Autosomal dominant polycystic kidney disease: Molecular analysis

Peter C Harris, C. J. Ward, B. Peral, J. Hughes

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

Using a positional cloning approach the major autosomal dominant polycystic kidney disease (ADPKD) gene (PKD1) has been identified on chromosome 16: a disease associated chromosome translocation was instrumental in its identification. Study of the PKD1 gene has been complicated because most of the gene lies in a genomic region reiterated elsewhere on the same chromosome. The duplicate area contains three genes which share substantial homology with PKD1 and generate polyadenylated transcripts. Most PKD1 mutations have so far been detected in the single copy, 3' end of the gene, but a group of patients with deletion of PKD1 and the adjacent TSC2 gene, which have severe infantile polycystic kidney disease, have also been characterised. The full length transcript of PKD1 (~ 14 kb) has now been cloned and is predicted to encode a protein, polycystin, of 4302/3 aa. Polycystin contains multiple extracellular domains including leucine rich repeats, a C-type lectin, immunoglobulin and fibronectin type III-like domains and has a C terminal region which is likely associated with the membrane. These homologies indicate that polycystin is a cell-cell/matrix interaction protein.

Original languageEnglish (US)
Pages (from-to)1745-1749
Number of pages5
JournalHuman Molecular Genetics
Volume4
Issue numberREV. ISS.
StatePublished - 1995
Externally publishedYes

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Autosomal Dominant Polycystic Kidney
TRPP Cation Channels
Genes
Chromosomes
C-Type Lectins
Chromosomes, Human, Pair 16
Polycystic Kidney Diseases
Leucine
Cell Communication
Immunoglobulins
Organism Cloning
Proteins
Mutation
Membranes

ASJC Scopus subject areas

  • Genetics

Cite this

Harris, P. C., Ward, C. J., Peral, B., & Hughes, J. (1995). Autosomal dominant polycystic kidney disease: Molecular analysis. Human Molecular Genetics, 4(REV. ISS.), 1745-1749.

Autosomal dominant polycystic kidney disease : Molecular analysis. / Harris, Peter C; Ward, C. J.; Peral, B.; Hughes, J.

In: Human Molecular Genetics, Vol. 4, No. REV. ISS., 1995, p. 1745-1749.

Research output: Contribution to journalArticle

Harris, PC, Ward, CJ, Peral, B & Hughes, J 1995, 'Autosomal dominant polycystic kidney disease: Molecular analysis', Human Molecular Genetics, vol. 4, no. REV. ISS., pp. 1745-1749.
Harris, Peter C ; Ward, C. J. ; Peral, B. ; Hughes, J. / Autosomal dominant polycystic kidney disease : Molecular analysis. In: Human Molecular Genetics. 1995 ; Vol. 4, No. REV. ISS. pp. 1745-1749.
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