Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
Micro-Imaging Center, Shriners Hospitals for Children, Portland, Oregon, USA.
J Invest Dermatol. 2022 Nov;142(11):2940-2948.e2. doi: 10.1016/j.jid.2022.04.025. Epub 2022 May 22.
AMACO (VWA2 protein) is a basement membrane-associated protein secreted by epithelial cells. It is strongly expressed when invagination or budding occurs during development. AMACO associates with the Fraser complex, which when mutated causes Fraser syndrome, characterized by subepidermal blistering, cryptophthalmos, and syndactyly. The core Fraser complex proteins FRAS1, FREM1, and FREM2 localize at the dermal‒epidermal junction and mediate adhesion to the underlying dermis during embryonic development. Earlier transmission electron microscopy studies of adult mouse skin showed clustered AMACO deposition below the lamina densa. In this study, we report a distinct cord-like suprastructure in the neonate dermis to which AMACO- and Fraser complex‒associated proteins contribute. We propose anchoring cords to designate the suprastructure. Anchoring cords have a diameter of 60 nm when immunolabeled, originate from the basement membrane, and extend several microns into the dermis. In normal skin, they are evident after immunogold electron microscopy and are strikingly appreciated in thicker sections. In recessive dystrophic epidermolysis bullosa skin, they are directly visible where collagen VII anchoring fibrils are ablated. Immunofluorescence and coimmunoprecipitation of skin extracts identify a direct interaction of FREM2 and AMACO.
AMACO(VWA2 蛋白)是一种基底膜相关蛋白,由上皮细胞分泌。在发育过程中发生内陷或芽生时,其表达强烈。AMACO 与 Fraser 复合物相关,当 Fraser 复合物发生突变时会导致 Fraser 综合征,其特征为表皮下水疱、隐眼和并指。核心 Fraser 复合物蛋白 FRAS1、FREM1 和 FREM2 定位于表皮-真皮交界处,并在胚胎发育过程中介导与下面真皮的黏附。先前对成年小鼠皮肤的透射电子显微镜研究表明,在致密层下方有聚集的 AMACO 沉积。在这项研究中,我们报告了新生儿真皮中一种独特的条索状超微结构,该结构与 AMACO 和 Fraser 复合物相关蛋白有关。我们提出用锚定索来命名该超微结构。当免疫标记时,锚定索的直径为 60nm,起源于基底膜,并向真皮延伸数微米。在正常皮肤中,免疫金电子显微镜下可见锚定索,在较厚的切片中更为明显。在隐性营养不良性大疱性表皮松解症皮肤中,在胶原 VII 锚定纤维被消融的部位,锚定索可以直接观察到。皮肤提取物的免疫荧光和共免疫沉淀鉴定了 FREM2 和 AMACO 的直接相互作用。