RGD Reference Report - Linkage of 11 beta-hydroxylase mutations with altered steroid biosynthesis and blood pressure in the Dahl rat. - Rat Genome Database

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

Authors: Cicila, GT  Rapp, JP  Wang, JM  St Lezin, E  Ng, SC  Kurtz, TW 
Citation: Cicila GT, etal., Nat Genet 1993 Apr;3(4):346-53.
RGD ID: 69709
Pubmed: (View Article at PubMed) PMID:7981756
DOI: Full-text: DOI:10.1038/ng0493-346

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.

Annotation

Disease Annotations    
hypertension  (IAGP)

Phenotype Annotations    

Mammalian Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Cyp11b1  (cytochrome P450, family 11, subfamily b, polypeptide 1)

Objects referenced in this article
Gene CYP11B1 cytochrome P450 family 11 subfamily B member 1 Homo sapiens
QTL Bp61 Blood pressure QTL 61 Rattus norvegicus

Additional Information