A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution
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 chron...
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| Published in | American journal of human genetics Vol. 71; no. 5; pp. 1161 - 1167 |
|---|---|
| Main Authors | , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Chicago, IL
Elsevier Inc
01.11.2002
University of Chicago Press The American Society of Human Genetics |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 |
| DOI | 10.1086/344395 |
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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 evolution—for 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. |
|---|---|
| AbstractList | 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-Loeken 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 evolution--for 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. 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 evolution—for 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. 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 evolution--for 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. 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 evolution--for 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.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 evolution--for 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. 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 evolution—for 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. |
| Author | Nürnberg, Peter Otto, Edgar Hoefele, Julia Hildebrandt, Friedhelm Hiller, Karl S. Hennies, Hans C. Becker, Achim Birkenhäger, Ralf Mueller, Adelheid M. Schuermann, Maria J. Wolf, Matthias T.F. Sudbrak, Ralf Ruf, Rainer |
| AuthorAffiliation | Departments of 1 Pediatrics and 2 Human Genetics, University of Michigan, Ann Arbor; 3 Max Planck Institute for Molecular Genetics, Berlin; and 4 Max-Delbrueck Center for Molecular Medicine, Berlin-Buch, Germany |
| AuthorAffiliation_xml | – name: Departments of 1 Pediatrics and 2 Human Genetics, University of Michigan, Ann Arbor; 3 Max Planck Institute for Molecular Genetics, Berlin; and 4 Max-Delbrueck Center for Molecular Medicine, Berlin-Buch, Germany |
| Author_xml | – sequence: 1 givenname: Edgar surname: Otto fullname: Otto, Edgar organization: Department of Pediatrics, University of Michigan, Ann Arbor – sequence: 2 givenname: Julia surname: Hoefele fullname: Hoefele, Julia organization: Department of Pediatrics, University of Michigan, Ann Arbor – sequence: 3 givenname: Rainer surname: Ruf fullname: Ruf, Rainer organization: Department of Pediatrics, University of Michigan, Ann Arbor – sequence: 4 givenname: Adelheid M. surname: Mueller fullname: Mueller, Adelheid M. organization: Department of Pediatrics, University of Michigan, Ann Arbor – sequence: 5 givenname: Karl S. surname: Hiller fullname: Hiller, Karl S. organization: Department of Pediatrics, University of Michigan, Ann Arbor – sequence: 6 givenname: Matthias T.F. surname: Wolf fullname: Wolf, Matthias T.F. organization: Department of Pediatrics, University of Michigan, Ann Arbor – sequence: 7 givenname: Maria J. surname: Schuermann fullname: Schuermann, Maria J. organization: Department of Pediatrics, University of Michigan, Ann Arbor – sequence: 8 givenname: Achim surname: Becker fullname: Becker, Achim organization: Department of Pediatrics, University of Michigan, Ann Arbor – sequence: 9 givenname: Ralf surname: Birkenhäger fullname: Birkenhäger, Ralf organization: Department of Pediatrics, University of Michigan, Ann Arbor – sequence: 10 givenname: Ralf surname: Sudbrak fullname: Sudbrak, Ralf organization: Max Planck Institute for Molecular Genetics, Berlin – sequence: 11 givenname: Hans C. surname: Hennies fullname: Hennies, Hans C. organization: Max-Delbrueck Center for Molecular Medicine, Berlin-Buch, Germany – sequence: 12 givenname: Peter surname: Nürnberg fullname: Nürnberg, Peter organization: Max-Delbrueck Center for Molecular Medicine, Berlin-Buch, Germany – sequence: 13 givenname: Friedhelm surname: Hildebrandt fullname: Hildebrandt, Friedhelm email: fhilde@umich.edu organization: Department of Pediatrics, University of Michigan, Ann Arbor |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14038534$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/12205563$$D View this record in MEDLINE/PubMed |
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| Keywords | Human Kidney disease High resolution Urinary system disease Retinopathy Linkage Family study Pathogenesis Gene product Retinitis pigmentosa Clinical form Juvenile nephronophtisis Genetic determinism Biological activity Genetic disease Eye disease Gene Degenerative disease Mutation Child Haplotype |
| Language | English |
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| Snippet | Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal... |
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| SubjectTerms | Adaptor Proteins, Signal Transducing Biological and medical sciences Carrier Proteins - genetics Haplotypes Humans Kidney Diseases, Cystic - genetics Medical sciences Membrane Proteins Molecular Sequence Data Nephrology. Urinary tract diseases Nephropathies. Renovascular diseases. Renal failure Organ Specificity Proteins Retinitis Pigmentosa - genetics Sequence Analysis, DNA Tubulopathies |
| Title | A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution |
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