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- Title
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
- Authors
Ward, Christopher J; Hogan, Marie C; Rossetti, Sandro; Walker, Denise; Sneddon, Tam; Wang, Xiaofang; Kubly, Vicky; Cunningham, Julie M; Bacallao, Robert; Ishibashi, Masahiko; Milliner, Dawn S; Torres, Vicente E; Harris, Peter C
- Abstract
Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver-related morbidity and mortality. Genetic analysis of a rat with recessive polycystic kidney disease revealed an orthologous relationship between the rat locus and the ARPKD region in humans; a candidate gene was identified. A mutation was characterized in the rat and screening the 66 coding exons of the human ortholog (PKHD1) in 14 probands with ARPKD revealed 6 truncating and 12 missense mutations; 8 of the affected individuals were compound heterozygotes. The PKHD1 transcript, approximately 16 kb long, is expressed in adult and fetal kidney, liver and pancreas and is predicted to encode a large novel protein, fibrocystin, with multiple copies of a domain shared with plexins and transcription factors. Fibrocystin may be a receptor protein that acts in collecting-duct and biliary differentiation.
- Publication
Nature genetics, 2002, Vol 30, Issue 3, p259
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng833