Using RNA-Seq SNP data to reveal potential causal mutations related to pig production traits and RNA editing

A. M. Martínez-Montes, A. Fernández, D. Pérez-Montarelo, E. Alves, R. M. Benítez, Y. Nuñez, C. Óvilo, N. Ibañez-Escriche, J. M. Folch, A. I. Fernández

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    18 Citations (Scopus)


    © 2016 Stichting International Foundation for Animal Genetics RNA-Seq technology is widely used in quantitative gene expression studies and identification of non-annotated transcripts. However this technology also can be used for polymorphism detection and RNA editing in transcribed regions in an efficient and cost-effective way. This study used SNP data from an RNA-Seq assay to identify genes and mutations underlying production trait variations in an experimental pig population. The hypothalamic and hepatic transcriptomes of nine extreme animals for growth and fatness from an (Iberian × Landrace) × Landrace backcross were analyzed by RNA-Seq methodology, and SNP calling was conducted. More than 125 000 single nucleotide variants (SNVs) were identified in each tissue, and 78% were considered to be potential SNPs, those SNVs segregating in the context of this study. Potential informative SNPs were detected by considering those showing a homozygous or heterozygous genotype in one extreme group and the alternative genotype in the other group. In this way, 4396 and 1862 informative SNPs were detected in hypothalamus and liver respectively. Out of the 32 SNPs selected for validation, 25 (80%) were confirmed as actual SNPs. Association analyses for growth, fatness and premium cut yields with 19 selected SNPs were carried out, and four potential causal genes (RETSAT, COPA, RNMT and PALMD) were identified. Interestingly, new RNA editing modifications were detected and validated for the NR3C1:g.102797 (ss1985401074) and ACSM2B:g.13374 (ss1985401075) positions and for the COG3:g3.4525 (ss1985401087) modification previously identified across vertebrates, which could lead to phenotypic variation and should be further investigated.
    Original languageEnglish
    Pages (from-to)151-165
    JournalAnimal Genetics
    Issue number2
    Publication statusPublished - 1 Apr 2017


    • association
    • fatness
    • Iberian pig
    • premium cut yield
    • transcriptom


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