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A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment

Journal of Molecular Cell Biology 2019年第12期11卷 1029-1041页

作者： Xiao Wang Chunwei Cao Yongshun Li Tang Hai Qitao Jia Ying Zhang Qiantao Zheng Jing Yao Guosong Qin Hongyong Zhang Ruigao Song Yanfang Wang Guanghou Shui Sin Man Lam Zhonghua Liu Hong Wei Anming Meng Qi Zhou Jianguo Zhao State Key Laboratory of Stem Cell and Reproductive Biology Institute of ZoologyChinese Academy of SciencesBeijing 100101China University of Chinese Academy of Sciences Beijing 100049China State Key Laboratory of Animal Nutrition Institute of Animal ScienceChinese Academy of Agricultural SciencesBeijing 100081China State Key Laboratory of Molecular Developmental Biology Institute of Genetics and Developmental BiologyChinese Academy of SciencesBeijing 100101China College of Life Science Northeast Agricultural University of ChinaHarbin 150030China Department of Laboratory Animal Science College of Basic Medical SciencesThird Military Medical UniversityChongqing 400038China School of Life Sciences Tsinghua UniversityBeijing 100084China Chinese Swine mutagenesis Consortium Beijing 100101China

Harlequin ichthyosis (HI) is a severe genetic skin disorder and caused by mutation in the ATP-binding cassette A12 (ABCA12) gene. The retinoid administration has dramatically improved long-term survival of HI, but improvements are still needed. However, the ABCA12 null mice failed to respond to retinoid treatment, which impedes the development of novel cure strategies for HI. Here we generated an ethylnitrosourea mutagenic HI pig model (named Z9), which carries a novel deep intronic mutation IVS49-727 A>G in the ABCA12 gene, resulting in abnormal mRNA splicing and truncated protein production. Z9 pigs exhibit significant clinical symptom as human patients with HI. Most importantly, systemic retinoid treatment significantly prolonged the life span of the mutant pigs via improving epidermal maturation, decreasing epidermal apoptosis, and triggering the expression of ABCA6. Taken together, this pig model perfectly resembles the clinical symptom and molecular pathology of patients with HI and will be useful for understanding mechanistic insight and developing therapeutic strategies.

关键词： harlequin ichthyosis ABCA12 pig model acitretin enu mutagenesis deep intronic mutation

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