RNA转染研究病理性色素沉着(entranster),转染效率高.pdf

J. Cell. Mol. Med. Vol 21, No 4, 2017 pp. 802-815 A novel P53/POMC/Gas/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation Ding’an Zhou a, b *, Zhiyun Wei c, Zhongshu Kuang a, Huangchao Luo a, Jiangshu Ma a, Xing Zeng a, Ke Wang a, Beizhong Liu a, Fang Gong a, Jing Wang a, Shanchuan Lei a, Dongsheng Wang d, Jiawei Zeng e, Teng Wang b, Yong He a, Yongqiang Yuan a, Hongying Dai a, Lin He b, c, Qinghe Xing b, * a Department of Laboratory Medicine, Yongchuan Hospital, Chongqing Medical University, Chongqing, China b Children’s Hospital and Institutes of Biomedical Sciences, Fudan University, Shanghai, China c Bio-X Institute, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China d Department of Laboratory Medicine, The Affiliated Hospital of North Sichuan Medical College, Nanchong, China e Dujiangyan People’s Hospital, Cheng du, Sichuan, China Received: August 4, 2016; Accepted: September 28, 2016 Abstract p53-Transcriptional-regulated proteins interact with a large number of other signal transduction pathways in the cell, and a number of positive and negative autoregulatory feedback loops act upon the p53 response. P53 directly controls the POMC/a-MSH productions induced by ultra- violet (UV) and is associated with UV-independent pathological pigmentation. When identifying the causative gene of dyschromatosis univer- salis hereditaria (DUH), we found three mutations encoding amino acid substitutions in the gene SAM and