Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations
T Watnick, N He, K Wang, Y Liang, P Parfrey… - Nature …, 2000 - nature.com
T Watnick, N He, K Wang, Y Liang, P Parfrey, D Hefferton, S George-Hyslop, G Germino…
Nature genetics, 2000•nature.comAutosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1
and PKD2. The products of these genes associate to form heteromeric complexes. Several
models have been proposed to explain the mechanism of cyst formation. Here we find
somatic mutations of PKD2 in 71% of ADPKD2 cysts analysed. Clonal somatic mutations of
PKD1 were identified in a subset of cysts that lacked PKD2 mutations.
and PKD2. The products of these genes associate to form heteromeric complexes. Several
models have been proposed to explain the mechanism of cyst formation. Here we find
somatic mutations of PKD2 in 71% of ADPKD2 cysts analysed. Clonal somatic mutations of
PKD1 were identified in a subset of cysts that lacked PKD2 mutations.
Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2. The products of these genes associate to form heteromeric complexes. Several models have been proposed to explain the mechanism of cyst formation. Here we find somatic mutations of PKD2 in 71% of ADPKD2 cysts analysed. Clonal somatic mutations of PKD1 were identified in a subset of cysts that lacked PKD2 mutations.
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