Mutations in TJP2 cause progressive cholestatic liver disease

Melissa Sambrotta; Sandra Strautnieks; Efterpi Papouli; Peter Rushton; Barnaby E. Clark; David A. Parry; Clare V. Logan; Lucy J. Newbury; Binita M. Kamath; Simon Ling; Tassos Grammatikopoulos; Bart E. Wagner; John C. Magee; Ronald J. Sokol; Giorgina Mieli-Vergani; Joshua D. Smith; Colin A. Johnson; Patricia McClean; Michael A. Simpson; A. S. Knisely; Laura N. Bull; Richard J. Thompson

doi:10.1038/ng.2918

Mutations in TJP2 cause progressive cholestatic liver disease

Melissa Sambrotta^*, Sandra Strautnieks, Efterpi Papouli, Peter Rushton, Barnaby E. Clark, David A. Parry, Clare V. Logan, Lucy J. Newbury, Binita M. Kamath, Simon Ling, Tassos Grammatikopoulos, Bart E. Wagner, John C. Magee, Ronald J. Sokol, Giorgina Mieli-Vergani, Joshua D. Smith, Colin A. Johnson, Patricia McClean, Michael A. Simpson, A. S. KniselyLaura N. Bull, Richard J. Thompson

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract / Description of output

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.

Original language	English
Pages (from-to)	326-328
Number of pages	3
Journal	Nature Genetics
Volume	46
Issue number	4
DOIs	https://doi.org/10.1038/ng.2918
Publication status	Published - Apr 2014

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Sambrotta, M., Strautnieks, S., Papouli, E., Rushton, P., Clark, B. E., Parry, D. A., Logan, C. V., Newbury, L. J., Kamath, B. M., Ling, S., Grammatikopoulos, T., Wagner, B. E., Magee, J. C., Sokol, R. J., Mieli-Vergani, G., Smith, J. D., Johnson, C. A., McClean, P., Simpson, M. A., ... Thompson, R. J. (2014). Mutations in TJP2 cause progressive cholestatic liver disease. Nature Genetics, 46(4), 326-328. https://doi.org/10.1038/ng.2918

@article{86e529807f234ec8af299762386bdfbe,

title = "Mutations in TJP2 cause progressive cholestatic liver disease",

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.",

author = "Melissa Sambrotta and Sandra Strautnieks and Efterpi Papouli and Peter Rushton and Clark, {Barnaby E.} and Parry, {David A.} and Logan, {Clare V.} and Newbury, {Lucy J.} and Kamath, {Binita M.} and Simon Ling and Tassos Grammatikopoulos and Wagner, {Bart E.} and Magee, {John C.} and Sokol, {Ronald J.} and Giorgina Mieli-Vergani and Smith, {Joshua D.} and Johnson, {Colin A.} and Patricia McClean and Simpson, {Michael A.} and Knisely, {A. S.} and Bull, {Laura N.} and Thompson, {Richard J.}",

year = "2014",

month = apr,

doi = "10.1038/ng.2918",

language = "English",

volume = "46",

pages = "326--328",

journal = "Nature Genetics",

issn = "1061-4036",

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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, Smith, JD, Johnson, CA, McClean, P, Simpson, MA, Knisely, AS, Bull, LN & Thompson, RJ 2014, 'Mutations in TJP2 cause progressive cholestatic liver disease', Nature Genetics, vol. 46, no. 4, pp. 326-328. https://doi.org/10.1038/ng.2918

TY - JOUR

T1 - Mutations in TJP2 cause progressive cholestatic liver disease

AU - Sambrotta, Melissa

AU - Strautnieks, Sandra

AU - Papouli, Efterpi

AU - Rushton, Peter

AU - Clark, Barnaby E.

AU - Parry, David A.

AU - Logan, Clare V.

AU - Newbury, Lucy J.

AU - Kamath, Binita M.

AU - Ling, Simon

AU - Grammatikopoulos, Tassos

AU - Wagner, Bart E.

AU - Magee, John C.

AU - Sokol, Ronald J.

AU - Mieli-Vergani, Giorgina

AU - Smith, Joshua D.

AU - Johnson, Colin A.

AU - McClean, Patricia

AU - Simpson, Michael A.

AU - Knisely, A. S.

AU - Bull, Laura N.

AU - Thompson, Richard J.

PY - 2014/4

Y1 - 2014/4

N2 - 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.

AB - 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.

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U2 - 10.1038/ng.2918

DO - 10.1038/ng.2918

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AN - SCOPUS:84898057518

SN - 1061-4036

VL - 46

SP - 326

EP - 328

JO - Nature Genetics

JF - Nature Genetics

IS - 4

ER -

Mutations in TJP2 cause progressive cholestatic liver disease

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