{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:37:56Z","timestamp":1761845876004,"version":"build-2065373602"},"reference-count":61,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T00:00:00Z","timestamp":1761782400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/publicdomain\/zero\/1.0\/"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1TR002529"],"award-info":[{"award-number":["UL1TR002529"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008746","name":"National Cancer Center","doi-asserted-by":"publisher","award":["P30CA082709"],"award-info":[{"award-number":["P30CA082709"]}],"id":[{"id":"10.13039\/100008746","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["NA"],"award-info":[{"award-number":["NA"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"name":"VA Merit Review","award":["NA"],"award-info":[{"award-number":["NA"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS One"],"abstract":"<jats:p>\n                    The human\n                    <jats:italic>PKD1<\/jats:italic>\n                    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\u2009kb message and encodes polycystin-1 (PC1). Informatic analysis of the\n                    <jats:italic>PKD1<\/jats:italic>\n                    locus reveals 38 additional transcripts in the database, the most abundant cDNA is TESTI2047494 (GenBank ACC. No. DB056008) that maps to the 3\u2019 region with active and open chromatin. This\n                    <jats:italic>PKD1<\/jats:italic>\n                    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\u221246 conventional splicing of the H\n                    <jats:italic>\n                      <jats:italic>mPKD1<\/jats:italic>\n                    <\/jats:italic>\n                    gene. To assess the broader significance of this transcript, transcriptional characterization uncovered a highly similar murine renal alternative transcript suggesting a conserved functional role. The human alternative cDNA was analyzed for protein expression and only one of three reading frames led to a 47\u2009kDa protein that is given the name Eliosin. Eliosin protein initiates from a non-canonical translation start site Leucine in exon 41 that generates 5 unique amino-terminal amino acids in a different frame from\n                    <jats:italic>PKD1<\/jats:italic>\n                    . In 2D-gel analysis, Eliosin protein detected by anti-C terminal PC1 antibodies has a pI of 9.0 and the relative molecular weight was confirmed. Eliosin co-localizes with mitofusin-1, IP3R and dynamin related protein-1 (DRP1), proteins associated with ER mitochondria membrane contact sites (ERMCS). Eliosin observed in cotransfection studies with DRP1 support sequestration and\/or competition mechanism at the ERMCS from classical interaction. Strikingly, exogenous Eliosin in immortalized ADPKD renal epithelial cells converts fragmented mitochondria populations to a filamentous shape. Our studies highlight the genomic complexity of the locus, a newly identified transcript and ERMCS protein, Eliosin with a role in mitochondria dynamics and potential impact in ADPKD progression.\n                  <\/jats:p>","DOI":"10.1371\/journal.pone.0332969","type":"journal-article","created":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:27:22Z","timestamp":1761845242000},"page":"e0332969","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":0,"title":["Eliosin-an alternative product from the HmPKD1 locus is a component of endoplasmic reticulum mitochondria membrane contact 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