ArticleAmerican journal of physiology. Renal physiology2009
The A563T variation of the renal epithelial calcium channel TRPV5 among African Americans enhances calcium influx.
Article in American journal of physiology. Renal physiology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 35 citations in OpenAlex.
- Ethnic and seasonal variations in FGF-23 and markers of chronic kidney disease-mineral and bone disorder.Clinical kidney journal · 2024Article
- Is bone mineral density in middle-aged and elderly individuals associated with their dietary patterns? A study based on NHANES.Frontiers in nutrition · 2024Article
- Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.Urolithiasis · 2022Article
- Ligand-Binding Sites in Vanilloid-Subtype TRP Channels.Frontiers in pharmacology · 2022Review
- Association of TRPV5 gene polymorphism with calcium urolithiasis: a case-control study from West Bengal, India.World journal of urology · 2020Article
- Modeling the structural and dynamical changes of the epithelial calcium channel TRPV5 caused by the A563T variation based on the structure of TRPV6.Journal of biomolecular structure & dynamics · 2019Article
- Structural insight into TRPV5 channel function and modulation.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Association between single nucleotide polymorphism (rs4252424) in TRPV5 calcium channel gene and lead poisoning in Chinese workers.Molecular genetics & genomic medicine · 2019Article
- Comment on 'Dairy, calcium, vitamin D, and ovarian cancer risk in African-American women'.British journal of cancer · 2018Article
- SaRNA-mediated activation of TRPV5 reduces renal calcium oxalate deposition in rat via decreasing urinary calcium excretion.Urolithiasis · 2018Article
- The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5.Biochemical and biophysical research communications · 2017Article
- Why individual thermo sensation and pain perception varies? Clue of disruptive mutations in TRPVs from 2504 human genome data.Channels (Austin, Tex.) · 2016Article
- Molecular Modeling of the Structural and Dynamical Changes in Calcium Channel TRPV5 Induced by the African-Specific A563T Variation.Biochemistry · 2016Article
- A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients.Mediators of inflammation · 2015Article
- Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.PloS one · 2013Article
- Lead, calcium uptake, and related genetic variants in association with renal cell carcinoma risk in a cohort of male Finnish smokers.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2012Article
- Why is hypercalciuria absent at diagnosis in some children with ATP6V1B1 mutation?Pediatric nephrology (Berlin, Germany) · 2011Article
- Down-regulation of intestinal apical calcium entry channel TRPV6 by ubiquitin E3 ligase Nedd4-2.The Journal of biological chemistry · 2010Article
- Transient receptor potential channelopathies.Pflugers Archiv : European journal of physiology · 2010Review
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7 authors at 1 institution in 1 country.
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Abstract
The transient receptor potential cation channel, subfamily V, member 5 (TRPV5) gene, which encodes the Ca(2+) channel in the apical membrane of distal convoluted tubule and connecting tubule of the kidney, exhibits an unusually high frequency of nonsynonymous single nucleotide polymorphisms (SNPs) among African Americans. To assess the functional impacts of the nonsynonymous SNP variations in TRPV5, these variants were analyzed with radiotracer (45)Ca(2+) influx assay and the voltage-clamp technique using Xenopus laevis oocytes. Among the variations tested, including A8V, R154H, A563T, and L712F, the latter two significantly increased TRPV5-mediated Ca(2+) influx. The A563T variant, which exists in African Americans with relative high frequency, exhibited increased Ca(2+) influx at extracellular Ca(2+) from 0.01 to 2 mM despite a lower expression level at the plasma membrane. This variant also exhibited a reduction in Na(+) current as a result of increased sensitivity to extracellular Mg(2+). By substituting threonine-563 (Thr(563)) with serine or valine residue, the bulky side chain of Thr(563) was shown to facilitate Ca(2+) transport, whereas the hydroxyl group of Thr(563) is likely related to Mg(2+) sensitivity. The A563T variant was capable of increasing TRPV5-mediated Ca(2+) influx, even when it was expressed under conditions mimicking heterozygous or compound state with other variants. In conclusion, the A563T variant of TRPV5 significantly increased Ca(2+) influx by affecting the Ca(2+) permeation pathway. Thus the A563T variation in TRPV5 may contribute to the superior ability of renal Ca(2+) conservation in African Americans.
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