Human Molecular Genetics, Vol 6, 609-613, Copyright © 1997 by Oxford University Press
MT Bihoreau, I Ceccherini, J Browne, B Kranzlin, G Romeo, GM Lathrop, MR James and N Gretz
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.
ARTICLES
Location of the first genetic locus, PKDr1, controlling autosomal dominant polycystic kidney disease in Han:SPRD cy/+ rat
The Wellcome Trust Centre for Human Genetics, University of Oxford, UK.
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