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Nature Research, Nature Genetics, 4(46), p. 326-328, 2014

DOI: 10.1038/ng.2918

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Mutations in TJP2 cause progressive cholestatic liver disease

Journal article published in 2014 by Melissa Sambrotta, Sandra Strautnieks, Efterpi Papouli, Peter Rushton, Barnaby E. Clark, David A. Parry ORCID, Clare V. Logan ORCID, Lucy J. Newbury, Binita M. Kamath, Simon Ling, Tassos Grammatikopoulos, Bart E. Wagner, John C. Magee, Ronald J. Sokol, Giorgina Mieli-Vergani and other authors.
This paper is available in a repository.
This paper is available in a repository.

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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.