PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

Toshio Mochizuki; Guanqing Wu; Tomohito Hayashi; Stavroulla L. Xenophontos; Barbera Veldhuisen; Jasper J. Saris; David M. Reynolds; Yiqiang Cai; Patricia A. Gabow; Alkis Pierides; William J. Kimberling; Martijn H. Breuning; C. Constantinou Deltas; Dorien J.M. Peters; Stefan Somlo

doi:10.1126/science.272.5266.1339

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

Toshio Mochizuki, Guanqing Wu, Tomohito Hayashi, Stavroulla L. Xenophontos, Barbera Veldhuisen, Jasper J. Saris, David M. Reynolds, Yiqiang Cai, Patricia A. Gabow, Alkis Pierides, William J. Kimberling, Martijn H. Breuning, C. Constantinou Deltas, Dorien J.M. Peters, Stefan Somlo

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Abstract

A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.

Original language	English (US)
Pages (from-to)	1339-1342
Number of pages	4
Journal	Science
Volume	272
Issue number	5266
DOIs	https://doi.org/10.1126/science.272.5266.1339
State	Published - May 31 1996

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Mochizuki, T., Wu, G., Hayashi, T., Xenophontos, S. L., Veldhuisen, B., Saris, J. J., Reynolds, D. M., Cai, Y., Gabow, P. A., Pierides, A., Kimberling, W. J., Breuning, M. H., Deltas, C. C., Peters, D. J. M., & Somlo, S. (1996). PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science, 272(5266), 1339-1342. https://doi.org/10.1126/science.272.5266.1339

Mochizuki, T, Wu, G, Hayashi, T, Xenophontos, SL, Veldhuisen, B, Saris, JJ, Reynolds, DM, Cai, Y, Gabow, PA, Pierides, A, Kimberling, WJ, Breuning, MH, Deltas, CC, Peters, DJM & Somlo, S 1996, 'PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein', Science, vol. 272, no. 5266, pp. 1339-1342. https://doi.org/10.1126/science.272.5266.1339

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title = "PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein",

abstract = "A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.",

author = "Toshio Mochizuki and Guanqing Wu and Tomohito Hayashi and Xenophontos, {Stavroulla L.} and Barbera Veldhuisen and Saris, {Jasper J.} and Reynolds, {David M.} and Yiqiang Cai and Gabow, {Patricia A.} and Alkis Pierides and Kimberling, {William J.} and Breuning, {Martijn H.} and Deltas, {C. Constantinou} and Peters, {Dorien J.M.} and Stefan Somlo",

year = "1996",

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doi = "10.1126/science.272.5266.1339",

language = "English (US)",

volume = "272",

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AU - Mochizuki, Toshio

AU - Wu, Guanqing

AU - Hayashi, Tomohito

AU - Xenophontos, Stavroulla L.

AU - Veldhuisen, Barbera

AU - Saris, Jasper J.

AU - Reynolds, David M.

AU - Cai, Yiqiang

AU - Gabow, Patricia A.

AU - Pierides, Alkis

AU - Kimberling, William J.

AU - Breuning, Martijn H.

AU - Deltas, C. Constantinou

AU - Peters, Dorien J.M.

AU - Somlo, Stefan

PY - 1996/5/31

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N2 - A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.

AB - A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.

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PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

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