A homozygous nonsense mutation in the gene for Tmem79 , a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis

• Published in: Journal of allergy and clinical immunology Vol. 132; no. 5; pp. 1111 - 1120.e4
• Main Authors: Sasaki, Takashi, PhD, Shiohama, Aiko, PhD, Kubo, Akiharu, MD, PhD, Kawasaki, Hiroshi, MD, PhD, Ishida-Yamamoto, Akemi, MD, PhD, Yamada, Taketo, MD, PhD, Hachiya, Takayuki, PhD, Shimizu, Atsushi, PhD, Okano, Hideyuki, MD, PhD, Kudoh, Jun, PhD, Amagai, Masayuki, MD, PhD
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.11.2013; Elsevier; Elsevier Limited
• Subjects: Allergic diseases; Allergy and Immunology; Animals; Artificial chromosomes; Atopic dermatitis; Biological and medical sciences; Codon, Nonsense; Deoxyribonucleic acid; Dermatitis, Atopic - genetics; Dermatitis, Atopic - metabolism; Disease Models, Animal; DNA; Eczema - genetics; Eczema - metabolism; Epithelium - metabolism; filaggrin; Fundamental and applied biological sciences. Psychology; Fundamental immunology; Gene Expression; Gene Order; Genomes; Genomics; Genotype & phenotype; Homozygote; Hydration; Immunopathology; Medical sciences; Membrane Proteins - genetics; Membrane Proteins - metabolism; Mice; Mice, Transgenic; Microscopy; Mutation; Phenotype; Protein Transport; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Sheep; Skin - metabolism; Skin - pathology; Skin allergic diseases. Stinging insect allergies; skin barrier; Software; stratum corneum; trans-Golgi network; Japan; Flg; Corneodesmosin; SPF; SC; stratum corneum; Specific pathogen free; ma; SG; Single nucleotide variation; Atopic dermatitis; SNV; filaggrin; WT; skin barrier; Matted; TEWL; AD; CDSN; Stratum granulosum; Transepidermal water loss; Wild type; trans-Golgi network; Lamellar granule; TGN; LG; Allergy; Immunopathology; Skin disease; Stratum corneum; Nonsense mutation; Spontaneous; Filaggrin; Experimental study; Homozygosity; Atopy; Golgi apparatus; Immunology; Gene; Eczema; Network; Genetics; Models; Skin; Trans-Golgi network

Background Flaky tail (ma/ma Flg ft/ft ) mice have a frameshift mutation in the filaggrin (Flg ft ) gene and are widely used as a model of human atopic dermatitis associated with FLG mutations. These mice possess another recessive hair mutation, matted ( ma ), and develop spontaneous dermatitis unde...