Andersson G, Svensson A C, Setterblad N, Rask L
Department of Cell Research, Uppsala Genetic Center, Swedish University of Agricultural Sciences, Sweden.
Trends Genet. 1998 Mar;14(3):109-14. doi: 10.1016/s0168-9525(97)01359-0.
Molecular genetic studies of the human major histocompatibility complex (MHC) have led to the identification of more than 200 genes. Besides the large number of genes in the MHC, densely clustered areas of retroelements have been identified. These include short and long interspersed elements (SINEs and LINEs), and human endogenous retroviruses (HERVs). The presence of retroelements in the MHC provides a clear example of how these elements affect the genome plasticity of the host. Comparative analyses of these retroelements have proven highly useful in evolutionary studies of the MHC. Recently, HERV-encoded superantigens have been implicated as candidate autoimmune genes in type I diabetes and multiple sclerosis. In addition, genetic analyses have revealed that autoimmune diseases show strong associations with MHC class II genes. The intriguing correlations between retroviral encoded antigens, MHC class II genes and the development of autoimmune disease merit intense future investigations of retroelements, in particular those endogenous retroviruses located in the MHC class II region proper.
对人类主要组织相容性复合体（MHC）的分子遗传学研究已鉴定出200多个基因。除了MHC中有大量基因外，还发现了反转录元件的密集簇集区域。这些包括短散在元件和长散在元件（SINEs和LINEs）以及人类内源性逆转录病毒（HERVs）。MHC中反转录元件的存在清楚地说明了这些元件如何影响宿主的基因组可塑性。对这些反转录元件的比较分析在MHC的进化研究中已证明非常有用。最近，HERV编码的超抗原被认为是I型糖尿病和多发性硬化症的候选自身免疫基因。此外，遗传分析表明自身免疫性疾病与MHC II类基因有很强的关联。逆转录病毒编码抗原、MHC II类基因与自身免疫性疾病发展之间的有趣相关性值得未来对反转录元件，特别是位于MHC II类区域内的内源性逆转录病毒进行深入研究。
