PubMed ID:
24614073
Public Release Type:
Journal
Publication Year: 2014
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.
DOI:
https://doi.org/10.1038/ng.2918
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:
A Prospective Database of Infants With Cholestasis
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.