title: Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation.
abstract: Pigmentation in mammals is important for protection of skin and eyes from ultraviolet radiation. Dysregulation of pigmentation is often associated with other conditions that are not directly linked to pigmentation. Here, we isolated spontaneously occurring hypopigmented mice that occasionally experienced severe diarrhea during lactation. Treatment of these mice with dextran sulfate sodium salt, a conventional method to induce acute colitis, caused chronic diarrhea with granulomatous colitis. Gene mapping and sequencing revealed that the mice had a nonsense mutation in the Hermansky-Pudlak syndrome (Hps)5 gene. As some HPS patients can develop granulomatous colitis, the simple induction of chronic colitis in spontaneously mutated Hps5-deficient mice may become an invaluable model for exploring treatment options in patients with HPS as well as other patients with inflammatory bowel disease.
authors.affiliation: Cell Signaling and Metabolic Disease, National Institute of Biomedical Innovation, Ibaraki, Osaka, Japan. yumiitoh0308@gmail.com.
authors.forename: Yumi
authors.initials: Y
authors.lastname: Itoh
authors.affiliation: Department of Life Science and Biotechnology, Kansai University, Suita, Osaka, Japan.
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Nagaoka
authors.affiliation: Department of Life Science and Biotechnology, Kansai University, Suita, Osaka, Japan.
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Katakura
authors.affiliation: Department of Life Science and Biotechnology, Kansai University, Suita, Osaka, Japan.
authors.forename: Hidehisa
authors.initials: H
authors.lastname: Kawahara
authors.affiliation: Cell Signaling and Metabolic Disease, National Institute of Biomedical Innovation, Ibaraki, Osaka, Japan. mukuharu22@yahoo.co.jp.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takemori
mesh_terms: D000818:Animals; D002352:Carrier Proteins / Q000235:genetics*; D002908:Chronic Disease; D018389:Codon, Nonsense; D003092:Colitis / Q000139:chemically induced / Q000235:genetics* / Q000473:pathology; D016264:Dextran Sulfate / Q000633:toxicity; D004195:Disease Models, Animal; D005260:Female; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics* / Q000473:pathology*; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL
chemical_list: D002352:Carrier Proteins; D018389:Codon, Nonsense; C493900:HPS5 protein, human; D016264:Dextran Sulfate
keywords: Hermansky-Pudlak syndrome; chronic; colitis; mouse model; pigmentation