Parkinson Nicholas J, Roddis Matthew, Ferneyhough Ben, Zhang Gang, Marsden Adam J, Maslau Siarhei, Sanchez-Pearson Yasmin, Barthlott Thomas, Humphreys Ian R, Ladell Kristin, Price David A, Ponting Chris P, Hollander Georg, Fischer Michael D
Systems Biology Laboratory UK, Abingdon, Oxfordshire OX14 4SA, United Kingdom;
Systems Biology Laboratory UK, Abingdon, Oxfordshire OX14 4SA, United Kingdom; MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, United Kingdom;
Genome Res. 2015 Feb;25(2):226-34. doi: 10.1101/gr.179770.114. Epub 2014 Nov 3.
V(D)J genomic recombination joins single gene segments to encode an extensive repertoire of antigen receptor specificities in T and B lymphocytes. This process initiates with double-stranded breaks adjacent to conserved recombination signal sequences that contain either 12- or 23-nucleotide spacer regions. Only recombination between signal sequences with unequal spacers results in productive coding genes, a phenomenon known as the "12/23 rule." Here we present two novel genomic tools that allow the capture and analysis of immune locus rearrangements from whole thymic and splenic tissues using second-generation sequencing. Further, we provide strong evidence that the 12/23 rule of genomic recombination is frequently violated under physiological conditions, resulting in unanticipated hybrid recombinations in ∼10% of Tcra excision circles. Hence, we demonstrate that strict adherence to the 12/23 rule is intrinsic neither to recombination signal sequences nor to the catalytic process of recombination and propose that nonclassical excision circles are liberated during the formation of antigen receptor diversity.
V(D)J基因组重组将单个基因片段连接起来,以编码T淋巴细胞和B淋巴细胞中广泛的抗原受体特异性。这个过程始于与保守重组信号序列相邻的双链断裂,这些信号序列包含12或23个核苷酸的间隔区。只有具有不等间隔区的信号序列之间的重组才能产生有功能的编码基因,这一现象被称为“12/23规则”。在这里,我们展示了两种新型基因组工具,它们能够利用第二代测序技术从整个胸腺和脾脏组织中捕获并分析免疫基因座重排。此外,我们提供了强有力的证据表明,在生理条件下,基因组重组的12/23规则经常被违反,导致约10%的Tcra切除环中出现意外的混合重组。因此,我们证明,严格遵守12/23规则对于重组信号序列或重组的催化过程都不是内在的,并提出在抗原受体多样性形成过程中释放出了非经典切除环。