Raymond Christopher K, Kas Arnold, Paddock Marcia, Qiu Ruolan, Zhou Yang, Subramanian Sandhya, Chang Jean, Palmieri Anthony, Haugen Eric, Kaul Rajinder, Olson Maynard V
University of Washington Genome Center, Department of Medicine, University of Washington, Seattle, Washington 98195, USA.
Genome Res. 2005 Sep;15(9):1250-7. doi: 10.1101/gr.3554305.
Allelic variation in codons that specify amino acids that line the peptide-binding pockets of HLA's Class II antigen-presenting proteins is superimposed on strikingly few deeply diverged haplotypes. These haplotypes appear to have been evolving almost independently for tens of millions of years. By complete resequencing of 20 haplotypes across the approximately 100-kbp region that spans the HLA-DQA1, -DQB1, and -DRB1 genes, we provide a detailed view of the way in which the genome structure at this locus has been shaped by the interplay of selection, gene-gene interaction, and recombination.
构成HLA II类抗原呈递蛋白肽结合口袋的氨基酸的密码子中的等位基因变异叠加在极少的深度分化单倍型上。这些单倍型似乎已经独立进化了数千万年。通过对跨越HLA-DQA1、-DQB1和-DRB1基因的约100kbp区域内的20个单倍型进行完全重测序，我们详细了解了该基因座的基因组结构是如何通过选择、基因-基因相互作用和重组的相互作用而形成的。
