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Saunders, S.P.* ; Goh, C.S.* ; Brown, S.J.* ; Palmer, C.N.* ; Porter, R.M.* ; Cole, C.* ; Campbell, L.E.* ; Gierlinski, M.* ; Barton, G.J.* ; Schneider, G.* ; Balmain, A.* ; Prescott, A.R.* ; Weidinger, S.* ; Baurecht, H.* ; Kabesch, M.* ; Gieger, C. ; Lee, Y.A.* ; Tavendale, R.* ; Mukhopadhyay, S.* ; Turner, S.W.* ; Madhok, V.B.* ; Sullivan, F.M.* ; Relton, C.* ; Burn, J.* ; Meggitt, S.* ; Smith, C.H.* ; Allen, M.A.* ; Barker, J.N.* ; Reynolds, N.J.* ; Cordell, H.J.* ; Irvine, A.D.* ; McLean, W.H.* ; Sandilands, A.* ; Fallon, P.G.*

Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects.

J. Allergy Clin. Immunol. 132, 1121-1129 (2013)
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BACKGROUND: Atopic dermatitis (AD) is a major inflammatory condition of the skin caused by inherited skin barrier deficiency, with mutations in the filaggrin gene predisposing to development of AD. Support for barrier deficiency initiating AD came from flaky tail mice, which have a frameshift mutation in Flg and also carry an unknown gene, matted, causing a matted hair phenotype. OBJECTIVE: We sought to identify the matted mutant gene in mice and further define whether mutations in the human gene were associated with AD. METHODS: A mouse genetics approach was used to separate the matted and Flg mutations to produce congenic single-mutant strains for genetic and immunologic analysis. Next-generation sequencing was used to identify the matted gene. Five independently recruited AD case collections were analyzed to define associations between single nucleotide polymorphisms (SNPs) in the human gene and AD. RESULTS: The matted phenotype in flaky tail mice is due to a mutation in the Tmem79/Matt gene, with no expression of the encoded protein mattrin in the skin of mutant mice. Matt(ft) mice spontaneously have dermatitis and atopy caused by a defective skin barrier, with mutant mice having systemic sensitization after cutaneous challenge with house dust mite allergens. Meta-analysis of 4,245 AD cases and 10,558 population-matched control subjects showed that a missense SNP, rs6694514, in the human MATT gene has a small but significant association with AD. CONCLUSION: In mice mutations in Matt cause a defective skin barrier and spontaneous dermatitis and atopy. A common SNP in MATT has an association with AD in human subjects.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Allergy ; Association ; Atopic Dermatitis ; Atopy ; Eczema ; Filaggrin ; Flaky Tail ; Matt ; Mattrin ; Mouse ; Mutation ; Tmem79; Genome-wide Association ; Flaky Tail Mice ; Ichthyosis Vulgaris ; Barrier Function ; Susceptibility Loci ; Skin Inflammation ; Filaggrin ; Disease ; Protein ; Mutations
Sprache englisch
Veröffentlichungsjahr 2013
HGF-Berichtsjahr 2013
ISSN (print) / ISBN 0091-6749
e-ISSN 1097-6825
Zeitschrift The journal of allergy and clinical immunology
Quellenangaben Band: 132, Heft: 5, Seiten: 1121-1129 Artikelnummer: , Supplement: ,
Verlag Elsevier
Verlagsort Amsterdam [u.a.]
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Genetic Epidemiology (IGE)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-504100-001
PubMed ID 24084074
DOI 10.1016/j.jaci.2013.08.046
WOS ID WOS:000326235600011
Scopus ID 84887017487
Erfassungsdatum 2013-10-18
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