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Lu, Hao,Galeano, Maria C Rondó,n,Ott, Elisabeth,Kaeslin, Geraldine,Kausalya, P Jaya,Kramer, Carina,Ortiz-Brü,chle, Nadina,Hilger, Nadescha,Metzis, Vicki,Hiersche, Milan,Tay, Shang Yew,Tunnin Nature Pub. Co 2017 Nature genetics Vol.49 No.7
<P>Autosomal 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.</P>