ArticleEuropean journal of human genetics : EJHG2019
Splice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Increased ACSL6 Expression Predicts a Favorable Prognosis in Triple-negative Breast Cancer.Current medicinal chemistry · 2025Article
- Identification of a novel InDel locus within theArchives animal breeding · 2025Article
- Polyamine Pathway Inhibitor DENSPM Suppresses Lipid Metabolism in Pheochromocytoma Cell Line.International journal of molecular sciences · 2024Article
- The Diagnostic Value of ACSL1, ACSL4, and ACSL5 and the Clinical Potential of an ACSL Inhibitor in Non-Small-Cell Lung Cancer.Cancers · 2024Article
- Role of ACSL5 in fatty acid metabolism.Heliyon · 2023Review
- Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis.Human molecular genetics · 2022Article
- A selected population study reveals the biochemical mechanism of intramuscular fat deposition in chicken meat.Journal of animal science and biotechnology · 2022Article
- Genome-wide analysis of the acyl-coenzyme A synthetase family and their association with the formation of goat milk flavour.Frontiers in genetics · 2022Article
- Hsv-1 Endocytic Entry into a Human Oligodendrocytic Cell Line is Mediated by Clathrin and Dynamin but Not Caveolin.Viruses · 2020Article
- Identification of Latent Oncogenes with a Network Embedding Method and Random Forest.BioMed research international · 2020Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Long-chain Acyl-CoA synthetases (ACSLs) activate fatty acids (FAs) by thioesterification with Coenzyme A (CoA), generating FA-CoAs. These products are essential for lipid metabolism and carcinogenesis. In previous study, we identified an intronic variant rs2256368:A>G, whose G allele promotes exon 20 skipping in up to 43% of ACSL5 transcripts but its functional relevance is unclear. Here, we compared the expression of splice (Spl) and nonsplice (NSpl) ACSL5 variants and the effect on cell viability under culture conditions that force cells to metabolize fatty acids. We found that lymphoblastoid cell lines from 1000 Genomes Project, bearing Spl genotypes, showed a reduced expression of total ACSL5 protein due to an inefficient translation of the Spl RNA. These cells impaired growth in cultures with phorbol myristate acetate-ionomycin (PMA-Io) or medium deprived of glucose, while production of reactive oxygen species increased in PMA-Io. Specific ACSL5-isoform transfection in HEK239T (kidney), U87 (astroglioma), and HOG (oligodendrocyte) cells showed the Spl protein to be the causal factor of cell-growth inhibition, despite its reduced protein expression. Our findings indicate that the variant rs2256368:A>G can predict a growth inhibitory activity, caused by the Spl isoform of ACSL5 protein, opposed to the activity of the NSpl. Deep understanding of its functioning might have application in metabolic diseases and cancer.
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