INSERM, U1081, Institute for Research on Cancer and Aging, Nice, Nice, France.
PLoS Genet. 2013 May;9(5):e1003499. doi: 10.1371/journal.pgen.1003499. Epub 2013 May 9.
L1 retrotransposons have a prominent role in reshaping mammalian genomes. To replicate, the L1 ribonucleoprotein particle (RNP) first uses its endonuclease (EN) to nick the genomic DNA. The newly generated DNA end is subsequently used as a primer to initiate reverse transcription within the L1 RNA poly(A) tail, a process known as target-primed reverse transcription (TPRT). Prior studies demonstrated that most L1 insertions occur into sequences related to the L1 EN consensus sequence (degenerate 5'-TTTT/A-3' sites) and frequently preceded by imperfect T-tracts. However, it is currently unclear whether--and to which degree--the liberated 3'-hydroxyl extremity on the genomic DNA needs to be accessible and complementary to the poly(A) tail of the L1 RNA for efficient priming of reverse transcription. Here, we employed a direct assay for the initiation of L1 reverse transcription to define the molecular rules that guide this process. First, efficient priming is detected with as few as 4 matching nucleotides at the primer 3' end. Second, L1 RNP can tolerate terminal mismatches if they are compensated within the 10 last bases of the primer by an increased number of matching nucleotides. All terminal mismatches are not equally detrimental to DNA extension, a C being extended at higher levels than an A or a G. Third, efficient priming in the context of duplex DNA requires a 3' overhang. This suggests the possible existence of additional DNA processing steps, which generate a single-stranded 3' end to allow L1 reverse transcription. Based on these data we propose that the specificity of L1 reverse transcription initiation contributes, together with the specificity of the initial EN cleavage, to the distribution of new L1 insertions within the human genome.
L1 反转录转座子在重塑哺乳动物基因组方面起着重要作用。为了复制,L1 核糖核蛋白颗粒(RNP)首先利用其内切酶(EN)在基因组 DNA 上打缺口。新生成的 DNA 末端随后被用作引物,在 L1 RNA 多聚(A)尾内启动逆转录,这一过程称为靶向引物逆转录(TPRT)。先前的研究表明,大多数 L1 插入发生在与 L1 EN 保守序列(退化的 5'-TTTT/A-3' 位点)相关的序列中,并且通常前面有不完美的 T 链。然而,目前尚不清楚基因组 DNA 上释放的 3'-羟基末端是否需要可及并与 L1 RNA 的多聚(A)尾互补,以有效地启动逆转录。在这里,我们采用直接测定法测定 L1 逆转录的起始,以确定指导这一过程的分子规则。首先,在引物 3' 末端只有 4 个匹配核苷酸就能检测到有效的启动。其次,如果在引物的最后 10 个碱基内通过增加匹配的核苷酸数来补偿末端错配,则 L1 RNP 可以容忍末端错配。所有末端错配对 DNA 延伸的不利程度并不相同,C 的延伸水平高于 A 或 G。第三,双链 DNA 中有效的启动需要 3' 突出。这表明可能存在额外的 DNA 加工步骤,这些步骤产生单链 3' 末端,以允许 L1 逆转录。基于这些数据,我们提出 L1 逆转录起始的特异性与初始 EN 切割的特异性一起,有助于新 L1 插入在人类基因组中的分布。