Klein D, Vincek V, Kasahara M, Schönbach C, O'hUigin C, Klein J
Department of Microbiology and Immunology, University of Miami School of Medicine, Florida.
Hum Immunol. 1991 Nov;32(3):211-20. doi: 10.1016/0198-8859(91)90058-h.
The HLA-DR4 haplotype consists of four DRB genes: DRB104, DRBVII, DRBVIII, and DRB401, arranged in this order on the chromosome. The DRB1 and DRB4 genes code for beta chains of the alpha beta heterodimers expressed on the cell surface and bearing the HLA-DR4 and HLA-DRw53 determinants, respectively; the DRBVII and DRBVIII are pseudogenes. We found and sequenced a gene closely related to HLA-DRBVIII in the genome of the lowland gorilla "Sylvia." We designate this gene Gogo-DRB8. The close relationship between the two genes is indicated by the overall sequence similarity, the absence of recognizable exons 1 and 2 in both genes, the presence of two Alu repeats at corresponding positions, and high sequence similarity between corresponding repeats. The comparison with an outgroup (tamarin) gene and the functional counterparts of the DRB8 gene indicate that DRB8 emerged between 18 and 26 million years ago and became inactivated at the same time as or shortly after its creation. Hence DRB8 has probably existed as a pseudogene since the divergence of apes from Old World monkeys more than 20 million years ago.
HLA - DR4单倍型由四个DRB基因组成：DRB104、DRBVII、DRBVIII和DRB401，在染色体上按此顺序排列。DRB1和DRB4基因分别编码在细胞表面表达并带有HLA - DR4和HLA - DRw53决定簇的αβ异二聚体的β链；DRBVII和DRBVIII是假基因。我们在低地大猩猩“西尔维亚”的基因组中发现并测序了一个与HLA - DRBVIII密切相关的基因。我们将此基因命名为Gogo - DRB8。这两个基因之间的密切关系表现为整体序列相似性、两个基因中均不存在可识别的外显子1和2、在相应位置存在两个Alu重复序列以及相应重复序列之间的高度序列相似性。与一个外群（绢毛猴）基因以及DRB8基因的功能对应物的比较表明，DRB8在1800万至2600万年前出现，并在其产生的同时或之后不久失活。因此，自2000多万年前猿类与旧世界猴分化以来，DRB8可能一直以假基因的形式存在。
