RGD Reference Report - Location of the first genetic locus, PKDr1, controlling autosomal dominant polycystic kidney disease in Han:SPRD cy/+ rat. - Rat Genome Database

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Location of the first genetic locus, PKDr1, controlling autosomal dominant polycystic kidney disease in Han:SPRD cy/+ rat.

Authors: Bihoreau, MT  Ceccherini, I  Browne, J  Kranzlin, B  Romeo, G  Lathrop, GM  James, MR  Gretz, N 
Citation: Bihoreau MT, etal., Hum Mol Genet 1997 Apr;6(4):609-13.
RGD ID: 629573
Pubmed: (View Article at PubMed) PMID:9097967

The Han:SPRD cy/+ strain develops a form of slowly progressive disease that appears similar in many respects to that seen in the autosomal dominant polycystic kidney disease (ADPKD) in humans. We have performed a total genome scan in an experimental backcross population derived from affected Han:SPRD cy/+ rat (PKD) and non-affected Wistar Ottawa Karlsburg rat (WOK) using 117 microsatellite markers. The genetic dissection of PKD allowed us to map on rat chromosome 5, a quantitative trait locus (QTL) controlling PKD, kidney mass and plasma urea concentration. The homology region is likely to reside on human chromosome 8. The gene responsible for PKD in Han:SPRD cy/+ rat is neither PKD1, localised on human chromosome 16, nor PKD2, localised on human chromosome 4. Therefore, we propose that this new locus be denoted PKDr1. The detection of the PKDr1 locus and associated QTL should accelerate research into the genetic causes of ADPKD.



Disease Annotations    

Phenotype Annotations    

Mammalian Phenotype
Objects Annotated

QTLs
Kidm8  (Kidney mass QTL 8)

Objects referenced in this article
Gene Anks6 ankyrin repeat and sterile alpha motif domain containing 6 Rattus norvegicus
Strain PKD PKD Rattus norvegicus
Strain WOK null Rattus norvegicus

Additional Information