Autosomal dominant polycystic kidney disease: a two-hit model.
The clinical and histopathologic variability of this common genetic disorder-a leading cause of renal failure-cannot be explained by inherited mutation. Instead, the disease evidently progresses by a second hit: somatic mutation superimposed on germline mutation. The source of the mutability appears to be DNA triple-helixing, as mediated by some odd genetic code, the longest polypyrimidine tract ever found in the human genome.
Germino
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Johns Hopkins School of Medicine, Baltimore, USA.
D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D006801:Humans; D009154:Mutation; D010641:Phenotype; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D050396:TRPP Cation Channels
D011506:Proteins; D050396:TRPP Cation Channels