Le Bouteiller P
Unité INSERM 395, CHU Purpan, Toulouse, France.
Crit Rev Immunol. 1994;14(2):89-129. doi: 10.1615/critrevimmunol.v14.i2.10.
Among the various areas of recent investigation in the field of human MHC class I antigens, the following have been selected for discussion in this review: (1) classical HLA class I genes: are they ubiquitously expressed?, what are the special features of their polymorphism?, are HLA-C molecules functional?, (2) non-classical HLA class I gene products: how restricted is their tissue distribution?, do they exhibit a little polymorphism?, what is their function, if any? (3) non-HLA genes recently detected in the HLA class I chromosomal region: are some of them involved in immunological function and development?, (4) other novel coding sequences present, or possibly present, in the region: the hemochromatosis gene, grc region and associated tumor suppressor genes, housekeeping genes, human equivalent of the murine H-2M region and Ped gene; (5) transcriptional regulation: are there cis-regulatory elements, including locus control region(s), located elsewhere than in the promoters? are CpG methylation, gene imprinting, chromatin structure, DNA rearrangement also implicated? what are the transcription factors involved and how do they interact with each other? is there HLA class I locus-, allele-, or isoform-specific regulation? is class I gene expression dysregulated in human tumors? The answers to these questions are crucial for the development of the future directions for research.
在人类主要组织相容性复合体（MHC）I类抗原领域近期的各个研究方向中，以下内容被选入本综述进行讨论：（1）经典的HLA I类基因：它们是否在所有组织中均有表达？其多态性有哪些特点？HLA - C分子是否具有功能？（2）非经典的HLA I类基因产物：它们的组织分布有多局限？是否表现出少许多态性？它们有什么功能（如果有的话）？（3）最近在HLA I类染色体区域检测到的非HLA基因：其中一些是否参与免疫功能和发育？（4）该区域中存在或可能存在的其他新编码序列：血色素沉着症基因、grc区域及相关的肿瘤抑制基因、管家基因、小鼠H - 2M区域和Ped基因的人类同源物；（5）转录调控：是否存在位于启动子以外其他位置的顺式调控元件，包括基因座控制区？DNA甲基化、基因印记、染色质结构、DNA重排是否也有涉及？涉及哪些转录因子以及它们如何相互作用？是否存在HLA I类基因座、等位基因或异构体特异性调控？I类基因表达在人类肿瘤中是否失调？这些问题的答案对于未来研究方向的发展至关重要。
