Nature Genetics
10, 151 - 160 (1995)
doi:10.1038/ng0695-151
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domainsJim Hughes1, Christopher J. Ward1, Belén Peral1, Richard Aspinwall1, Kevin Clark1, José L. San Millán1, 2, Vicki Gamble1
& Peter C. Harris1
1MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Raddiffe Hospital Headington, Oxford OX3 9DU, UK
2Present address: Unidad de Genética Molecular, Hospital Ramón y Cajal, 28034 Madrid, Spain Correspondence should be addressed to P.C.H. Characterization of the polycystic kidney disease 1 (PKD1) gene has been complicated by genomic rearrangements on chromosome 16. We have used an exon linking strategy, taking RNA from a cell line containing PKD1 but not the duplicate loci, to clone a cDNA contig of the entire transcript. The transcript consists of 14,148 bp (including a correction to the previously described C terminus), distributed among 46 exons spanning 52 kb. The predicted PKD1 protein, polycystin, is a glycoprotein with multiple transmembrane domains and a cytoplasmic C-tail. The N−terminal extracellular region of over 2,500 aa contains leucine−rich repeats, a C−type lectin, 16 immunoglobulin−like repeats and four type III fibronectin−related domains. Our results indicate that polycystin is an integral membrane protein involved in cell−cell/matrix interactions.
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