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Publication Information
Affiliation
1] Institute of Liver Studies, Division of Transplantation Immunology and Mucosal Biology, King's College London School of Medicine, London, UK. [2] Paediatric Liver, GI and Nutrition Centre, King's College Hospital, London, UK.
Authors
Bull LN, Clark BE, Grammatikopoulos T, Johnson CA, Kamath BM, Knisely AS, Ling S, Logan CV, Magee JC, McClean P, Mieli-Vergani G, Newbury LJ, Papouli E, Parry DA, Rushton P, Sambrotta M, Simpson MA, Smith JD, Sokol RJ, Strautnieks S, Thompson RJ, University of Washington Center for Mendelian Genomics, Wagner BE
Studies
Citation
Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G, University of Washington Center for Mendelian Genomics, Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet 2014 Apr;46(4):326-8. Epub 2014 Mar 9.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.