Locating a blood pressure quantitative trait locus within 117 kb on the rat genome: substitution mapping and renal expression analysis

Hypertension. 2005 Mar;45(3):451-9. doi: 10.1161/01.HYP.0000154678.64340.7f. Epub 2005 Jan 17.

Abstract

Previously, a blood pressure (BP) quantitative trait locus (QTL) on rat chromosome 9 (RNO9) was localized to a <2.4 cM interval using congenic strains generated by introgressing segments of RNO9 from the Dahl salt-resistant (R) rat into the background of the Dahl salt-sensitive (S) rat. Renal gene expression using Affymetrix gene chips was profiled on S and a congenic strain spanning the 2.4-cM BP QTL interval. This analysis identified 20 differentially expressed genes/expressed sequence tags. Of these, the locus with the greatest differential expression (30- to 35-fold) was regulated endocrine-specific protein 18 (Resp18), which also mapped in the 2.4-cM BP QTL interval. Additional substitution mapping located the QTL to <0.4 cM or approximately 493 kb. This newly defined QTL region still included Resp18. Nucleotide variants were identified between S and R genomic DNA of Resp18 in the coding, 5' regulatory and 3' untranslated regions. The coding sequence variation (T/C) occurs in exon 2 and predicts an amino acid change (Ile/Val) in the protein product. Resp18 was considered a differentially expressed positional candidate for the QTL. To fine-map the BP QTL, we constructed a congenic strain with a smaller introgressed region. Compared with the S rat, this strain (1) had significantly lower BP, (2) did not contain the R form of Resp18, and (3) did not retain the rather spectacular differential expression of Resp18. Together, these results demonstrate that a BP QTL independent of Resp18 exists within the newly defined 117-kb QTL region on RNO9.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Animals, Congenic
  • Blood Pressure / genetics*
  • Chromosome Mapping* / methods
  • Gene Expression Profiling
  • Gene Expression*
  • Genome*
  • Kidney / metabolism*
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci*
  • Rats
  • Rats, Inbred Dahl
  • Rats, Inbred Strains
  • Species Specificity

Substances

  • Nerve Tissue Proteins
  • regulated endocrine secretory protein 18