Abstract：
:Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without polydactyly or occipital encephalocoele. Homozygous missense p.(Ile681Asn; Ile687Ser) mutations identified in ovine TMEM67 were pathogenic in zebrafish phenotype rescue assays. Meckelin protein was expressed in affected and unaffected kidney epithelial cells by immunoblotting, and in primary cilia of lamb kidney cyst epithelial cells by immunofluorescence. In contrast to primary cilia of relatively consistent length and morphology in unaffected kidney cells, those of affected cyst-lining cells displayed a range of short and extremely long cilia, as well as abnormal morphologies, such as bulbous regions along the axoneme. Putative cilia fragments were also consistently located within the cyst luminal contents. The abnormal ciliary phenotype was further confirmed in cultured interstitial fibroblasts from affected kidneys. These primary cilia dysmorphologies and length control defects were significantly greater in affected cells compared to unaffected controls. In conclusion, we describe abnormalities involving primary cilia length and morphology in the first reported example of a large animal model of MKS, in which we have identified TMEM67 mutations.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Stayner C,Poole CA,McGlashan SR,Pilanthananond M,Brauning R,Markie D,Lett B,Slobbe L,Chae A,Johnstone AC,Jensen CG,McEwan JC,Dittmer K,Parker K,Wiles A,Blackburne W,Leichter A,Leask M,Pinnapureddy A,Jennings M,Hordoi
10.1038/s41598-017-01519-4subject
Has Abstractpub_date
2017-05-09 00:00:00pages
1601issue
1issn
2045-2322pii
10.1038/s41598-017-01519-4journal_volume
7pub_type
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