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

Marie Thérèse Bihoreau, Isabella Ceccherini, Julie Browne, Betina Kränzlin, Giovanni Romeo, G. Mark Lathrop, Michael R. James, Norbert Gretz

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)609-613
Number of pages5
JournalHuman Molecular Genetics
Volume6
Issue number4
DOIs
Publication statusPublished - Apr 1997

ASJC Scopus subject areas

  • Genetics

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