Genome-wide association studies for non-syndromic orofacial clefting (OFC) have identified single nucleotide polymorphisms (SNPs) at loci where the presumed risk-relevant gene is expressed in oral periderm. The functional subsets of such SNPs are difficult to predict because the sequence underpinnings of periderm enhancers are unknown. We applied ATAC-seq to models of human palate periderm, including zebrafish periderm, mouse embryonic palate epithelia, and a human oral epithelium cell line, and to complementary mesenchymal cell types. We identified sets of enhancers specific to the epithelial cells and trained gapped-kmer support-vector-machine classifiers on these sets. We used the classifiers to predict the effects of 14 OFC-associated SNPs at 12q13 near KRT18. All the classifiers picked the same SNP as having the strongest effect, but the significance was highest with the classifier trained on zebrafish periderm. Reporter and deletion analyses support this SNP as lying within a periderm enhancer regulating KRT18/KRT8 expression.

译文

:针对非综合征性口面部裂口(OFC)的全基因组关联研究已经确定了基因位点的单核苷酸多态性(SNP),该基因位点的风险相关基因在口腔周皮中表达。这种SNPs的功能子集很难预测,因为皮损增强子的序列基础是未知的。我们将ATAC-seq应用于人pa上皮模型,包括斑马鱼皮per,小鼠胚胎上皮上皮细胞和人口腔上皮细胞系,以及互补的间充质细胞类型。我们确定了特定于上皮细胞的增强子集,并在这些集合上训练了空缺-kmer支持向量机分类器。我们使用分类器来预测KRT18附近12q13处14个与OFC相关的SNP的影响。所有分类器都选择了效果最强的相同SNP,但在对斑马鱼皮毛进行训练的分类器中,意义最高。记者和删除分析支持此SNP,因为它位于调节KRT18 / KRT8表达的皮层增强剂中。

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