Departamento de Genética Animal, Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA), Madrid, Spain.
Centro de I+D en Cerdo Ibérico, Zafra, Badajoz, Spain.
PLoS One. 2018 Mar 9;13(3):e0190184. doi: 10.1371/journal.pone.0190184. eCollection 2018.
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.
一个主要限制 QTL 结果在猪育种和 QTN 鉴定中的应用是不同动物材料中验证的 QTL 效应数量有限。本研究的目的是通过联合和特定的全基因组关联和单倍型分析,验证三个不同遗传背景下(基于伊比利亚猪的回交)生长、脂肪和优质切块重量的 QTL 区域,由于其高生产相关性,该背景在分析中起着重要作用。结果揭示了九个常见的 QTL 区域,其中三个在三个回交群体中都在 SSC1 上分离,0-3 Mb 与体重相关,在 SSC2 上分离,3-9 Mb 与腰骨内重量相关,在 SSC7 上分离,3 Mb 与肩部重量相关,六个在三个回交群体中的两个中分离,在 SSC2、SSC4、SSC6 和 SSC10 上与背膘厚度、肩部和火腿重量相关。此外,在三个回交群体中的一个中还特异性地鉴定了 18 个 QTL 区域,其中 5 个仅在 BC_LD 中鉴定,7 个在 BC_DU 中鉴定,6 个在 BC_PI 中鉴定。除了鉴定和验证 QTL 之外,还使用功能注释、基因表达数据和 RNA-Seq 数据中的 SNP 鉴定,在最有趣的区域内探索了候选基因和基因变异体。结果允许我们提出一个有希望的候选突变列表,这些突变在 PDE10A、DHCR7、MFN2 和 CCNY 基因中被鉴定出来,这些基因位于共同 QTL 区域内,以及在 ssc-mir-103-1 附近被鉴定出来的突变,这些突变被认为是 PANK3 调节剂,需要进一步分析。