Department of Chemistry, Wayne State University, Detroit, MI 48202, USA.
Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Nucleic Acids Res. 2022 May 20;50(9):5145-5157. doi: 10.1093/nar/gkac296.
Activation-induced deaminase (AID) is a DNA-cytosine deaminase that mediates maturation of antibodies through somatic hypermutation and class-switch recombination. While it causes mutations in immunoglobulin heavy and light chain genes and strand breaks in the switch regions of the immunoglobulin heavy chain gene, it largely avoids causing such damage in the rest of the genome. To help understand targeting by human AID, we expressed it in repair-deficient Escherichia coli and mapped the created uracils in the genomic DNA using uracil pull-down and sequencing, UPD-seq. We found that both AID and the human APOBEC3A preferentially target tRNA genes and transcription start sites, but do not show preference for highly transcribed genes. Unlike A3A, AID did not show a strong replicative strand bias or a preference for hairpin loops. Overlapping uracilation peaks between these enzymes contained binding sites for a protein, FIS, that helps create topological domains in the E. coli genome. To confirm whether these findings were relevant to B cells, we examined mutations from lymphoma and leukemia genomes within AID-preferred sequences. These mutations also lacked replicative strand bias or a hairpin loop preference. We propose here a model for how AID avoids causing mutations in the single-stranded DNA found within replication forks.
激活诱导的脱氨酶(AID)是一种 DNA-胞嘧啶脱氨酶,通过体细胞超突变和类别转换重组介导抗体成熟。虽然它会导致免疫球蛋白重链和轻链基因的突变以及免疫球蛋白重链基因的转换区的链断裂,但它在基因组的其余部分中基本上避免了这种损伤的发生。为了帮助理解人类 AID 的靶向作用,我们在修复缺陷的大肠杆菌中表达了它,并使用尿嘧啶下拉和测序(UPD-seq)方法在基因组 DNA 中定位了产生的尿嘧啶。我们发现,AID 和人类 APOBEC3A 都优先靶向 tRNA 基因和转录起始位点,但不优先靶向高度转录的基因。与 A3A 不同,AID 没有强烈的复制链偏向性,也没有对发夹环的偏好。这些酶之间的重叠尿嘧啶峰包含一个蛋白 FIS 的结合位点,该蛋白有助于在大肠杆菌基因组中创建拓扑域。为了确认这些发现是否与 B 细胞有关,我们检查了淋巴瘤和白血病基因组中 AID 优先序列内的突变。这些突变也缺乏复制链偏向性或发夹环偏好。我们在这里提出了一个模型,说明 AID 如何避免在复制叉内发现的单链 DNA 中引起突变。