Journal of the American Society of Nephrology
2007 JASN IMPACT FACTOR 7.111 HOME   AUTHOR INFO   EDITORIAL BOARD   SUBSCRIBE   FEEDBACK   ALERTS   HELP 
    advanced
CURRENT ISSUE ARCHIVES JASN Express ONLINE SUBMISSION


Published ahead of print on January 19, 2005
J Am Soc Nephrol 16: 676-687, 2005
© 2005 American Society of Nephrology
doi: 10.1681/ASN.2003121025
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
ASN.2003121025v1
16/3/676    most recent
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Wolf, M. T.F.
Right arrow Articles by Hildebrandt, F.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Wolf, M. T.F.
Right arrow Articles by Hildebrandt, F.
Related Collections
Right arrowRelated Article

Genetics and Development

Expression and Phenotype Analysis of the Nephrocystin-1 and Nephrocystin-4 Homologs in Caenorhabditis elegans

Matthias T.F. Wolf*, Jeeyong Lee{dagger}, Franziska Panther*, Edgar A. Otto*, Kun-Liang Guan{dagger} and Friedhelm Hildebrandt*,{ddagger}

Departments of * Pediatrics and Communicable Diseases, {dagger} Biological Chemistry, and {ddagger} Human Genetics, University of Michigan, Ann Arbor, Michigan

Address correspondence to: Dr. Friedhelm Hildebrandt, Department of Pediatrics and Communicable Diseases, University of Michigan, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109-0646. Phone: 734-615-7285; Fax: 734-615-1386; E-mail: fhilde{at}umich.edu

Nephronophthisis (NPHP), an autosomal-recessive cystic kidney disease, is the most frequent genetic cause of end-stage renal failure in children. NPHP types 1 and 4 are caused by mutations in NPHP1 and NPHP4, encoding the proteins nephrocystin-1 and nephrocystin-4, respectively. Nephrocystin-1 and nephrocystin-4 are expressed in primary cilia of renal epithelial cells. NPHP1 and NPHP4 are highly conserved in Caenorhabditis elegans. However, this species does not have a kidney but an excretory system that consists of an excretory cell, an excretory gland cell, a duct cell, and a pore cell. Therefore, cell type–specific expression pattern and function of the nephrocystin homologs in C. elegans were of interest. Expression of green fluorescence protein fusion constructs that contain the C. elegans promoter regions for nph-1 and nph-4 was not found in the excretory system but in ciliated sensory neurons of the head (amphid neurons) and the tail in hermaphrodites (phasmid neurons) and males (sensory ray neurons). As the knockout phenotype for the PKD homologs lov-1 and pkd-2 shows impaired male mating behavior, RNAi knockdown animals were analyzed for this phenotype. A similar phenotype was found in the nph-1 and nph-4 RNAi knockdown animals compared with the lov-1 and pkd-2 knockout phenotype. Thus, it is suggested that renal cyst–causing genes may be part of a shared functional module, highly conserved in evolution. The NPHP homologs may be necessary for initial assembly of the cilium, whereas the polycystic kidney disease homologs may function as sensory transducers.


Related Article

This Month’s Highlights
J. Am. Soc. Nephrol. 2005 16: 565-566. [Full Text] [PDF]



This article has been cited by other articles:


Home page
 J. Am. Soc. Nephrol.Home page
F. Hildebrandt, M. Attanasio, and E. Otto
Nephronophthisis: Disease Mechanisms of a Ciliopathy
J. Am. Soc. Nephrol., January 1, 2009; 20(1): 23 - 35.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
M Adams, U M Smith, C V Logan, and C A Johnson
Recent advances in the molecular pathology, cell biology and genetics of ciliopathies
J. Med. Genet., May 1, 2008; 45(5): 257 - 267.
[Abstract] [Full Text] [PDF]

Home page
 JCBHome page
A. R. Jauregui, K. C.Q. Nguyen, D. H. Hall, and M. M. Barr
The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure
J. Cell Biol., March 5, 2008; 180(5): 973 - 988.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
D. P. McEwen, R. K. Koenekoop, H. Khanna, P. M. Jenkins, I. Lopez, A. Swaroop, and J. R. Martens
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons
PNAS, October 2, 2007; 104(40): 15917 - 15922.
[Abstract] [Full Text] [PDF]

Home page
 J. Am. Soc. Nephrol.Home page
F. Hildebrandt and W. Zhou
Nephronophthisis-Associated Ciliopathies
J. Am. Soc. Nephrol., June 1, 2007; 18(6): 1855 - 1871.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
B. W. Bisgrove and H. J. Yost
The roles of cilia in developmental disorders and disease
Development, November 1, 2006; 133(21): 4131 - 4143.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Physiol. Renal Physiol.Home page
J. R. Davenport and B. K. Yoder
An incredible decade for the primary cilium: a look at a once-forgotten organelle
Am J Physiol Renal Physiol, December 1, 2005; 289(6): F1159 - F1169.
[Abstract] [Full Text] [PDF]

Home page
 J. Cell Sci.Home page
M. E. Winkelbauer, J. C. Schafer, C. J. Haycraft, P. Swoboda, and B. K. Yoder
The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception
J. Cell Sci., December 1, 2005; 118(23): 5575 - 5587.
[Abstract] [Full Text] [PDF]


HOME CURRENT ISSUE ARCHIVES JASN Express ONLINE SUBMISSION AUTHOR INFO
EDITORIAL BOARD SUBSCRIBE FEEDBACK ALERTS HELP

Copyright © 2008 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673