The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway

Maureen M. Barr, John DeModena, Douglas Braun, Ken C.Q. Nguyen, David H. Hall, Paul W. Sternberg

Research output: Contribution to journalArticle

219 Citations (Scopus)

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) strikes I in 1000 individuals and often results in end-stage renal failure. Mutations in either PKD1 or PKD2 account for 95% of all cases [1-3]. It has recently been demonstrated that polycystin-1 and polycystin-2 (encoded by PKD1 and PKD2, respectively) assemble to form a cation channel in vitro [4]. Here we determine that the Caenorhabditis elegans PKD1 and PKD2 homologs, lov-1 [5] and pkd-2, act in the same pathway in vivo. Mutations in either lov-1 or pkd-2 result in identical male sensory behavioral defects. Also, pkd-2;lov-1 double mutants are no more severe than either of the single mutants, indicating that lov-1 and pkd-2 act together. LOV-1::GFP and PKD-2::GFP are expressed in the same male-specific sensory neurons and are concentrated in cilia and cell bodies. Cytoplasmic, nonnuclear staining in cell bodies is punctate, suggesting that one pool of PKD-2 is localized to intracellular membranes while another is found in sensory cilia. In contrast to defects in the C. elegans autosomal recessive PKD gene osm-5 [6-8], the cilia of lov-1 and pkd-2 single mutants and of lov-1;pkd-2 double mutants are normal as judged by electron microscopy, demonstrating that lov-1 and pkd-2 are not required for ultrastructural development of male-specific sensory cilia.

Original languageEnglish (US)
Pages (from-to)1341-1346
Number of pages6
JournalCurrent Biology
Volume11
Issue number17
DOIs
StatePublished - Sep 4 2001

Fingerprint

Autosomal Dominant Polycystic Kidney
Cilia
Caenorhabditis elegans
cilia
Genes
Cells
mutants
Defects
Electron microscopy
Neurons
Cations
genes
Membranes
mutation
Recessive Genes
Intracellular Membranes
Mutation
sensory neurons
recessive genes
Sensory Receptor Cells

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)

Cite this

The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway. / Barr, Maureen M.; DeModena, John; Braun, Douglas; Nguyen, Ken C.Q.; Hall, David H.; Sternberg, Paul W.

In: Current Biology, Vol. 11, No. 17, 04.09.2001, p. 1341-1346.

Research output: Contribution to journalArticle

Barr, Maureen M. ; DeModena, John ; Braun, Douglas ; Nguyen, Ken C.Q. ; Hall, David H. ; Sternberg, Paul W. / The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway. In: Current Biology. 2001 ; Vol. 11, No. 17. pp. 1341-1346.
@article{3c889e015dfb4992b88d270b5019807a,
title = "The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway",
abstract = "Autosomal dominant polycystic kidney disease (ADPKD) strikes I in 1000 individuals and often results in end-stage renal failure. Mutations in either PKD1 or PKD2 account for 95{\%} of all cases [1-3]. It has recently been demonstrated that polycystin-1 and polycystin-2 (encoded by PKD1 and PKD2, respectively) assemble to form a cation channel in vitro [4]. Here we determine that the Caenorhabditis elegans PKD1 and PKD2 homologs, lov-1 [5] and pkd-2, act in the same pathway in vivo. Mutations in either lov-1 or pkd-2 result in identical male sensory behavioral defects. Also, pkd-2;lov-1 double mutants are no more severe than either of the single mutants, indicating that lov-1 and pkd-2 act together. LOV-1::GFP and PKD-2::GFP are expressed in the same male-specific sensory neurons and are concentrated in cilia and cell bodies. Cytoplasmic, nonnuclear staining in cell bodies is punctate, suggesting that one pool of PKD-2 is localized to intracellular membranes while another is found in sensory cilia. In contrast to defects in the C. elegans autosomal recessive PKD gene osm-5 [6-8], the cilia of lov-1 and pkd-2 single mutants and of lov-1;pkd-2 double mutants are normal as judged by electron microscopy, demonstrating that lov-1 and pkd-2 are not required for ultrastructural development of male-specific sensory cilia.",
author = "Barr, {Maureen M.} and John DeModena and Douglas Braun and Nguyen, {Ken C.Q.} and Hall, {David H.} and Sternberg, {Paul W.}",
year = "2001",
month = "9",
day = "4",
doi = "10.1016/S0960-9822(01)00423-7",
language = "English (US)",
volume = "11",
pages = "1341--1346",
journal = "Current Biology",
issn = "0960-9822",
publisher = "Cell Press",
number = "17",

