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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.

Original publication




Journal article


Nat Genet

Publication Date





151 - 160


Amino Acid Sequence, Animals, Base Sequence, Cattle, Chromosome Mapping, Chromosomes, Human, Pair 16, Cloning, Molecular, Computer Simulation, DNA, Complementary, Fibronectins, Humans, Membrane Glycoproteins, Models, Molecular, Molecular Sequence Data, Polycystic Kidney, Autosomal Dominant, Protein Biosynthesis, Protein Conformation, Proteins, Rats, Repetitive Sequences, Nucleic Acid, Sequence Homology, Amino Acid, TRPP Cation Channels