Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia

• Published in: Human molecular genetics Vol. 12; no. 20; pp. 2703 - 2710
• Main Authors: Ward, Christopher J., Yuan, David, Masyuk, Tatyana V., Wang, Xiaofang, Punyashthiti, Rachaneekorn, Whelan, Shelly, Bacallao, Robert, Torra, Roser, LaRusso, Nicholas F., Torres, Vicente E., Harris, Peter C.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 15.10.2003; Oxford Publishing Limited (England)
• Subjects: Animals; Antibodies, Monoclonal - chemistry; Biological and medical sciences; Blotting, Western; Cell Line; Cilia - metabolism; Classical genetics, quantitative genetics, hybrids; Cytoplasm - metabolism; Dogs; Exons; Fibrosis - pathology; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Human; Humans; Immunohistochemistry; Kidney - embryology; Kidney - metabolism; Liver - metabolism; Microscopy, Fluorescence; Molecular and cellular biology; Polycystic Kidney, Autosomal Recessive - genetics; Receptors, Cell Surface - biosynthesis; Receptors, Cell Surface - genetics; Genetics; Localization; Protein; Cilia

Autosomal recessive polycystic kidney disease (ARPKD) is an infantile form of PKD characterized by fusiform dilation of collecting ducts and congenital hepatic fibrosis. The ARPKD gene, PKHD1, is large (∼470 kb; 67 exons) with a 12 222 bp longest open reading frame, although multiple different splic...