Disease relevance of KCTD11

• KCTD11 expression in medulloblastoma is lower than in adult cerebellum and higher than in neural stem cells [1].
• The renin (REN) gene is a good candidate that could underlie an individual's genetic susceptibility to human essential hypertension (EHT) [2].
• Hypertension-induced cardiac hypertrophy in the REN rats was prevented by parallel ANT1 overexpression, however, and left ventricular function remarkably improved [3].
• CONCLUSIONS: Our study revealed RAS genes, ACE and AGT-M235T but not AGT-T174M, AGTR1 or REN genotypes, as contributing factors for DN in type 2 diabetes mellitus in Chinese [4].

High impact information on KCTD11

• We report here the identification of a novel gene, REN, upregulated by neurogenic signals (retinoic acid, EGF, and NGF) in pluripotent embryonal stem (ES) cells and neural progenitor cell lines in association with neurotypic differentiation [5].
• We propose that REN represents a novel component of the neurogenic signaling cascade induced by retinoic acid, EGF, and NGF, and is both a marker and a regulator of neuronal differentiation [5].
• REN: a novel, developmentally regulated gene that promotes neural cell differentiation [5].
• The aim of this study was to isolate fragments of the human renin (hREN) promoter able to direct tissue-specific and regulated expression of a LacZ reporter gene mimicking endogenous renin [6].
• We found that a 12-kb hREN promoter conferred high expression in the kidney at both embryonic and adult stages and that the transgene was expressed in the same cells as endogenous renin [6].

Biological context of KCTD11

• ARR was heritable (h(2)=0.40), had modest linkage to chromosome 11p (logarithm of the odds: 1.89), but was not associated with 17 common variants in REN (n=1729) [7].
• HIC1 gene expression was low ( approximately 100 times lower than KCTD11 expression) in MB, and low also in both adult cerebellum and neural stem cells [1].
• We demonstrate that hREN mRNA is identical under both conditions with respect to (1) utilization of the appropriate transcription start site, (2) processing of renin mRNA, and (3) utilization of the proper polyadenylation site and length of the poly-A tail [8].
• The influence on homologous and heterologous promoter activity of DNA extending 2.4 kb upstream of the human renin gene (REN) was examined by transient expression assay in JEG-3 cells, using the gene for chloramphenicol acetyl transferase (CAT) as reporter, and cotransfection with pCH110 to control for transfection efficiency [9].
• As renin is the key enzyme of the renin-angiotensin-aldosterone system, the renin gene (REN) represents a good candidate quantitative trait locus for investigations aimed at uncovering the molecular and genetic influences implicated in the molecular etiology of essential hypertension [10].

Associations of KCTD11 with chemical compounds

• The effect of acute plasma volume change in humans on serum erythropoietin [EPO]s, plasma active renin [REN] and plasma aldosterone [ALDO] concentrations was examined [11].

Analytical, diagnostic and therapeutic context of KCTD11

• Moreover, 24 hours after nephrectomy, human plasma renin fell to very low levels, indistinguishable from those of nontransgenic littermates, indicating that their circulating hREN is of renal origin [12].

References