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

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

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
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
Publication status	Published - 31 May 1996
Externally published	Yes

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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

@article{9487974770504f6f9c77327395224918,

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",

month = may,

day = "31",

doi = "10.1126/science.272.5266.1339",

language = "English",

volume = "272",

pages = "1339--1342",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

number = "5266",

}

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

TY - JOUR

T1 - PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

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

Y1 - 1996/5/31

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.

UR - https://www.scopus.com/pages/publications/15844385078

U2 - 10.1126/science.272.5266.1339

DO - 10.1126/science.272.5266.1339

M3 - Article

C2 - 8650545

AN - SCOPUS:15844385078

SN - 0036-8075

VL - 272

SP - 1339

EP - 1342

JO - Science

JF - Science

IS - 5266

ER -

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

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