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Mutations in SLC26A1 Cause Nephrolithiasis.

DC FieldValueLanguage
dc.contributor.author이민구-
dc.contributor.author전익현-
dc.contributor.author지헌영-
dc.date.accessioned2017-02-27T07:39:36Z-
dc.date.available2017-02-27T07:39:36Z-
dc.date.issued2016-
dc.identifier.issn0002-9297-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/146951-
dc.description.abstractNephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system, affects about 5%-10% of individuals worldwide at some point in their lifetime and results in significant medical costs and morbidity. To date, mutations in more than 30 genes have been described as being associated with nephrolithiasis, and these mutations explain about 15% of kidney stone cases, suggesting that additional nephrolithiasis-associated genes remain to be discovered. To identify additional genes whose mutations are linked to nephrolithiasis, we performed targeted next-generation sequencing of 18 hypothesized candidate genes in 348 unrelated individuals with kidney stones. We detected biallelic mutations in SLC26A1 (solute carrier family 26 member 1) in two unrelated individuals with calcium oxalate kidney stones. We show by immunofluorescence, immunoblotting, and glycosylation analysis that the variant protein mimicking p.Thr185Met has defects in protein folding or trafficking. In addition, by measuring anion exchange activity of SLC26A1, we demonstrate that all the identified mutations in SLC26A1 result in decreased transporter activity. Our data identify SLC26A1 mutations as causing a recessive Mendelian form of nephrolithiasis.-
dc.description.statementOfResponsibilityrestriction-
dc.format.extent1228~1234-
dc.publisherUniversity of Chicago Press-
dc.relation.isPartOfAMERICAN JOURNAL OF HUMAN GENETICS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAmino Acid Sequence-
dc.subject.MESHAnion Transport Proteins/chemistry-
dc.subject.MESHAnion Transport Proteins/genetics*-
dc.subject.MESHAnion Transport Proteins/metabolism*-
dc.subject.MESHBicarbonates/metabolism-
dc.subject.MESHFluorescent Antibody Technique-
dc.subject.MESHGlycosylation-
dc.subject.MESHHigh-Throughput Nucleotide Sequencing-
dc.subject.MESHHumans-
dc.subject.MESHImmunoblotting-
dc.subject.MESHMutation/genetics*-
dc.subject.MESHNephrolithiasis/etiology*-
dc.subject.MESHNephrolithiasis/pathology-
dc.subject.MESHProtein Conformation-
dc.subject.MESHProtein Folding-
dc.subject.MESHProtein Transport-
dc.subject.MESHReal-Time Polymerase Chain Reaction-
dc.subject.MESHSequence Homology, Amino Acid-
dc.subject.MESHSulfates/metabolism-
dc.titleMutations in SLC26A1 Cause Nephrolithiasis.-
dc.typeArticle-
dc.publisher.locationUnited States-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Pharmacology-
dc.contributor.googleauthorHeon Yung Gee-
dc.contributor.googleauthorIkhyun Jun-
dc.contributor.googleauthorDaniela A. Braun-
dc.contributor.googleauthorJennifer A. Lawson-
dc.contributor.googleauthorJan Halbritter-
dc.contributor.googleauthorShirlee Shril-
dc.contributor.googleauthorCaleb P. Nelson-
dc.contributor.googleauthorWeizhen Tan-
dc.contributor.googleauthorDeborah Stein-
dc.contributor.googleauthorAri J. Wassner-
dc.contributor.googleauthorMichael A. Ferguson-
dc.contributor.googleauthorZoran Gucev-
dc.contributor.googleauthorJohn A. Sayer-
dc.contributor.googleauthorDanko Milosevic-
dc.contributor.googleauthorMichelle Baum-
dc.contributor.googleauthorVelibor Tasic-
dc.contributor.googleauthorMin Goo Lee-
dc.contributor.googleauthorFriedhelm Hildebrandt-
dc.identifier.doi10.1016/j.ajhg.2016.03.026-
dc.contributor.localIdA03541-
dc.contributor.localIdA02781-
dc.contributor.localIdA03971-
dc.relation.journalcodeJ00086-
dc.identifier.eissn1537-6605-
dc.identifier.pmid27210743-
dc.identifier.urlhttp://www.sciencedirect.com/science/article/pii/S0002929716300611-
dc.contributor.alternativeNameLee, Min Goo-
dc.contributor.alternativeNameJun, Ik Hyun-
dc.contributor.alternativeNameGee, Heon Yung-
dc.contributor.affiliatedAuthorJun, Ik Hyun-
dc.contributor.affiliatedAuthorLee, Min Goo-
dc.contributor.affiliatedAuthorGee, Heon Yung-
dc.citation.volume98-
dc.citation.number6-
dc.citation.startPage1228-
dc.citation.endPage1234-
dc.identifier.bibliographicCitationAMERICAN JOURNAL OF HUMAN GENETICS, Vol.98(6) : 1228-1234, 2016-
dc.date.modified2017-02-24-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers

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