title: The P20R mutation of αB-crystallin diminishes its anti-apoptotic activity in human lens epithelial cells.
abstract: αB-crystallin acts as an anti-apoptosis protein in human lens epithelial (HLE) cells. We recently identified a missense mutation in αB-crystallin that changes proline 20 to an arginine (P20R) in a Chinese family with autosomal dominant congenital posterior polar cataract. The impact of the P20R mutation on the anti-apoptosis function remains unclear. To explore the anti-apoptotic activity of αB-crystallin wild type (αB-wt) and its P20R mutant under oxidative stress, HLE cells were transfected with αB-wt and αB-P20R constructs and expression was measured by western blotting. Flow cytometry and terminal deoxynucleotidyl transferase (TdT)-mediated dUTP digoxigenin nick end-labelling (TUNEL) staining were performed to investigate apoptosis. We found that αB-wt performed a dominant role in inhibiting stress-induced apoptosis, but this function was impeded in cells expressing αB-P20R. The P20R mutant of αB-crystallin exhibits diminished anti-apoptotic activity compared with the native protein.
authors.affiliation: Jinling Hospital, School of Medicine, Nanjing University, Nanjing, 210002, PR China.
authors.forename: Peiran
authors.initials: P
authors.lastname: Zhu
authors.affiliation: Jinling Hospital, School of Medicine, Nanjing University, Nanjing, 210002, PR China.
authors.forename: Weiwei
authors.initials: W
authors.lastname: Li
authors.affiliation: Jinling Hospital, School of Medicine, Nanjing University, Nanjing, 210002, PR China.
authors.forename: Mengxia
authors.initials: M
authors.lastname: Ni
authors.affiliation: Jinling Hospital, School of Medicine, Nanjing University, Nanjing, 210002, PR China.
authors.forename: Cui
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Jinling Hospital, School of Medicine, Nanjing University, Nanjing, 210002, PR China.
authors.forename: Shuaimei
authors.initials: S
authors.lastname: Liu
authors.affiliation: Jinling Hospital, School of Medicine, Nanjing University, Nanjing, 210002, PR China.
authors.forename: Qiuyue
authors.initials: Q
authors.lastname: Wu
authors.affiliation: Jinling Hospital, School of Medicine, Nanjing University, Nanjing, 210002, PR China.
authors.forename: Weijun
authors.initials: W
authors.lastname: Jiang
authors.affiliation: Jinling Hospital, School of Medicine, Nanjing University, Nanjing, 210002, PR China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Jinling Hospital, School of Medicine, Nanjing University, Nanjing, 210002, PR China.
authors.forename: Mingchao
authors.initials: M
authors.lastname: Zhang
authors.affiliation: Jinling Hospital, School of Medicine, Nanjing University, Nanjing, 210002, PR China.
authors.forename: Xiaojun
authors.initials: X
authors.lastname: Li
authors.affiliation: Jinling Hospital, School of Medicine, Nanjing University, Nanjing, 210002, PR China.
authors.forename: Yingxia
authors.initials: Y
authors.lastname: Cui
authors.affiliation: Jinling Hospital, School of Medicine, Nanjing University, Nanjing, 210002, PR China.
authors.forename: Chunyan
authors.initials: C
authors.lastname: Xue
authors.affiliation: Jinling Hospital, School of Medicine, Nanjing University, Nanjing, 210002, PR China. Electronic address: xiaxynju@163.com.
authors.forename: Xinyi
authors.initials: X
authors.lastname: Xia
mesh_terms: D019943:Amino Acid Substitution; D017209:Apoptosis / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D002386:Cataract / Q000235:genetics / Q000473:pathology; D002478:Cells, Cultured; D004847:Epithelial Cells / Q000166:cytology / Q000378:metabolism; D005434:Flow Cytometry; D006801:Humans; D020287:In Situ Nick-End Labeling; D007908:Lens, Crystalline / Q000166:cytology*; D020125:Mutation, Missense; D011392:Proline / Q000235:genetics; D038203:alpha-Crystallin B Chain / Q000235:genetics* / Q000378:metabolism
chemical_list: D038203:alpha-Crystallin B Chain; D001120:Arginine; D011392:Proline
keywords: Anti-apoptosis; Point mutation; αB-crystallin