Centro de Biología Molecular Severo Ochoa, CSIC-UAM, 28049 Madrid, Spain.
Mol Cell Proteomics. 2012 Nov;11(11):1416-29. doi: 10.1074/mcp.M112.019588. Epub 2012 Aug 23.
The association of ERAP1 with ankylosing spondylitis (AS)1 among HLA-B27-positive individuals suggests that ERAP1 polymorphism may affect pathogenesis by altering peptide-dependent features of the HLA-B27 molecule. Comparisons of HLA-B*27:04-bound peptidomes from cells expressing different natural variants of ERAP1 revealed significant differences in the size, length, and amount of many ligands, as well as in HLA-B27 stability. Peptide analyses suggested that the mechanism of ERAP1/HLA-B27 interaction is a variant-dependent alteration in the balance between epitope generation and destruction determined by the susceptibility of N-terminal flanking and P1 residues to trimming. ERAP1 polymorphism associated with AS susceptibility ensured efficient peptide trimming and high HLA-B27 stability. Protective polymorphism resulted in diminished ERAP1 activity, less efficient trimming, suboptimal HLA-B27 peptidomes, and decreased molecular stability. This study demonstrates that natural ERAP1 polymorphism affects HLA-B27 antigen presentation and stability in vivo and proposes a mechanism for the interaction between these molecules in AS.
ERAP1 与 HLA-B27 阳性个体中的强直性脊柱炎 (AS) 的关联表明,ERAP1 多态性可能通过改变 HLA-B27 分子的肽依赖性特征来影响发病机制。比较表达不同天然 ERAP1 变体的细胞中 HLA-B*27:04 结合的肽组,发现许多配体的大小、长度和数量以及 HLA-B27 稳定性存在显著差异。肽分析表明,ERAP1/HLA-B27 相互作用的机制是由易感性决定的 N 端侧翼和 P1 残基的修剪决定的表位生成和破坏之间平衡的变体依赖性改变。与 AS 易感性相关的 ERAP1 多态性确保了有效的肽修剪和高 HLA-B27 稳定性。保护性多态性导致 ERAP1 活性降低、修剪效率降低、HLA-B27 肽组不理想和分子稳定性降低。这项研究表明,天然 ERAP1 多态性影响体内 HLA-B27 抗原呈递和稳定性,并提出了 AS 中这些分子相互作用的机制。