Semple Fiona, MacPherson Heather, Webb Sheila, Kilanowski Fiona, Lettice Laura, McGlasson Sarah L, Wheeler Ann P, Chen Valerie, Millhauser Glenn L, Melrose Lauren, Davidson Donald J, Dorin Julia R
MRC Centre for Inflammation Research, University of Edinburgh, Queen's Medical Research Institute (QMRI), Edinburgh, United Kingdom.
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, United Kingdom.
PLoS Genet. 2015 Dec 8;11(12):e1005673. doi: 10.1371/journal.pgen.1005673. eCollection 2015 Dec.
Human β-defensin 3 (hBD3) is a cationic host defence peptide and is part of the innate immune response. HBD3 is present on a highly copy number variable block of six β-defensin genes, and increased copy number is associated with the autoimmune disease psoriasis. It is not known how this increase influences disease development, but psoriasis is a T cell-mediated disease and activation of the innate immune system is required for the initial trigger that leads to the amplification stage. We investigated the effect of hBD3 on the response of primary macrophages to various TLR agonists. HBD3 exacerbated the production of type I Interferon-β in response to the viral ligand mimic polyinosinic:polycytidylic acid (polyI:C) in both human and mouse primary cells, although production of the chemokine CXCL10 was suppressed. Compared to polyI:C alone, mice injected with both hBD3 peptide and polyI:C also showed an enhanced increase in Interferon-β. Mice expressing a transgene encoding hBD3 had elevated basal levels of Interferon-β, and challenge with polyI:C further increased this response. HBD3 peptide increased uptake of polyI:C by macrophages, however the cellular response and localisation of polyI:C in cells treated contemporaneously with hBD3 or cationic liposome differed. Immunohistochemistry showed that hBD3 and polyI:C do not co-localise, but in the presence of hBD3 less polyI:C localises to the early endosome. Using bone marrow derived macrophages from knockout mice we demonstrate that hBD3 suppresses the polyI:C-induced TLR3 response mediated by TICAM1 (TRIF), while exacerbating the cytoplasmic response through MDA5 (IFIH1) and MAVS (IPS1/CARDIF). Thus, hBD3, a highly copy number variable gene in human, influences cellular responses to the viral mimic polyI:C implying that copy number may have a significant phenotypic effect on the response to viral infection and development of autoimmunity in humans.
人β-防御素3(hBD3)是一种阳离子宿主防御肽,是先天免疫反应的一部分。HBD3存在于由六个β-防御素基因组成的高度拷贝数可变区域,拷贝数增加与自身免疫性疾病银屑病相关。目前尚不清楚这种增加如何影响疾病发展,但银屑病是一种T细胞介导的疾病,先天免疫系统的激活是导致疾病放大阶段的初始触发因素所必需的。我们研究了hBD3对原代巨噬细胞对各种TLR激动剂反应的影响。HBD3在人和小鼠原代细胞中均加剧了对病毒配体模拟物聚肌苷酸:聚胞苷酸(polyI:C)的I型干扰素-β的产生,尽管趋化因子CXCL10的产生受到抑制。与单独使用polyI:C相比,同时注射hBD3肽和polyI:C的小鼠中干扰素-β的增加也更为明显。表达编码hBD3转基因的小鼠干扰素-β的基础水平升高,用polyI:C刺激可进一步增强这种反应。hBD3肽增加了巨噬细胞对polyI:C的摄取,然而,与hBD3或阳离子脂质体同时处理的细胞中polyI:C的细胞反应和定位有所不同。免疫组织化学显示hBD3和polyI:C不共定位,但在hBD3存在的情况下,较少的polyI:C定位于早期内体。使用基因敲除小鼠的骨髓来源巨噬细胞,我们证明hBD3抑制了由TICAM1(TRIF)介导的polyI:C诱导的TLR3反应,同时通过MDA5(IFIH1)和MAVS(IPS1/CARDIF)加剧了细胞质反应。因此,hBD3作为人类中高度拷贝数可变的基因,影响细胞对病毒模拟物polyI:C的反应,这意味着拷贝数可能对人类对病毒感染的反应和自身免疫性疾病的发展具有显著的表型影响。