PKD2

from Wikipedia, the free encyclopedia
Schematic representation of polycystin-1 and polycystin-2 on a cell.

PKD2 ( Engl. Abbreviation for. Disease polycystic kidney 2 (autosomal dominant) = "polycystic kidney disease 2 (autosomal dominant)") is a gene that both in humans and other mammals - species in the genome is included.

function

The PKD2 gene encodes the glycoprotein polycystin-2 . Mutations in PKD2 can autosomal - dominant inherited and then lead to autosomal dominant polycystic kidney disease (ADPKD). While mutations in PKD1 are responsible for around 85% of the cyst kidneys, in PKD2 it is around 15%. Significant mutations in PKD2 lead to a milder form of the cyst kidney. In the affected patients, terminal kidney failure sets in at around 70 years of age, while in the case of mutations in PKD1 it occurs 10 to 20 years earlier.

genetics

The PKD2 gene is located on chromosome 4 gene locus q21-q23 in humans.

The PKD2 gene spans over 68  kb and contains 15 exons . The corresponding mRNA is about 5.4 kb and the polycystine-2,968 amino acids encoded from it . In contrast to PKD1, it does not contain a polypyrimidine sequence. Exon 1 has a relatively high chance of mutation because it is rich in guanine and cytosine . PKD2 has no gene homologs in humans. It is available as a single copy gene .

Mutations

By 2005, around 45 different mutations were known to affect PKD2. These are essentially simple base exchanges or insertions or deletions of a few base pairs or frameshifts .

Individual evidence

  1. ↑ C. Stayner and J. Zhou: Polycystin channels and kidney disease. In: Trends in Pharmacological Sciences 22, 2001, pp. 543-546. PMID 11698076 .
  2. ^ S. Rossetti et al.: Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. In: Am. J. Hum. Genet. 68, 2001, pp. 46-63. PMID 11115377 .
  3. ↑ CC Deltas: Mutations of the human polycystic kidney disease 2 (PKD2) gene. In: Hum. Mutat. 18, 2001, pp. 13-24. PMID 11438989 .
  4. ↑ National Center for Biotechnology Information: PKD2 polycystic kidney disease 2 (autosomal dominant) (Homo sapiens) accessed October 3, 2008.
  5. ↑ T. Mochizuki et al .: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. In: Science 272, 1996, pp. 1339-1342. PMID 8650545 .
  6. ↑ T. Hayashi et al: Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). In: Genomics 44, 1997, pp. 131-136. PMID 9286709 .
  7. ↑ JP Calvet: Molecular genetics of polycystic kidney disease. In: J Nephrol 11, 1998, pp. 24-34. PMID 9561482 .
  8. ↑ T. Mochizuki et al: PKD 2, a gene for polycystic kidney disease that encodes an integral membrane protein. In: Science 272, 1996, pp. 1339-1342. PMID 8650545 .
  9. ↑ M. Koptides and CC Deltas: Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis. In: Hum Genet 107, 2000, pp. 115-126. PMID 11030408 .
  10. ↑ a b S. Helmig: Population genetic investigation on the PKD 1 gene of the cat with regard to the polycystic syndrome. Dissertation, Justus Liebig University Giessen, 2005.

Web links