Zheng Nai-Ying, Wilson Kenneth, Jared Matthew, Wilson Patrick C
Molecular Immunogenetics Program, The Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
J Exp Med. 2005 May 2;201(9):1467-78. doi: 10.1084/jem.20042483.
It is believed that immunoglobulin-variable region gene (IgV) somatic hypermutation (SHM) is initiated by activation-induced cytidine deaminase (AID) upon deamination of cytidine to deoxyuracil. Patch-excision repair of these lesions involving error prone DNA polymerases such as poleta causes mutations at all base positions. If not repaired, the deaminated nucleotides on the coding and noncoding strands result in C-to-T and G-to-A exchanges, respectively. Herein it is reported that IgV gene evolution has been considerably influenced by the need to accommodate extensive C deaminations and the resulting accumulation of C-to-T and G-to-A exchanges. Although seemingly counterintuitive, the precise placement of C and G nucleotides causes most C-to-T and G-to-A mutations to be silent or conservative. We hypothesize that without intricate positioning of C and G nucleotides the efficiency of affinity maturation would be significantly reduced due to a dominance of replacements caused by C and G transition mutations. The complexity of these evolved biases in codon use are compounded by the precise concomitant hotspot/coldspot targeting of AID activity and Poleta errors to maximize SHM in the CDRs and minimize mutations in the FWRs.
据信,免疫球蛋白可变区基因(IgV)的体细胞超突变(SHM)是由激活诱导的胞苷脱氨酶(AID)将胞苷脱氨为脱氧尿嘧啶后启动的。这些损伤的补丁切除修复涉及易错DNA聚合酶(如polη),会在所有碱基位置引起突变。如果不进行修复,编码链和非编码链上的脱氨核苷酸分别导致C到T和G到A的交换。本文报道,IgV基因的进化受到适应广泛的C脱氨以及由此产生的C到T和G到A交换积累的显著影响。尽管看似违反直觉,但C和G核苷酸的精确位置使得大多数C到T和G到A突变是沉默的或保守的。我们假设,如果没有C和G核苷酸的复杂定位,由于C和G转换突变导致的替换占主导,亲和力成熟的效率将显著降低。AID活性和polη错误的精确伴随热点/冷点靶向,使CDR中的SHM最大化,FWR中的突变最小化,这进一步加剧了这些进化的密码子使用偏差的复杂性。