PMID- 27333462 OWN - NLM STAT- MEDLINE DCOM- 20171116 LR - 20180611 IS - 1755-148X (Electronic) IS - 1755-1471 (Linking) VI - 29 IP - 5 DP - 2016 Sep TI - Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. PG - 578-82 LID - 10.1111/pcmr.12504 [doi] AB - 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. CI - (c) 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. FAU - Itoh, Yumi AU - Itoh Y AD - Cell Signaling and Metabolic Disease, National Institute of Biomedical Innovation, Ibaraki, Osaka, Japan. yumiitoh0308@gmail.com. FAU - Nagaoka, Yasuo AU - Nagaoka Y AD - Department of Life Science and Biotechnology, Kansai University, Suita, Osaka, Japan. FAU - Katakura, Yoshio AU - Katakura Y AD - Department of Life Science and Biotechnology, Kansai University, Suita, Osaka, Japan. FAU - Kawahara, Hidehisa AU - Kawahara H AD - Department of Life Science and Biotechnology, Kansai University, Suita, Osaka, Japan. FAU - Takemori, Hiroshi AU - Takemori H AD - Cell Signaling and Metabolic Disease, National Institute of Biomedical Innovation, Ibaraki, Osaka, Japan. mukuharu22@yahoo.co.jp. LA - eng SI - GENBANK/LC151021 PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20160808 PL - England TA - Pigment Cell Melanoma Res JT - Pigment cell & melanoma research JID - 101318927 RN - 0 (Carrier Proteins) RN - 0 (Codon, Nonsense) RN - 0 (HPS5 protein, human) RN - 9042-14-2 (Dextran Sulfate) SB - IM MH - Animals MH - Carrier Proteins/*genetics MH - Chronic Disease MH - *Codon, Nonsense MH - Colitis/chemically induced/*genetics/pathology MH - Dextran Sulfate/toxicity MH - *Disease Models, Animal MH - Female MH - Humans MH - Hypopigmentation/*genetics/*pathology MH - Male MH - Mice MH - Mice, Inbred C57BL OTO - NOTNLM OT - Hermansky-Pudlak syndrome OT - chronic OT - colitis OT - mouse model OT - pigmentation EDAT- 2016/06/23 06:00 MHDA- 2017/11/29 06:00 CRDT- 2016/06/23 06:00 PHST- 2016/03/12 00:00 [received] PHST- 2016/06/16 00:00 [accepted] PHST- 2016/06/23 06:00 [entrez] PHST- 2016/06/23 06:00 [pubmed] PHST- 2017/11/29 06:00 [medline] AID - 10.1111/pcmr.12504 [doi] PST - ppublish SO - Pigment Cell Melanoma Res. 2016 Sep;29(5):578-82. doi: 10.1111/pcmr.12504. Epub 2016 Aug 8.