Abstract One of the more interesting regions in the pig genome is on chromosome 15 (115,800,000-122,100,000, SSC15, Sus scrofa 11.1) that has high quantitative trait locus (QTL) density associated with fattening, slaughter and meat quality characteristics. The SSC15 region encodes over 80 genes and a few miRNA sequences where potential genetic markers can be found. The goal of the study was to evaluate the effects of SSC15 mutations associated with villin 1 (VIL1), tensin 1 (TNS1), obscurin-like 1 (OBSL1) genes and with one long non-coding RNA (lncRNA) on productive pig traits and to enrich the genetic marker pool in further selection purpose. The potential genetic markers were identified using the targeted enrichment DNA sequencing (TEDNA-seq) of chromosome 15 region. The selected mutations were genotyped by using HRM, PCR and PCRRFLP methods. The association study was performed using the general linear model (GLM) in the sas program that included over 600 pigs of 5 Polish populations. The rs332253419 VIL1 mutation shows a significant effect on intramuscular fat (IMF) content in Duroc population where AA pigs had a 16% higher level than heterozygotes. The IMF content is also affected by the OBSL1 mutation, and the differences between groups are even up to 30%, but it is strongly dependent on breed factor. The OBSL1 mutation also significantly influences the meat yellowness, backfat thickness and pH level. The performed study delivers valuable information that could be highly useful during the development of the high-throughput genotyping method for further selection purposes in pigs. The OBSL1 and VIL1 mutations seem to be the most promising DNA marker showing a high effect on IMF level.

中文翻译：

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ssc15 qtl富集区突变对猪肌肉内脂肪和生产性状的影响

摘要 猪基因组中更有趣的区域之一是 15 号染色体（115,800,000-122,100,000，SSC15，Sus scrofa 11.1），它具有与育肥、屠宰和肉质特征相关的高数量性状位点 (QTL) 密度。SSC15 区域编码超过 80 个基因和一些可以找到潜在遗传标记的 miRNA 序列。该研究的目的是评估与绒毛蛋白 1 (VIL1)、张力蛋白 1 (TNS1)、遮蔽蛋白样 1 (OBSL1) 基因和一种长链非编码 RNA (lncRNA) 相关的 SSC15 突变对生产猪性状的影响并丰富遗传标记库以进一步选择。使用15号染色体区域的靶向富集DNA测序（TEDNA-seq）鉴定了潜在的遗传标记。通过使用 HRM、PCR 和 PCRRFLP 方法对选定的突变进行基因分型。关联研究是使用 sas 程序中的一般线性模型 (GLM) 进行的，该模型包括 5 个波兰种群的 600 多头猪。rs332253419 VIL1 突变对杜洛克猪群的肌内脂肪 (IMF) 含量有显着影响，其中 AA 猪的水平比杂合子高 16%。IMF含量也受OBSL1突变的影响，组间差异甚至高达30%，但强烈依赖于品种因素。OBSL1 突变也显着影响肉黄色、背膘厚度和 pH 值水平。所进行的研究提供了有价值的信息，这些信息在开发高通量基因分型方法期间可能非常有用，以用于猪的进一步选择。