Tissue-specific expression and splicing of the rat polycystic kidney disease 1 gene

H Xu, J Shen, CL Walker, E Kleymenova - DNA Sequence, 2001 - Taylor & Francis
H Xu, J Shen, CL Walker, E Kleymenova
DNA Sequence, 2001Taylor & Francis
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic
potentially lethal human disorder and the polycystic kidney disease 1 (Pkdl) gene is
accounted for 85-90% of these cases. We have obtained rat Pkdl cDNA sequence and
characterized splicing of Pkdl RNA transcripts in normal rat tissues. Our sequence data
revealed a high conservation of the Pkdl gene between rat and other species and mapped
rat Pkdl to chromosome 10 in “tail-to-tail” orientation to the tuberous sclerosis 2 (Tsc2) gene …
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic potentially lethal human disorder and the polycystic kidney disease 1 (Pkdl) gene is accounted for 85-90% of these cases. We have obtained rat Pkdl cDNA sequence and characterized splicing of Pkdl RNA transcripts in normal rat tissues. Our sequence data revealed a high conservation of the Pkdl gene between rat and other species and mapped rat Pkdl to chromosome 10 in “tail-to-tail” orientation to the tuberous sclerosis 2 (Tsc2) gene. Pkdl was found ubiquitously expressed in the normal rat tissues and the brain had a complex pattern of exon 12 splicing. A novel splicing variant lacking entire exon 31, which occurs in rat and mouse but not in humans, was also identified. As the rat appears to be a valuable model for investigating polycystic kidney disease, the characterization of the rat Pkdl gene will help facilitate future studies to elucidate the molecular mechanisms of cystogenesis in this animal model.
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