RGD Reference Report - Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.

Authors: Brown, JH  Bihoreau, MT  Hoffmann, S  Kranzlin, B  Tychinskaya, I  Obermuller, N  Podlich, D  Boehn, SN  Kaisaki, PJ  Megel, N  Danoy, P  Copley, RR  Broxholme, J  Witzgall, R  Lathrop, M  Gretz, N  Gauguier, D 
Citation: Brown JH, etal., J Am Soc Nephrol. 2005 Dec;16(12):3517-26. Epub 2005 Oct 5.
RGD ID: 11534987
Pubmed: PMID:16207829   (View Abstract at PubMed)
DOI: DOI:10.1681/ASN.2005060601   (Journal Full-text)

Autosomal dominant polycystic kidney disease (PKD) is the most common genetic disease that leads to kidney failure in humans. In addition to the known causative genes PKD1 and PKD2, there are mutations that result in cystic changes in the kidney, such as nephronophthisis, autosomal recessive polycystic kidney disease, or medullary cystic kidney disease. Recent efforts to improve the understanding of renal cystogenesis have been greatly enhanced by studies in rodent models of PKD. Genetic studies in the (cy/+) rat showed that PKD spontaneously develops as a consequence of a mutation in a gene different from the rat orthologs of PKD1 and PKD2 or other genes that are known to be involved in human cystic kidney diseases. This article reports the positional cloning and mutation analysis of the rat PKD gene, which revealed a C to T transition that replaces an arginine by a tryptophan at amino acid 823 in the protein sequence. It was determined that Pkdr1 is specifically expressed in renal proximal tubules and encodes a novel protein, SamCystin, that contains ankyrin repeats and a sterile alpha motif. The characterization of this protein, which does not share structural homologies with known polycystins, may give new insights into the pathophysiology of renal cyst development in patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
polycystic kidney disease  ISOAnks6 (Rattus norvegicus)11534987; 11534987 RGD 
polycystic kidney disease  IAGP 11534987 RGD 
polycystic kidney disease MODEL: spontaneousIAGP 11534987 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Anks6  (ankyrin repeat and sterile alpha motif domain containing 6)

Genes (Mus musculus)
Anks6  (ankyrin repeat and sterile alpha motif domain containing 6)

Genes (Homo sapiens)
ANKS6  (ankyrin repeat and sterile alpha motif domain containing 6)

Strains
PKD/Mhm  (PKD)

Objects referenced in this article
Gene Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease Rattus norvegicus

Additional Information