2026-04-18T07:26:39Zhttps://recercat.cat/oai/requestoai:recercat.cat:20.500.12327/15892025-10-22T11:26:49Zcom_2072_4428com_2072_4427col_2072_487898
RECERCAT
author
Mármol-Sánchez, Emilio
author
Quintanilla, Raquel
author
Luigi-Sierra, María Gracia
author
Amills, Marcel
other
Producció Animal
group
Genètica i Millora Animal
2025-10-22T11:26:49Z
2025-10-22T11:26:49Z
2021-10-05
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
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.
eng
Attribution 4.0 International
An association analysis between a polymorphism in the SEC24A gene and lipid traits recorded in Duroc pigs
info:eu-repo/semantics/article