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  A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

Otto, E., Hoefele, J., Ruf, R., Mueller, A. M., Hiller, K. S., Wolf, M. T. F., et al. (2002). A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution. American Journal of Human Genetics, 71(5), 1161-1167.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8BB8-C Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8BB9-A
Genre: Journal Article
Alternative Title : Am J Hum Genet

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 Creators:
Otto, Edgar, Author
Hoefele, Julia, Author
Ruf, Rainer, Author
Mueller, Adelheid M., Author
Hiller, Karl S., Author
Wolf, Matthias T. F., Author
Schuermann, Maria J., Author
Becker, Achim, Author
Birkenhäger, Ralf, Author
Sudbrak, Ralf1, Author              
Hennies, Hans C., Author
Nürnberg, Peter, Author
Hildebrandt, Friedhelm, Author
Affiliations:
1Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

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 Abstract: Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults. The most prominent histologic feature of NPHP consists of development of renal fibrosis, which, in chronic renal failure of any origin, represents the pathogenic event correlated most strongly to loss of renal function. Four gene loci for NPHP have been mapped to chromosomes 2q13 (NPHP1), 9q22 (NPHP2), 3q22 (NPHP3), and 1p36 (NPHP4). At all four loci, linkage has also been demonstrated in families with the association of NPHP and retinitis pigmentosa, known as "Senior-Løken syndrome" (SLS). Identification of the gene for NPHP type 1 had revealed nephrocystin as a novel docking protein, providing new insights into mechanisms of cell-cell and cell-matrix signaling. We here report identification of the gene (NPHP4) causing NPHP type 4, by use of high-resolution haplotype analysis and by demonstration of nine likely loss-of-function mutations in six affected families. NPHP4 encodes a novel protein, nephroretinin, that is conserved in evolutionfor example, in the nematode Caenorhabditis elegans. In addition, we demonstrate two loss-of-function mutations of NPHP4 in patients from two families with SLS. Thus, we have identified a novel gene with critical roles in renal tissue architecture and ophthalmic function.

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Language(s): eng - English
 Dates: 2002-08-29
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 27223
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Title: American Journal of Human Genetics
  Alternative Title : Am J Hum Genet
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 71 (5) Sequence Number: - Start / End Page: 1161 - 1167 Identifier: -