Genomic DNA was extracted from peripheral leukocytes using standard procedures and the coding regions and intron/exon boundaries of the ABCC8, KCNJ11, HNF4A
and HADH genes were amplified by polymerase chain reaction (primers available on request).
In this respect, we examined VHL and ABCC8, KCNJ11, HNF4A
genes in our case, however, no mutation was detected.
The genes HNF4a
, MAFB, and C-MAF are known to play a role in kidney development; therefore, the effects of eliminating these genes from Xenopus embryos, an amphibian model system of kidney development, are explored.
 Human Genes: PPAR, peroxisome proliferator activated receptor family; MEST, mesoderm specific transcript; LEP, leptin; FTO, [alpha]-ketoglutarate dependent dioxygenase; HNF1A, hepatocyte nuclear factor 1 homeoboxA; HNF4A
, hepatocyte nuclear factor 4a; GCK, glucokinase; HNF1B, hepatocyte nuclear factor 1 homeoboxB; KCNJ11, potassium voltage-gated channel subfamily J member 11; TRIM28, tripartite motif containing 28.
iRegulon  shows HNF4A
, CEBPB, ZNF740, and RORC as important transcription factors that may interfere with the expression of the observed genes for each cluster.
A binding site for the HNF4A
transcription factor is located 236 nt upstream of the SNP, and a short interspersed nuclear element (AluSx) is located 73 nt downstream.
Gene expression of hepatocyte-specific proteins (protein phosphatase 1 (PP1), human hepatocyte nuclear factor 4 (HNF4a
), albumin (ALB), alpha-fetoprotein (AFP), alpha-1 antitrypsin (A1AT)) was validated using qPCR.
Testing revealed an autosomal dominant, heterozygous missense mutation (c.991C>T; p.Arg331Cys) in the HNF4A
Experimental studies evaluating tubular cells of diabetic mice have found an aberrant DNA hypomethylation in genes involved in glucose metabolism, such as Agt (a marker of renal damage in diabetes) and Hnf4a
(a transcription factor regulating transporters for reabsorption).
Ga12 overexpressed in hepatocellular carcinoma reduces microRNA-122 expression via HNF4a
inactivation, which causes c-Met induction.
Zhu et al., "Positive regulation of hepatic miR-122 expression by HNF4a
," Journal of Hepatology, vol.
TCAC = tricarboxylic acid cycle; CAD = coronary artery disease; PPAR[gamma]C1[alpha] = peroxisome proliferator-activated receptor-[gamma] coactivator 1[alpha]; GCN1l1 = general control of amino acid synthesis 1-like 1; HNF4a
= hepatocyte nuclear factor 4[alpha]; O-GlcNAc = O-linked N-acetylglucosamine.