Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang University, Beijing, China; Medical Inflammation Research, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.
Medical Inflammation Research, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden; Department of Hematology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
J Invest Dermatol. 2021 Jul;141(7):1765-1771.e4. doi: 10.1016/j.jid.2021.01.006. Epub 2021 Feb 2.
A basis for the genetic predisposition to psoriasis is a single locus, PSORS1, within the major histocompatibility complex I region. This murine major histocompatibility complex locus encodes nonclassical molecules such as Qa2. We hypothesized that a natural loss-of-function variant of Qa2 gene clusters promotes psoriasis. In this study, we have developed a mannan-induced psoriasis model with the double deficiency of Qa2 and ROS owing to natural mutations of Qa2 gene clusters and the Ncf1 gene in the C57BL/6 background, respectively. We report three key findings in mice with mannan-induced psoriasis. A complete deficiency of Qa2 resulted in the expansion of IL-17‒producing γδ T cells and group 3 innate lymphoid cells in draining lymph nodes, leading to ear psoriasis. A single copy of Qa2-encoding genes was enough to protect against mannan-induced psoriasis, and such a protection was erased by a mutated Ncf1. Double defects with Qa2 and Ncf1 elicited a spread of exaggerated ear psoriasis to the nails, and the deficiency of γδ T cells reduced the severity of nail psoriasis. Collectively, these findings in mice provide evidence for the importance of Ncf1 mutations and Qa2 gene clusters, possibly corresponding to the PSORS1 locus in the spread of psoriasis.
银屑病遗传易感性的基础是主要组织相容性复合体 I 区域内的单一基因座 PSORS1。该鼠主要组织相容性复合体基因座编码非经典分子,如 Qa2。我们假设 Qa2 基因簇的自然失活变体促进银屑病。在这项研究中,我们在 C57BL/6 背景下分别由于 Qa2 基因簇和 Ncf1 基因的自然突变,开发了一种具有 Qa2 和 ROS 双重缺失的甘露聚糖诱导的银屑病模型。我们在患有甘露聚糖诱导的银屑病的小鼠中报告了三个关键发现。完全缺乏 Qa2 导致引流淋巴结中产生 IL-17 的 γδ T 细胞和第三组先天淋巴细胞的扩增,导致耳部银屑病。单个 Qa2 编码基因足以预防甘露聚糖诱导的银屑病,而突变的 Ncf1 则消除了这种保护。Qa2 和 Ncf1 的双重缺陷引发了夸张的耳部银屑病向指甲的扩散,而 γδ T 细胞的缺乏则降低了指甲银屑病的严重程度。总之,这些在小鼠中的发现为 Ncf1 突变和 Qa2 基因簇的重要性提供了证据,可能对应于银屑病传播中的 PSORS1 基因座。