ichthyosis hystrix Curth-Macklin and may alter keratin organization (2012)
  • Author(s): Suzuki S, Nomura T, Umemoto H, AkiyamaM, Shimizu H
  • Organizer: The 37th Annual Meeting of the Japanese Society for Investigative Dermatology
  • Place of Presentation: ロワジールホ テル&スパタワー那覇(沖縄)
  • Year and Date: 2012-12-08
• [Presentation] アトピー性皮膚炎Up-to-date (2012)
  • Author(s): 乃村俊史
  • Organizer: 第101回釧路皮膚科医会
  • Place of Presentation: ふく井ホテル(帯広)
  • Year and Date: 2012-07-21
• [Presentation] 新規リードスルー治療薬の開発 (2011)
  • Author(s): 乃村俊史, Gartner U, McElroy S, Torrie L, Pourreyron C, South A, Wood G, Woodland A, Frearson J, Wyatt P, McLean WHI
  • Organizer: 第388回日本皮膚科学会北海道地方会
  • Place of Presentation: 札幌医科大学(札幌)
  • Year and Date: 2011-12-17
• [Presentation] 7q22.1 as a possible gene locus of Michelin tire baby syndrome (2011)
  • Author(s): Arita K, Nomura T, Nomura Y, Ota M, Shimizu H
  • Organizer: The 36th Annual Meeting ofthe Japanese Society for Investigative Dermatology
  • Place of Presentation: 国立国際京都会館(京都)
  • Year and Date: 2011-12-10
• [Presentation] Type VII collagen deficiency causes defective tooth enamel formation due to poorly differentiated ameloblasts (2011)
  • Author(s): Umemoto H, Akiyama M, Domon T, Nomura T, Nishie W, Shinkuma S, Ito K, Sawamura D, Uitto J, Kitagawa Y, Shimizu H
  • Organizer: The 36th Annual Meeting of the Japanese Society for Investigative Dermatology
  • Place of Presentation: 国立国際京都会館(京都)
  • Year and Date: 2011-12-10
• [Presentation] A novel mutation in the β9 loop domain leads to abolition of enzyme activity of PA-PLA1α in autosomal recessive woolly hair/hypotrichosis (2011)
  • Author(s): Shinkuma S, Nishie W, Inoue A, Aoki J, Ujiie H, Nomura T, Abe R, Akiyama M, Shimizu H
  • Organizer: The 36th Annual Meeting of the Japanese Society for Investigative Dermatology
  • Place of Presentation: 国立国際京都会館(京都)
  • Year and Date: 2011-12-10
• [Presentation] Prevalent and rare filaggrin gene mutations in the Japanese population (2011)
  • Author(s): Ohguchi Y, Nomura T, Miyamura Y, Ono N, Kosuge H, Okamoto H, McLean W, Akiyama M, Shimizu H
  • Organizer: The 36th Annual Meeting of the Japanese Society for Investigative Dermatology
  • Place of Presentation: 国立国際京都会館(京都)
  • Year and Date: 2011-12-10
• [Presentation] A novel NCSTN gene mutation causing familial acne inversa in a Japanese family (2011)
  • Author(s): Nomura Y, Nomura T, Sakai K, Mizuno O, Hata H, Aoyagi S, Abe R, Itaya Y, Akiyama M, Shimizu H
  • Organizer: The 36th Annual Meeting of the Japanese Society for Investigative Dermatology
  • Place of Presentation: 国立国際京都会館(京都)
  • Year and Date: 2011-12-10
• [Presentation] Filaggrin as a novel therapeutic target for atopic dermatitis (2011)
  • Author(s): Nomura T
  • Organizer: The 11^th Annual Meeting of KoreanAtopic Dermatitis Association
  • Place of Presentation: Seoul National University(Korea)
  • Year and Date: 2011-11-12
• [Presentation] Recent advances in skin barrier research.2011 Regular Seminar of Research Institute for Biomedical and Pharmaceutical Sciences (2011)
  • Author(s): Nomura T
  • Organizer: Molecular Approach in Skin Diseases and Allergy
  • Place of Presentation: Chung-Ang University(Korea)
  • Year and Date: 2011-11-11
• [Presentation] A novel splice site mutation in NCSTN underlies familial acne inversa in a Japanese family (2011)
  • Author(s): Nomura Y, Nomura T, Sakai K, Mizuno O, Hata H, Aoyagi S, Abe R, Itaya Y, Akiyama M, Shimizu H
  • Organizer: The 41st Annual Meeting of the European Society for Dermatological Research
  • Place of Presentation: Barcelona International Convention Centre (Spain)
  • Year and Date: 2011-09-08
• [Presentation] (講演)アトピー性皮膚炎と蕁麻疹～最近の話題も含めて～ (2011)
  • Author(s): 乃村俊史
  • Organizer: 札幌市西区プライマリーケア勉強会
  • Place of Presentation: ノボテル札幌(札幌市)
  • Year and Date: 2011-07-16
• [Presentation] Atopic dermatitis and filaggrin gene mutations (2011)
  • Author(s): Nomura T, Shimizu H
  • Organizer: The 22nd World Congress of Dermatology
  • Place of Presentation: COEX (Korea)
  • Year and Date: 2011-05-24
• [Presentation] Developing small molecule drugs to rescue nonsense mutations in disease-causing genes (2011)
  • Author(s): Nomura T, Gartner U, McElroy S, Torrie L, Pourreyron C, South AP, Wood G, Woodland A, Frearson J, Wyatt P, McLean WHI
  • Organizer: The 71st annual meeting of the Society for Investigative Dermatology
  • Place of Presentation: JW Marriott Desert RidgeResort and Spa (USA)
  • Year and Date: 2011-05-05
• [Book] 皮膚疾患と遺伝/総論 (2012)
  • Author(s): 乃村俊史
  • Total Pages: 971-974
  • Publisher: 医学書院、今日の皮膚疾患治療指針第4版