The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

Jim Hughes, Christopher J. Ward, Belén Peral, Richard Aspinwall, Kevin Clark, José L.San Millán, Vicki Gamble, Peter C. Harris

Research output: Contribution to journalArticlepeer-review

704 Scopus citations

Abstract

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 languageEnglish (US)
Pages (from-to)151-160
Number of pages10
JournalNature Genetics
Volume10
Issue number2
DOIs
StatePublished - Jun 1995

ASJC Scopus subject areas

  • Genetics

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