RGD Reference Report - Mutation within the hinge region of the transcription factor Nr2f2 attenuates salt-sensitive hypertension. - Rat Genome Database

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Mutation within the hinge region of the transcription factor Nr2f2 attenuates salt-sensitive hypertension.

Authors: Kumarasamy, S  Waghulde, H  Gopalakrishnan, K  Mell, B  Morgan, E  Joe, B 
Citation: Kumarasamy S, etal., Nat Commun. 2015 Feb 17;6:6252. doi: 10.1038/ncomms7252.
RGD ID: 10401852
Pubmed: PMID:25687237   (View Abstract at PubMed)
PMCID: PMC4486351   (View Article at PubMed Central)
DOI: DOI:10.1038/ncomms7252   (Journal Full-text)

Genome-wide association studies (GWAS) have prioritized a transcription factor, nuclear receptor 2 family 2 (NR2F2), as being associated with essential hypertension in humans. Here we provide evidence that validates this association and indicates that Nr2f2 is a genetic determinant of blood pressure (BP). Using the zinc-finger nuclease technology, the generation of a targeted Nr2f2-edited rat model is reported. The resulting gene-edited rats have a 15 bp deletion in exon 2 leading to a five-amino-acid deletion in the hinge region of the mutant Nr2f2 protein. Both systolic and diastolic blood pressures of the Nr2f2(mutant) rats are significantly lower than controls. Because the hinge region of Nr2f2 is required for interaction with Friend of Gata2 (Fog2), protein-protein interaction is examined. Interaction of Nr2f2(mutant) protein with Fog2 is greater than that with the wild-type Nr2f2, indicating that the extent of interaction between these two transcription factors critically influences BP.



Disease Annotations    
hypertension  (IMP,ISO)

Gene Ontology Annotations    

Biological Process

Molecular Function

Phenotype Annotations    

Mammalian Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Nr2f2  (nuclear receptor subfamily 2, group F, member 2)
Nr2f2em1Mcwi  (nuclear receptor subfamily 2, group F, member 2; zinc finger nuclease induced mutant 1, Medical College of Wisconsin)
Zfpm2  (zinc finger protein, multitype 2)

Genes (Mus musculus)
Nr2f2  (nuclear receptor subfamily 2, group F, member 2)

Genes (Homo sapiens)
NR2F2  (nuclear receptor subfamily 2 group F member 2)

Strains
SS-Nr2f2em1Mcwi  (NA)


Additional Information