Toulouse Institute for Infectious and Inflammatory Diseases (Infinity), University of Toulouse, CNRS, INSERM, University Paul Sabatier, 31024 Toulouse, France.
Philos Trans R Soc Lond B Biol Sci. 2023 Nov 20;378(1890):20220245. doi: 10.1098/rstb.2022.0245. Epub 2023 Oct 2.
Peptidylarginine deiminases (PADs) transform a protein arginine residue into the non-standard amino acid citrulline. This calcium-dependent post-translational modification of proteins is called citrullination or deimination. As described in this special issue, PADs play a role in various physiological processes, and PAD deregulations are involved in many human diseases. Three PADs are expressed in the epidermis, where their roles begin to be deciphered. PAD1 and PAD3 are involved in keratinocyte differentiation, particularly in the epidermal barrier function, keratins, filaggrin and filaggrin-related proteins being the most abundant deiminated epidermal proteins. Reduced amounts of deiminated proteins and PAD1 expression may be involved in the pathogenesis of psoriasis and atopic dermatitis, two very frequent and chronic skin inflammatory diseases. The trichohyalin/PAD3/transglutaminase three pathway is important for hair shaft formation. Mutations of the gene, leading to a decreased activity or abnormal localization of the corresponding isotype, are the cause of a rare hair disorder called uncombable hair syndrome, and are associated with the central centrifugal cicatricial alopecia, a frequent alopecia mainly affecting women of African ancestry. This article is part of the Theo Murphy meeting issue 'The virtues and vices of protein citrullination'.
肽基精氨酸脱亚氨酶(PADs)将蛋白质精氨酸残基转化为非标准氨基酸瓜氨酸。这种依赖于钙离子的蛋白质翻译后修饰被称为瓜氨酸化或脱亚氨作用。正如本期特刊所述,PADs 在多种生理过程中发挥作用,PAD 的失调与许多人类疾病有关。三种 PADs 在表皮中表达,其作用开始被破译。PAD1 和 PAD3 参与角质形成细胞分化,特别是在表皮屏障功能中,角蛋白、丝聚蛋白和丝聚蛋白相关蛋白是最丰富的脱亚氨表皮蛋白。脱亚氨蛋白和 PAD1 表达量的减少可能与银屑病和特应性皮炎(两种非常常见且慢性的皮肤炎症性疾病)的发病机制有关。毛干形成的 Trichohyalin/PAD3/转谷氨酰胺酶 3 途径很重要。导致相应同工型活性降低或异常定位的基因 突变是一种罕见的毛发疾病称为不可梳理综合征的原因,并且与中央离心性瘢痕性脱发有关,这是一种主要影响非洲裔女性的常见脱发。本文是特刊“蛋白质瓜氨酸化的优缺点”中 Theo Murphy 会议的一部分。