Eliosin-an alternative product from the HmPKD1 locus is a component of endoplasmic reticulum mitochondria membrane contact sites.

ABSTRACT: The human PKD1 gene locus region is the site that when mutated, causes 87% of the cases of human autosomal dominant polycystic kidney disease (ADPKD). This gene generates a full-length 14 kb message and encodes polycystin-1 (PC1). Informatic analysis of the PKD1 locus reveals 38 additional transcripts in the database, the most abundant cDNA is TESTI2047494 (GenBank ACC. No. DB056008) that maps to the 3' region with active and open chromatin. This PKD1 locus region in human adult kidney cDNA probed by several sets of primers and sequencing produces an alternative transcript with a transcriptional start site in intron 40 that undergoes exon 42 skipping but aligns with exon 43-46 conventional splicing of the HmPKD1 gene. To assess the broader significance of this transcript, transcriptional c

SUBMITTER: Kurbegovic A 

PROVIDER: S-EPMC12574933 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature