The genetic mechanisms underlying cutaneous melanoma onset and progression need to be further understood to improve patients’ care. Several studies have focused on the genetic determinism of melanoma development in the MeLiM pig, a biomedical model of cutaneous melanoma. The objective of this study was to better describe the influence of a particular genomic region on melanoma progression in the MeliM model. Indeed, a large region of the Sus scrofa chromosome 1 has been identified by linkage and association analyses, but the causal mechanisms have remained elusive. To deepen the analysis of this candidate region, a dedicated SNP panel was used to fine map the locus, downsizing the interval to less than 2 Mb, in a genomic region located within a large gene desert. Transcription from this locus was addressed using a tiling array strategy and further validated by RT-PCR in a large panel of tissues. Overall, the gene desert showed an extensive transcriptional landscape, notably dominated by repeated element transcription in tumor and fetal tissues. The transcription of LINE-1 and PERVs has been confirmed in skin and tumor samples from MeLiM pigs. In conclusion, although this study still does not identify a candidate mutation for melanoma occurrence or progression, it highlights a potential role of repeated element transcriptional activity in the MeLiM model.

皮肤黑色素瘤发作和进展的遗传机制需要进一步了解，以改善患者的护理。几项研究集中于MeLiM猪黑色素瘤发展的遗传决定论，MeLiM猪是皮肤黑色素瘤的生物医学模型。这项研究的目的是更好地描述MeliM模型中特定基因组区域对黑素瘤进展的影响。确实，Sus scrofa的大部分地区1号染色体已通过连锁和关联分析进行了鉴定，但其致病机制仍难以捉摸。为了加深对该候选区域的分析，在大型基因沙漠中的一个基因组区域中，使用了一个专用的SNP面板对位点进行精细定位，将间隔缩小到小于2 Mb。使用切片阵列策略解决了该基因座的转录问题，并通过RT-PCR在一大批组织中进一步进行了验证。总体而言，基因沙漠显示出广泛的转录态势，特别是在肿瘤和胎儿组织中的重复元素转录中占主导地位。在来自MeLiM猪的皮肤和肿瘤样品中已证实LINE-1和PERV的转录。总之，尽管该研究仍未发现黑色素瘤发生或进展的候选突变，