Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes

Genomics. 2001 Jun 15;74(3):333-41. doi: 10.1006/geno.2001.6568.


PKD1 is the first gene identified to be causative for the condition of autosomal dominant polycystic kidney disease. There are several genes homologous to PKD1 that are located proximal to the master gene on the same chromosome. Two of these genes have been recently covered in a large sequencing work on chromosome 16, and their structure has been broadly analyzed. However, the major question whether homologous genes (HG) code for functionally active polypeptides has not been resolved so far. The current study identifies and partially characterizes four more homologues of PKD1, different from the previously published sequence, two of which were found by screening of a BAC library and the other two contained in available databases. Analysis of HG transcripts shows that they are not translated in the model cell line T98G. Taken together, these findings suggest that homologues to PKD1 form a family of pseudogenes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA / chemistry
  • DNA / genetics
  • Humans
  • Molecular Sequence Data
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Proteins / genetics*
  • Pseudogenes / genetics*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Sequence Homology, Nucleic Acid
  • TRPP Cation Channels
  • Transcription, Genetic
  • Tumor Cells, Cultured


  • Proteins
  • RNA, Messenger
  • TRPP Cation Channels
  • polycystic kidney disease 1 protein
  • DNA

Associated data

  • GENBANK/AF320593
  • GENBANK/AF320594