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Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

DC Field Value Language
dc.contributor.author지헌영-
dc.date.accessioned2018-07-20T08:04:22Z-
dc.date.available2018-07-20T08:04:22Z-
dc.date.issued2017-
dc.identifier.issn1061-4036-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/160812-
dc.description.abstractAutosomal recessive polycystic kidney disease (ARPKD), usually considered to be a genetically homogeneous disease caused by mutations in PKHD1, has been associated with ciliary dysfunction. Here, we describe mutations in DZIP1L, which encodes DAZ interacting protein 1-like, in patients with ARPKD. We further validated these findings through loss-of-function studies in mice and zebrafish. DZIP1L localizes to centrioles and to the distal ends of basal bodies, and interacts with septin2, a protein implicated in maintenance of the periciliary diffusion barrier at the ciliary transition zone. In agreement with a defect in the diffusion barrier, we found that the ciliary-membrane translocation of the PKD proteins polycystin-1 and polycystin-2 is compromised in DZIP1L-mutant cells. Together, these data provide what is, to our knowledge, the first conclusive evidence that ARPKD is not a homogeneous disorder and further establish DZIP1L as a second gene involved in ARPKD pathogenesis.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherNature Pub. Co.-
dc.relation.isPartOfNATURE GENETICS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAbnormalities, Multiple/embryology-
dc.subject.MESHAbnormalities, Multiple/genetics-
dc.subject.MESHAdaptor Proteins, Signal Transducing/deficiency-
dc.subject.MESHAdaptor Proteins, Signal Transducing/genetics-
dc.subject.MESHAdaptor Proteins, Signal Transducing/physiology-
dc.subject.MESHAnimals-
dc.subject.MESHCentrioles/metabolism-
dc.subject.MESHChromosomes, Human, Pair 3/genetics-
dc.subject.MESHCilia/metabolism-
dc.subject.MESHConsanguinity-
dc.subject.MESHDisease Models, Animal-
dc.subject.MESHEmbryo, Nonmammalian/abnormalities-
dc.subject.MESHFemale-
dc.subject.MESHGene Knockdown Techniques-
dc.subject.MESHGenetic Linkage-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMembrane Proteins/metabolism-
dc.subject.MESHMice-
dc.subject.MESHMice, Inbred C57BL-
dc.subject.MESHPedigree-
dc.subject.MESHPolycystic Kidney, Autosomal Recessive/embryology-
dc.subject.MESHPolycystic Kidney, Autosomal Recessive/genetics-
dc.subject.MESHProtein Transport-
dc.subject.MESHSeptins/metabolism-
dc.subject.MESHTRPP Cation Channels/metabolism-
dc.subject.MESHZebrafish/embryology-
dc.subject.MESHZebrafish/genetics-
dc.subject.MESHZebrafish Proteins/deficiency-
dc.subject.MESHZebrafish Proteins/genetics-
dc.subject.MESHZebrafish Proteins/physiology-
dc.titleMutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Pharmacology-
dc.contributor.googleauthorHao Lu-
dc.contributor.googleauthorMaria C. Rondón Galeano-
dc.contributor.googleauthorElisabeth Ott-
dc.contributor.googleauthorGeraldine Kaeslin-
dc.contributor.googleauthorP. Jaya Kausalya-
dc.contributor.googleauthorCarina Kramer-
dc.contributor.googleauthorNadina Ortiz-Brüchle-
dc.contributor.googleauthorNadescha Hilger-
dc.contributor.googleauthorVicki Metzis-
dc.contributor.googleauthorMilan Hiersche-
dc.contributor.googleauthorShang Yew Tay-
dc.contributor.googleauthorRobert Tunningley-
dc.contributor.googleauthorShubha Vij-
dc.contributor.googleauthorAndrew D. Courtney-
dc.contributor.googleauthorBelinda Whittle-
dc.contributor.googleauthorElke Wühl-
dc.contributor.googleauthorUdo Vester-
dc.contributor.googleauthorBjörn Hartleben-
dc.contributor.googleauthorSteffen Neuber-
dc.contributor.googleauthorValeska Frank-
dc.contributor.googleauthorMelissa H. Little-
dc.contributor.googleauthorDaniel Epting-
dc.contributor.googleauthorPeter Papathanasiou-
dc.contributor.googleauthorAndrew C. Perkins-
dc.contributor.googleauthorGraham D. Wright-
dc.contributor.googleauthorWalter Hunziker-
dc.contributor.googleauthorHeon Yung Gee-
dc.contributor.googleauthorEdgar A. Otto-
dc.contributor.googleauthorKlaus Zerres-
dc.contributor.googleauthorFriedhelm Hildebrandt-
dc.contributor.googleauthorSudipto Roy-
dc.contributor.googleauthorCarol Wicking-
dc.contributor.googleauthorCarsten Bergmann-
dc.identifier.doi10.1038/ng.3871-
dc.contributor.localIdA03971-
dc.relation.journalcodeJ02294-
dc.identifier.eissn1546-1718-
dc.identifier.pmid28530676-
dc.contributor.alternativeNameGee, Heon Yung-
dc.contributor.affiliatedAuthorGee, Heon Yung-
dc.citation.volume49-
dc.citation.number7-
dc.citation.startPage1025-
dc.citation.endPage1034-
dc.identifier.bibliographicCitationNATURE GENETICS, Vol.49(7) : 1025-1034, 2017-
dc.identifier.rimsid60696-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers

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