In Silico Screening and Molecular Dynamic Study of Nonsynonymous Single Nucleotide Polymorphisms Associated with Kidney Stones in the SLC26A6 Gene

The Journal of Urology
Xiuli LuBing Gao

Abstract

SLC26A6 is a multifunctional anion transporter with a critical physiological role in the transport of oxalate anions. Recognizing a genetic variant of SLC26A6 would advance our understanding of oxalate transport in the formation of calcium oxalate stones. All nsSNPs (nonsynonymous single nucleotide polymorphisms) reported in human SLC26A6 were investigated using 4 in silico tools, including SIFT (Sorting Intolerant From Tolerant), PROVEAN (Protein Variation Effect Analyzer), PhD-SNP (Predictor of human Deleterious Single Nucleotide Polymorphisms) and MutPred. A total of 426 subjects, including 225 with kidney stones and 201 healthy controls, were included in study to genotype the candidate disease associated nsSNP using allele specific polymerase chain reaction. Furthermore, the structural consequences due to the mutation were assessed using homology modeling and molecular dynamics simulation methods. The nsSNP rs184187143 was identified as a more probable disease associated variant in the SLC26A6 gene by in silico screening. The C allele carrier showed a 6.1-fold increased kidney stone risk compared with G allele carriers in the nsSNP (OR 6.1, 95% CI 1.36-27.38, p = 0.007). We found that the mutation from arginine to glycine l...Continue Reading

References

Jun 23, 1998·Lancet·C Y Pak
Nov 21, 2002·Human Mutation·Siru MäkeläPia Höglund
Mar 30, 2004·Nature Cell Biology·Shigeru B H KoShmuel Muallem
Mar 15, 2006·Nature Genetics·Zhirong JiangPeter S Aronson
Jun 7, 2006·The Journal of Biological Chemistry·Nakako Shibagaki, Arthur R Grossman
Oct 28, 2008·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Carla G MonicoPeter S Aronson
Sep 22, 2009·Methods in Molecular Biology·Muriel GaudetMaurizio Sabatti
May 5, 2012·Gene·Ambuj Kumar, Rituraj Purohit
Oct 11, 2012·The Journal of Biological Chemistry·Scott Horowitz, Raymond C Trievel
Oct 12, 2012·PloS One·Yongwook ChoiAgnes P Chan
Mar 20, 2013·Molecular Aspects of Medicine·Seth L Alper, Alok K Sharma
Jul 5, 2013·Cell Biochemistry and Biophysics·Balu Kamaraj, Rituraj Purohit

❮ Previous
Next ❯

Citations

Nov 30, 2016·Urolithiasis·Nilufar MohebbiRobert Unwin
May 5, 2017·Physiological Reviews·Rodrigo S LacruzMichael L Paine
Jun 14, 2020·Nature Reviews. Urology·Sarah A Howles, Rajesh V Thakker
May 3, 2019·American Journal of Physiology. Cell Physiology·Arivarasu N AnbazhaganPradeep K Dudeja
Feb 9, 2021·Frontiers in Medicine·Juan WangBiguang Tuo

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.