title: Location of the first genetic locus, PKDr1, controlling autosomal dominant polycystic kidney disease in Han:SPRD cy/+ rat.
abstract: 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.
authors.affiliation: The Wellcome Trust Centre for Human Genetics, University of Oxford, UK.
authors.forename: M T
authors.initials: MT
authors.lastname: Bihoreau
authors.forename: I
authors.initials: I
authors.lastname: Ceccherini
authors.forename: J
authors.initials: J
authors.lastname: Browne
authors.forename: B
authors.initials: B
authors.lastname: Kränzlin
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: G M
authors.initials: GM
authors.lastname: Lathrop
authors.forename: M R
authors.initials: MR
authors.lastname: James
authors.forename: N
authors.initials: N
authors.lastname: Gretz
mesh_terms: D000818:Animals; D001835:Body Weight; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D003433:Crosses, Genetic; D004195:Disease Models, Animal; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D009929:Organ Size; D010641:Phenotype; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D051381:Rats; D011922:Rats, Mutant Strains; D017208:Rats, Wistar; D014508:Urea / Q000378:metabolism
chemical_list: D014508:Urea