ALLELIC VARIANTS OF THE HUMAN PUTATIVE PEPTIDE TRANSPORTER INVOLVED IN ANTIGEN PROCESSING
ALLELIC VARIANTS OF THE HUMAN PUTATIVE PEPTIDE TRANSPORTER INVOLVED IN ANTIGEN PROCESSING
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DOI：
10.1073/pnas.89.9.3932
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发表时间：
1992-05-01
影响因子：
11.1
通讯作者：
SPIES, T
中科院分区：
文献类型：
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作者：
COLONNA, M;BRESNAHAN, M;SPIES, T
主要组织相容性复合体 (MHC) I 类分子呈递肽表位的抗原加工涉及 MHC II 类区域中的基因。其中，PSF1 和 PSF2 编码转运蛋白的亚基，该转运蛋白可能将胞浆肽穿过内质网膜递送至 I 类分子。转运蛋白和 I 类重链基因的这种密切功能关系以及它们在 MHC 内的连接提出了一个问题：PSF1 和 PSF2 是否像大多数 I 类基因一样具有多态性。通过单链构象多态性分析和 DNA 测序，在一组细胞系中鉴定出了 PSF1 和 PSF2 的少量氨基酸序列变异。这种有限的多态性可能导致功能转运蛋白水平的更高程度的变异性，其中PSF1和PSF2亚基的不同等位基因可能被组合。在对强直性脊柱炎、胰岛素依赖型糖尿病或乳糜泻患者的初步评估中，检查了 PSF1 和 PSF2 基因可能与 MHC 相关疾病的易感性有关。
Antigen processing for presentation of peptide epitopes by major histocompatibility complex (MHC) class I molecules involves genes in the MHC class II region. Among these, PSF1 and PSF2 encode subunits of a transporter, which presumably delivers cytosolic peptides across the endoplasmic reticulum membrane to class I molecules. This close functional relationship of the transporter and class I heavy chain genes and their linkage within the MHC raise the question of whether PSF1 and PSF2, like most class I genes, are polymorphic. By single-strand conformation polymorphism analysis and DNA sequencing, a small number of amino acid sequence variants of both PSF1 and PSF2 was identified in a panel of cell lines. This limited polymorphism may contribute to a higher degree of variability at the level of the functional transporter, in which different alleles of the PSF1 and PSF2 subunits may be combined. A possible involvement of the PSF1 and PSF2 genes in susceptibility to MHC-associated diseases was examined in a preliminary assessment in patients with ankylosing spondylitis, insulin-dependent diabetes mellitus, or celiac disease.