A pig model carrying heterozygous point mutation of NCSTN simulates familial acne inversa and reveals dysregulated cholesterol biosynthesis via the Notch-pAMPK-HMGCR pathway

Ruigao Song; Keqiang Liu; Yu Wang; Guosong Qin; Meng Xiao; Yaping Liu; Jun Yang; Ruojun Zong; Xinghui Yan; Qiantao Zheng; Hongyong Zhang; Naipeng Hou; Jing Yao; Xiao Wang; Yanfang Wang; Jianguo Zhao; Xue Zhang

doi:10.1016/j.scib.2021.05.022

A pig model carrying heterozygous point mutation of NCSTN simulates familial acne inversa and reveals dysregulated cholesterol biosynthesis via the Notch-pAMPK-HMGCR pathway

Sci Bull (Beijing). 2021 Dec 15;66(23):2343-2346. doi: 10.1016/j.scib.2021.05.022. Epub 2021 May 23.

Authors

Ruigao Song¹, Keqiang Liu², Yu Wang¹, Guosong Qin³, Meng Xiao², Yaping Liu², Jun Yang², Ruojun Zong¹, Xinghui Yan¹, Qiantao Zheng⁴, Hongyong Zhang⁴, Naipeng Hou⁵, Jing Yao⁶, Xiao Wang³, Yanfang Wang⁵, Jianguo Zhao⁷, Xue Zhang⁸

Affiliations

¹ State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing 100101, China.
² McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China.
³ State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing 100101, China.
⁴ State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China.
⁵ State Key Laboratory of Animal Nutrition, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
⁶ State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing 100101, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing 100101, China.
⁷ State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing 100101, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing 100101, China. Electronic address: zhaojg@ioz.ac.cn.
⁸ McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China. Electronic address: xuezhang@pumc.edu.cn.

PMID: 36654118
DOI: 10.1016/j.scib.2021.05.022

No abstract available

MeSH terms

Animals
Cholesterol
Hidradenitis Suppurativa* / genetics
Mutation
Point Mutation*
Swine
Transcription Factors / genetics

Substances

Transcription Factors
Cholesterol

Supplementary concepts

Hidradenitis suppurativa, familial