RGD Reference Report - Tissue-specific expression and splicing of the rat polycystic kidney disease 1 gene. - Rat Genome Database

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

Authors: Xu, H  Shen, J  Walker, CL  Kleymenova, E 
Citation: Xu H, etal., DNA Seq 2001 Dec;12(5-6):361-6.
RGD ID: 633540
Pubmed: PMID:11913782   (View Abstract at PubMed)

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic potentially lethal human disorder and the polycystic kidney disease 1 (Pkd1) 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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
polycystic kidney disease  IAGP 633540 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pkd1  (polycystin 1, transient receptor potential channel interacting)


Additional Information