DESCRIPTION:

QTL Associated with Blood pressure. On Chromosome 7 with a LOD score= , p-value =1.00E-04. From a(n) F2 of SxR

LABEL:

QTL-Bp61-Rat-Chr 7

SCORE TYPE:

Binary

DATE ADDED:

2015-06-10

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Cicila GT, Rapp JP, Wang JM, St Lezin E, Ng SC, Kurtz TW

TITLE:

Linkage of 11 beta-hydroxylase mutations with altered steroid biosynthesis and blood pressure in the Dahl rat.

JOURNAL:

Nature genetics None None, Vol 3, pp. 346-53

ABSTRACT:

1. Nat Genet. 1993 Apr;3(4):346-53. Linkage of 11 beta-hydroxylase mutations with altered steroid biosynthesis and blood pressure in the Dahl rat. Cicila GT(1), Rapp JP, Wang JM, St Lezin E, Ng SC, Kurtz TW. Author information: (1)Department of Macromolecular Biochemistry, Bristol-Myers Squibb Pharmaceutical Research Institute, Princeton, New Jersey 08543. In Dahl salt-hypertension sensitive (S) and resistant (R) strains fed a high NaCl diet, 11 beta-hydroxylase polymorphisms cosegregate with the adrenal capacity to synthesize 18-hydroxy-11-deoxycorticosterone (18-OH-DOC) and blood pressure. The R rat carries an 11 beta-hydroxylase allele that: (i) differs from those of 12 other rat strains; (ii) is associated with a uniquely reduced capacity to synthesize 18-OH-DOC; and (iii) encodes 5 amino acid substitutions in the 11 beta-hydroxylase protein. The robust salt-resistance of the Dahl R rat may be due in part to reduced synthesis of the mineralocorticoid 18-OH-DOC stemming from mutations in the 11 beta-hydroxylase gene. 11 beta-hydroxylase, located on rat chromosome 7, is the first candidate gene identified in an animal model in which coding sequence mutations have been linked to the regulation of blood pressure. PMID: 7981756 [PubMed - indexed for MEDLINE] PUBMED: 7981756
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