}

TY - JOUR

T1 - The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway

AU - Barr, Maureen M.

AU - DeModena, John

AU - Braun, Douglas

AU - Nguyen, Ken C.Q.

AU - Hall, David H.

AU - Sternberg, Paul W.

PY - 2001/9/4

Y1 - 2001/9/4

N2 - Autosomal dominant polycystic kidney disease (ADPKD) strikes I in 1000 individuals and often results in end-stage renal failure. Mutations in either PKD1 or PKD2 account for 95% of all cases [1-3]. It has recently been demonstrated that polycystin-1 and polycystin-2 (encoded by PKD1 and PKD2, respectively) assemble to form a cation channel in vitro [4]. Here we determine that the Caenorhabditis elegans PKD1 and PKD2 homologs, lov-1 [5] and pkd-2, act in the same pathway in vivo. Mutations in either lov-1 or pkd-2 result in identical male sensory behavioral defects. Also, pkd-2;lov-1 double mutants are no more severe than either of the single mutants, indicating that lov-1 and pkd-2 act together. LOV-1::GFP and PKD-2::GFP are expressed in the same male-specific sensory neurons and are concentrated in cilia and cell bodies. Cytoplasmic, nonnuclear staining in cell bodies is punctate, suggesting that one pool of PKD-2 is localized to intracellular membranes while another is found in sensory cilia. In contrast to defects in the C. elegans autosomal recessive PKD gene osm-5 [6-8], the cilia of lov-1 and pkd-2 single mutants and of lov-1;pkd-2 double mutants are normal as judged by electron microscopy, demonstrating that lov-1 and pkd-2 are not required for ultrastructural development of male-specific sensory cilia.

AB - Autosomal dominant polycystic kidney disease (ADPKD) strikes I in 1000 individuals and often results in end-stage renal failure. Mutations in either PKD1 or PKD2 account for 95% of all cases [1-3]. It has recently been demonstrated that polycystin-1 and polycystin-2 (encoded by PKD1 and PKD2, respectively) assemble to form a cation channel in vitro [4]. Here we determine that the Caenorhabditis elegans PKD1 and PKD2 homologs, lov-1 [5] and pkd-2, act in the same pathway in vivo. Mutations in either lov-1 or pkd-2 result in identical male sensory behavioral defects. Also, pkd-2;lov-1 double mutants are no more severe than either of the single mutants, indicating that lov-1 and pkd-2 act together. LOV-1::GFP and PKD-2::GFP are expressed in the same male-specific sensory neurons and are concentrated in cilia and cell bodies. Cytoplasmic, nonnuclear staining in cell bodies is punctate, suggesting that one pool of PKD-2 is localized to intracellular membranes while another is found in sensory cilia. In contrast to defects in the C. elegans autosomal recessive PKD gene osm-5 [6-8], the cilia of lov-1 and pkd-2 single mutants and of lov-1;pkd-2 double mutants are normal as judged by electron microscopy, demonstrating that lov-1 and pkd-2 are not required for ultrastructural development of male-specific sensory cilia.

UR - http://www.scopus.com/inward/record.url?scp=0035806961&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035806961&partnerID=8YFLogxK

U2 - 10.1016/S0960-9822(01)00423-7

DO - 10.1016/S0960-9822(01)00423-7

M3 - Article

C2 - 11553327

AN - SCOPUS:0035806961

VL - 11

SP - 1341

EP - 1346

JO - Current Biology

JF - Current Biology

SN - 0960-9822

IS - 17

ER -