Glycolytic pathway enrichment in T cell subclusters of affected and unaffected dominant dystrophic epidermolysis bullosa and healthy skin

Supplemental Figure 1. Glycolysis rate-limiting genes are upregulated in affected dominant dystrophic epidermolysis bullosa-associated GATA3+ Th2 cells. Gene expression of HK1 (hexokinase-1), PKM (pyruvate kinase), and PFKL (phosphofructo-1-kinase isozyme B) were fitted on a kernel density estimation algorithm to estimate probability density using the Nebulosa R package. The black horizontal line in the middle of each box plot indicates the median; the top and bottom borders of the box mark the 75th and 25th percentiles, respectively, and the vertical lines mark the minimum and maximum of the data. Supplemental Figure 2. GATA3+ Th2 cells in affected dominant dystrophic epidermolysis bullosa (DDEB) skin show positive enrichment for glycolysis pathway. Single sample gene set enrichment analysis of T cell subclusters in affected and unaffected DDEB and healthy skin. Normalized enrichment score for canonical glycolysis pathway across clusters is highlighted in the left plot. The black horizontal line in the middle of each box plot indicates the median; the top and bottom borders of the box mark the 75th and 25th percentiles, respectively, and the vertical lines mark the minimum and maximum of the data. In the right plot, a ridge plot is used to visualize the normalized enrichment score across clusters and between groups to show modal scores. Cluster 3 GATA3+ Th2 cells in DDEB affected group shows positive enrichment for canonical glycolysis as shown by positive modal peaks as compared to healthy cells in the same cluster which shows negative modal peaks.

补充图1 糖酵解限速基因在受累显性遗传性营养不良性大疱性表皮松解症（DDEB）相关GATA3阳性2型辅助性T细胞（GATA3+ Th2）中呈上调表达。针对己糖激酶1（HK1）、丙酮酸激酶M（PKM）及磷酸果糖激酶1同工酶B（PFKL）的基因表达量，采用Nebulosa R包通过核密度估计算法拟合以估算概率密度。每张箱线图中部的黑色横线代表中位数，箱体上下边缘分别对应第75和第25百分位数，垂直线则代表数据的最小值与最大值。

补充图2 受累显性遗传性营养不良性大疱性表皮松解症（DDEB）皮肤中的GATA3+ Th2细胞呈现糖酵解通路的正向富集。本研究对受累及未受累DDEB皮肤与健康皮肤中的T细胞亚群进行单样本基因集富集分析。左图高亮展示了各亚群中经典糖酵解通路的标准化富集得分。每张箱线图中部的黑色横线代表中位数，箱体上下边缘分别对应第75和第25百分位数，垂直线则代表数据的最小值与最大值。右图采用山脊图可视化不同亚群及组间的标准化富集得分，以展示其众数得分。与同一亚群中呈现负向众数峰的健康细胞相比，DDEB受累组的3号亚群GATA3+ Th2细胞呈现经典糖酵解通路的正向富集，表现为正向的众数峰。