Journal Article

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 and Norbert Gretz

in Human Molecular Genetics

Volume 6, issue 4, pages 609-613
Published in print April 1997 | ISSN: 0964-6906
Published online April 1997 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/6.4.609
Location of the First Genetic Locus, PKDr1, Controlling Autosomal Dominant Polycystic Kidney Disease in Han:SPRD cy/+ rat

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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.

Journal Article.  3033 words.  Illustrated.

Subjects: Genetics and Genomics

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