2026-04-14T08:30:17Zhttps://recercat.cat/oai/request

oai:recercat.cat:20.500.12327/15892025-10-22T11:26:49Zcom_2072_4428com_2072_4427col_2072_487898

00925njm 22002777a 4500 dc Mármol-Sánchez, Emilio author Quintanilla, Raquel author Luigi-Sierra, María Gracia author Amills, Marcel author 2021-10-05 By regulating the expression of low-density lipoprotein receptors (LDLR), the SEC24A protein modulates the clearance of plasma cholesterol in mice. The whole-genome sequencing of five Duroc boars that sired a Duroc purebred experimental population (LIPGEN population, 350 individuals) revealed the segregation of one putative nonsense mutation located at the SEC24A (rs336401826, c.44G>A) gene. Genotyping of this polymorphic site in the LIPGEN population highlighted the existence of a significant departure from the Hardy Weinberg equilibrium (χ2 = 5.05, p-value = 0.024527). Despite the fact that SEC24A inactivation should affect serum lipid concentrations, we did not observe an association between SEC24A genotype and such traits. A thorough revision of the annotation of the SEC24A rs336401826 SNP revealed that this polymorphism is probably located in the 5’UTR of the SEC24A gene, rather than at the beginning of the first exon, hence not introducing the predicted premature stop codon that could truncate the SEC24A protein. Given that the annotation of loss-of-function mutations in pigs is far from perfect, careful manual curation of such mutations is recommended before undertaking the analysis of their effects at the experimental level. Mármol-Sánchez, Emilio, Raquel Quintanilla, María Gracia Luigi-Sierra, and Marcel Amills. 2021. “An association analysis between a polymorphism in the SEC24A gene and lipid traits recorded in Duroc pigs”. Italian Journal Of Animal Science 20 (1): 1444-1451. Taylor & Francis. doi:10.1080/1828051X.2021.1951129. 1828-051X http://hdl.handle.net/20.500.12327/1589 https://doi.org/10.1080/1828051X.2021.1951129 An association analysis between a polymorphism in the SEC24A gene and lipid traits recorded in Duroc pigs