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 journalArticle

685 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
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Hughes, J., Ward, C. J., Peral, B., Aspinwall, R., Clark, K., San Millán, J. L., Gamble, V., & Harris, P. C. (1995). The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genetics, 10(2), 151-160. https://doi.org/10.1038/ng0695-151