Abstract

One of the major limitation for the application of QTL results in pig breeding and QTN identification has been the limited number of QTL effects validated in different animal material. The aim of the current work was to validate QTL regions through joint and specific genome wide association and haplotype analyses for growth, fatness and premier cut weights in three different genetic backgrounds, backcrosses based on Iberian pigs, which has a major role in the analysis due to its high productive relevance. The results revealed nine common QTL regions, three segregating in all three backcrosses on SSC1, 0–3 Mb, for body weight, on SSC2, 3–9 Mb, for loin bone-in weight, and on SSC7, 3 Mb, for shoulder weight, and six segregating in two of the three backcrosses, on SSC2, SSC4, SSC6 and SSC10 for backfat thickness, shoulder and ham weights. Besides, 18 QTL regions were specifically identified in one of the three backcrosses, five identified only in BC_LD, seven in BC_DU and six in BC_PI. Beyond identifying and validating QTL, candidate genes and gene variants within the most interesting regions have been explored using functional annotation, gene expression data and SNP identification from RNA-Seq data. The results allowed us to propose a promising list of candidate mutations, those identified in PDE10A, DHCR7, MFN2 and CCNY genes located within the common QTL regions and those identified near ssc-mir-103-1 considered PANK3 regulators to be further analysed.

Highlights

  • QTL identification is one of the most relevant approaches used in livestock genomic studies in order to understand the genetic architecture that regulates complex productive traits

  • For the genome-wide analysis (GWAS) analyses only SNPs overlapping between genotyping platforms (60K and 650K) for each backcross were retained

  • A 50% of them showed intermediate frequency (MAF ! 0.25) in each backcross, and 61% in the merged dataset (S1 Fig). These data revealed a similar allele frequencies distribution across all the animal material, none restraining effects related to SNP informativity would be expected in the QTL region identification, it could be found for specific genomic regions

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Summary

Objectives

The aim of the current work was to validate QTL regions through joint and specific genome wide association and haplotype analyses for growth, fatness and premier cut weights in three different genetic backgrounds, backcrosses based on Iberian pigs, which has a major role in the analysis due to its high productive relevance. The aim of the current work was to validate QTL regions through GWAS analyses for growth, fatness and premier cut yields in three different genetic backgrounds F1 (Iberian x Landrace) x Landrace (BC_LD), F1 (Iberian x Duroc) x Duroc (BC_DU) and F1 (Iberian x Pietrain) x Pietrain (BC_PI) backcrosses. The main objective of the current study was to validate QTL among different genetic backgrounds

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