An ancestral haplotype defines susceptibility to doxorubicin nephropathy in the laboratory mouse

J Am Soc Nephrol. 2006 Jul;17(7):1796-800. doi: 10.1681/ASN.2005121373. Epub 2006 Jun 14.

Abstract

Haplotype analysis was used to refine of the DOXNPH locus, which harbors the susceptibility gene for doxorubicin (DOX; Adriamycin) nephropathy, a Mendelian form of selective podocyte injury. Analysis of haplotype structure in three strains with contrasting susceptibility (148 single-nucleotide polymorphisms at 101-kb spacing) was complementary to analysis of recombinants in 176 F2 mice. For example, haplotype analysis but not meiotic mapping could exclude the Abcc1 multidrug transporter, and this was confirmed further by phenotypic evaluation of Abcc1 null mice. Next, comparison of haplotype structure (55 single-nucleotide polymorphisms at 44-kb spacing) with phenotype in 15 inbred strains revealed a risk haplotype that was shared by susceptible strains (P = 0.00017), thereby reducing the DOXNPH region to a 1.3-Mb interval. These data demonstrate that susceptibility to DOX nephropathy represents a founder mutation in the laboratory mouse. Haplotype analysis can be used for identification of the DOXNPH gene and prediction of strain susceptibility pattern.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Animals
  • Chromosome Mapping*
  • Chromosomes, Mammalian
  • Disease Models, Animal
  • Doxorubicin / toxicity*
  • Drug Resistance, Multiple / genetics
  • Female
  • Genetic Predisposition to Disease
  • Haplotypes*
  • Kidney Diseases / chemically induced
  • Kidney Diseases / genetics*
  • Male
  • Mice
  • Mice, Inbred Strains / genetics*
  • Multidrug Resistance-Associated Proteins / genetics
  • Mutation
  • Phenotype
  • Podocytes / pathology
  • Polymorphism, Single Nucleotide

Substances

  • Abcc5 protein, mouse
  • Multidrug Resistance-Associated Proteins
  • Doxorubicin
  • multidrug resistance-associated protein 1