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Article

Human-Specific Abnormal Alternative Splicing of Wild-Type PKD1 Induces Premature Termination of Polycystin-1.

Journal of the American Society of Nephrology : JASN - 1 Oct 2018

Lea Wendy A, Parnell Stephen C, Wallace Darren P, Calvet James P, Zelenchuk Lesya V, Alvarez Nehemiah S, Ward Christopher J

Abstract excerpt

BACKGROUND: The major form of autosomal dominant polycystic kidney disease is caused by heterozygous mutations in PKD1, the gene that encodes polycystin-1 (PC1). Unlike PKD1 genes in the mouse and most other mammals, human PKD1 is unusual in that it contains two long polypyrimidine tracts in introns 21 and 22 (2.5 kbp and 602 bp, respectively; 97% cytosine and thymine). Although these polypyrimidine tracts have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Peptide Chain Termination, Translational

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Identifiers

PMID: 30185468
DOI: 10.1681/ASN.2018040442
PMCID: PMC6171280

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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