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- Title
Mutations in TJP2 cause progressive cholestatic liver disease.
- Authors
Sambrotta, Melissa; Strautnieks, Sandra; Papouli, Efterpi; Rushton, Peter; Clark, Barnaby E; Parry, David A; Logan, Clare V; Newbury, Lucy J; Kamath, Binita M; Ling, Simon; Grammatikopoulos, Tassos; Wagner, Bart E; Magee, John C; Sokol, Ronald J; Mieli-Vergani, Giorgina; Smith, Joshua D; Johnson, Colin A; McClean, Patricia; Simpson, Michael A; Knisely, A S
- Abstract
Elucidating genetic causes of cholestasis has proved to be important in understanding the physiology and pathophysiology of the liver. Here we show that protein-truncating mutations in the tight junction protein 2 gene (TJP2) cause failure of protein localization and disruption of tight-junction structure, leading to severe cholestatic liver disease. These findings contrast with those in the embryonic-lethal knockout mouse, highlighting differences in redundancy in junctional complexes between organs and species.
- Subjects
CHOLESTASIS; LIVER diseases; GENETIC mutation; LIVER physiology; CHEMICAL modification of proteins; LABORATORY mice; JUNCTIONAL complexes (Epithelium)
- Publication
Nature Genetics, 2014, Vol 46, Issue 4, p326
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.2918