dc.contributor.author | Mármol-Sánchez, Emilio | |
dc.contributor.author | Quintanilla, Raquel | |
dc.contributor.author | Luigi-Sierra, María Gracia | |
dc.contributor.author | Amills, Marcel | |
dc.contributor.other | Producció Animal | ca |
dc.date.accessioned | 2022-01-28T11:52:51Z | |
dc.date.available | 2022-01-28T11:52:51Z | |
dc.date.issued | 2021-10-05 | |
dc.identifier.citation | 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. | ca |
dc.identifier.issn | 1828-051X | ca |
dc.identifier.uri | http://hdl.handle.net/20.500.12327/1589 | |
dc.description.abstract | 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. | ca |
dc.format.extent | 9 | ca |
dc.language.iso | eng | ca |
dc.publisher | Taylor & Francis Open Access | ca |
dc.relation.ispartof | Italian Journal of Animal Science | ca |
dc.rights | Attribution 4.0 International | ca |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.title | An association analysis between a polymorphism in the SEC24A gene and lipid traits recorded in Duroc pigs | ca |
dc.type | info:eu-repo/semantics/article | ca |
dc.description.version | info:eu-repo/semantics/publishedVersion | ca |
dc.rights.accessLevel | info:eu-repo/semantics/openAccess | |
dc.rights.accessLevel | info:eu-repo/semantics/openAccess | |
dc.embargo.terms | cap | ca |
dc.relation.projectID | MINECO/Programa Estatal de I+D+I orientada a los retos de la sociedad/AGL2013-48742-C2-1-R/ES/FISIOLOGIA GENOMICA DEL DEPOSITO DE GRASA INTRAMUSCULAR EN PORCINO/ | ca |
dc.relation.projectID | MICIU/Programa Estatal de generación del conocimiento y fortalecimiento científico y tecnológico del sistema I+D+I/CEX2019-000902-S/ES/ / | ca |
dc.relation.projectID | MINECO/Programa Estatal de promoción del talento y su empleabilidad en I+D+I/BES-2017-079709/ES/ / | ca |
dc.relation.projectID | MINECO/Programa Estatal de I+D+I orientada a los retos de la sociedad/AGL2013-48742-C2-2-R/ES/FISIOLOGIA GENOMICA DEL DEPOSITO DE GRASA INTRAMUSCULAR EN PORCINO/ | ca |
dc.subject.udc | 575 | ca |
dc.identifier.doi | https://doi.org/10.1080/1828051X.2021.1951129 | ca |
dc.contributor.group | Genètica i Millora Animal | ca |