Svensson A C, Setterblad N, Pihlgren U, Rask L, Andersson G
Uppsala Genetic Center, Department of Cell Research, Swedish University of Agricultural Sciences, Box 7055, S-750 07 Uppsala, Sweden.
Immunogenetics. 1996;43(5):304-14. doi: 10.1007/BF02440998.
HLA-DR haplotypes of the human major histocompatibility complex are organized in five different groups. They can be identified based on the serological specificity expressed by the polymorphic DRB1 locus and by the presence of a characteristic set of DRB genes. The nucleotide sequences of introns 4 and 5 of the two DRB genes (DRB1()01 and DRB6()01 ) from a DR1 haplotype and the three DRB genes (DRB1()15, DRB6()15 , and DRB5(*)15 ), from a DR51 haplotype were determined. This study identified endogenous retroviral long terminal repeat elements (ERV9 LTR) located at identical positions in intron 5 of the DRB1 genes in both the DR1 and DR51 haplotypes. Phylogenetic analyses revealed a close evolutionary relationship between these two haplotypes. The DRB5 gene, unique for the DR51 haplotype, may have been lost by a recent gene deletion event creating the DR1 haplotype. A model for the evolution of the human DR haplotypes involving separate duplication and contraction events is presented.
人类主要组织相容性复合体的HLA - DR单倍型分为五个不同的组。它们可以根据多态性DRB1位点所表达的血清学特异性以及一组特征性DRB基因的存在来识别。测定了来自DR1单倍型的两个DRB基因（DRB1()01和DRB6()01）以及来自DR51单倍型的三个DRB基因（DRB1()15、DRB6()15和DRB5(*)15）的内含子4和5的核苷酸序列。本研究鉴定出在DR1和DR51单倍型的DRB1基因内含子5中位于相同位置的内源性逆转录病毒长末端重复元件（ERV9 LTR）。系统发育分析揭示了这两种单倍型之间密切的进化关系。DR51单倍型特有的DRB5基因可能因最近的基因缺失事件而丢失，从而产生了DR1单倍型。本文提出了一个涉及单独的复制和收缩事件的人类DR单倍型进化模型。
