Mutations in SEC63 cause autosomal dominant polycystic liver disease

Sonia Davila; Laszlo Furu; Ali G. Gharavi; Xin Tian; Tamehito Onoe; Qi Qian; Airong Li; Yiqiang Cai; Patrick S. Kamath; Bernard F. King; Pablo J. Azurmendi; Pia Tahvanainen; Helena Kääriäinen; Krister Höckerstedt; Olivier Devuyst; Yves Pirson; Rodolfo S. Martin; Richard P. Lifton; Esa Tahvanainen; Vicente E. Torres; Stefan Somlo

doi:10.1038/ng1357

Mutations in SEC63 cause autosomal dominant polycystic liver disease

Sonia Davila, Laszlo Furu, Ali G. Gharavi, Xin Tian, Tamehito Onoe, Qi Qian, Airong Li, Yiqiang Cai, Patrick S. Kamath, Bernard F. King, Pablo J. Azurmendi, Pia Tahvanainen, Helena Kääriäinen, Krister Höckerstedt, Olivier Devuyst, Yves Pirson, Rodolfo S. Martin, Richard P. Lifton, Esa Tahvanainen, Vicente E. TorresStefan Somlo

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186 Scopus citations

Abstract

Mutations in PRKCSH, encoding the β-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. These findings are suggestive of a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicate noncilial ER proteins in human polycystic disease.

Original language	English (US)
Pages (from-to)	575-577
Number of pages	3
Journal	Nature Genetics
Volume	36
Issue number	6
DOIs	https://doi.org/10.1038/ng1357
State	Published - Jun 2004

ASJC Scopus subject areas

Genetics

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Davila, S., Furu, L., Gharavi, A. G., Tian, X., Onoe, T., Qian, Q., Li, A., Cai, Y., Kamath, P. S., King, B. F., Azurmendi, P. J., Tahvanainen, P., Kääriäinen, H., Höckerstedt, K., Devuyst, O., Pirson, Y., Martin, R. S., Lifton, R. P., Tahvanainen, E., ... Somlo, S. (2004). Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nature Genetics, 36(6), 575-577. https://doi.org/10.1038/ng1357

Davila, S, Furu, L, Gharavi, AG, Tian, X, Onoe, T, Qian, Q, Li, A, Cai, Y, Kamath, PS , King, BF, Azurmendi, PJ, Tahvanainen, P, Kääriäinen, H, Höckerstedt, K, Devuyst, O, Pirson, Y, Martin, RS, Lifton, RP, Tahvanainen, E, Torres, VE & Somlo, S 2004, 'Mutations in SEC63 cause autosomal dominant polycystic liver disease', Nature Genetics, vol. 36, no. 6, pp. 575-577. https://doi.org/10.1038/ng1357

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title = "Mutations in SEC63 cause autosomal dominant polycystic liver disease",

abstract = "Mutations in PRKCSH, encoding the β-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. These findings are suggestive of a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicate noncilial ER proteins in human polycystic disease.",

author = "Sonia Davila and Laszlo Furu and Gharavi, {Ali G.} and Xin Tian and Tamehito Onoe and Qi Qian and Airong Li and Yiqiang Cai and Kamath, {Patrick S.} and King, {Bernard F.} and Azurmendi, {Pablo J.} and Pia Tahvanainen and Helena K{\"a}{\"a}ri{\"a}inen and Krister H{\"o}ckerstedt and Olivier Devuyst and Yves Pirson and Martin, {Rodolfo S.} and Lifton, {Richard P.} and Esa Tahvanainen and Torres, {Vicente E.} and Stefan Somlo",

note = "Funding Information: We thank the affected individuals and family members for their participation; K. Cornwell and P. Urban for help with recruiting study subjects; and R. Torra, X.M. Lens, M. Ott and Y. Pei for referring study subjects. The Keck Biotechnology Resource at Yale provided automated genotyping services and the Mayo Clinic General Clinical Research Center assisted with evaluations of study subjects. P.T, E.T, H.K. and K.H. received financial support from Mary and Georg C. Ehrnrooth Foundation. This work was supported by the US National Institutes of Health (S.S. and V.E.T.). S.S. is a member of the Yale Digestive Diseases Research Core Center; S.D., L.F, X.T., T.O, A.L., Y.C. and S.S. are members of the Yale Center for the Study of Polycystic Kidney Disease. Funding Information: We thank the families with FTC for participating in this study, H. Sprecher and I. Avidor for their help with the FGF23 ELISA assay and R. Fuhrer-Mor for DNA sequencing services. This study was supported in part by the Technion Research Fund (E.S.), the Chief Scientist Office-Israeli Ministry of Health (E.S. and R.B.) and grants from the US National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases (G.R.).",

year = "2004",

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doi = "10.1038/ng1357",

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T1 - Mutations in SEC63 cause autosomal dominant polycystic liver disease

AU - Davila, Sonia

AU - Furu, Laszlo

AU - Gharavi, Ali G.

AU - Tian, Xin

AU - Onoe, Tamehito

AU - Qian, Qi

AU - Li, Airong

AU - Cai, Yiqiang

AU - Kamath, Patrick S.

AU - King, Bernard F.

AU - Azurmendi, Pablo J.

AU - Tahvanainen, Pia

AU - Kääriäinen, Helena

AU - Höckerstedt, Krister

AU - Devuyst, Olivier

AU - Pirson, Yves

AU - Martin, Rodolfo S.

AU - Lifton, Richard P.

AU - Tahvanainen, Esa

AU - Torres, Vicente E.

AU - Somlo, Stefan

N1 - Funding Information: We thank the affected individuals and family members for their participation; K. Cornwell and P. Urban for help with recruiting study subjects; and R. Torra, X.M. Lens, M. Ott and Y. Pei for referring study subjects. The Keck Biotechnology Resource at Yale provided automated genotyping services and the Mayo Clinic General Clinical Research Center assisted with evaluations of study subjects. P.T, E.T, H.K. and K.H. received financial support from Mary and Georg C. Ehrnrooth Foundation. This work was supported by the US National Institutes of Health (S.S. and V.E.T.). S.S. is a member of the Yale Digestive Diseases Research Core Center; S.D., L.F, X.T., T.O, A.L., Y.C. and S.S. are members of the Yale Center for the Study of Polycystic Kidney Disease. Funding Information: We thank the families with FTC for participating in this study, H. Sprecher and I. Avidor for their help with the FGF23 ELISA assay and R. Fuhrer-Mor for DNA sequencing services. This study was supported in part by the Technion Research Fund (E.S.), the Chief Scientist Office-Israeli Ministry of Health (E.S. and R.B.) and grants from the US National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases (G.R.).

PY - 2004/6

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AB - Mutations in PRKCSH, encoding the β-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. These findings are suggestive of a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicate noncilial ER proteins in human polycystic disease.

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ER -

Mutations in SEC63 cause autosomal dominant polycystic liver disease

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