Human SLC26A1 gene variants: a pilot study

Dawson, Paul A., Sim, Pearl, Mudge, David W. and Cowley, David (2013) Human SLC26A1 gene variants: a pilot study. Scientific World Journal, 2013 . doi:10.1155/2013/541710

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Author Dawson, Paul A.
Sim, Pearl
Mudge, David W.
Cowley, David
Title Human SLC26A1 gene variants: a pilot study
Journal name Scientific World Journal   Check publisher's open access policy
ISSN 1537-744X
Publication date 2013-01-01
Year available 2013
Sub-type Article (original research)
DOI 10.1155/2013/541710
Open Access Status DOI
Volume 2013
Total pages 7
Place of publication New York, United States
Publisher Hindawi Publishing Corporation
Collection year 2014
Language eng
Formatted abstract
Kidney stones are a global health problem, incurring massive health costs annually. Why stones recur in many patients remains unknown but likely involves environmental, physiological, and genetic factors. The solute linked carrier (SLC) 26A1 gene has previously been linked to kidney stones in mice. SLC26A1 encodes the sulfate anion transporter 1 (SAT1) protein, and its loss in mice leads to hyperoxaluria and calcium oxalate renal stones. To investigate the possible involvement of SAT1 in human urolithiasis, we screened the SLC26A1 gene in a cohort of 13 individuals with recurrent calcium oxalate urolithiasis, which is the commonest type. DNA sequence analyses showed missense mutations in seven patients: one individual was heterozygous R372H; 4 individuals were heterozygous Q556R; one patient was homozygous Q556R; and one patient with severe nephrocalcinosis (requiring nephrectomy) was homozygous Q556R and heterozygous M132T. The M132 amino acid in human SAT1 is conserved with 15 other species and is located within the third transmembrane domain of the predicted SAT1 protein structure, suggesting that this amino acid may be important for SAT1 function. These initial findings demonstrate genetic variants in SLC26A1 of recurrent stone formers and warrant wider independent studies of SLC26A1 in humans with recurrent calcium oxalate stones.
Keyword Calcium oxalate urolithiasis
Gain-of-function
Transcriptional regulation
Sulfate transporters
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Article ID 541710

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
School of Medicine Publications
 
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Citation counts: TR Web of Science Citation Count  Cited 7 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 6 times in Scopus Article | Citations
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