Benevolenskaia E V, Kogan G L, Balakireva M D, Filipp D, Arman I P, Gvozdev V A
Genetika. 1994 Mar;30(3):318-25.
A pseudogene bearing the bulk of the 18S RNA gene was detected outside the rDNA cluster. It comprised irregularly distributed nucleotide substitutions as well as short insertions and deletions. No sequence alterations were observed in the 5' region of the pseudogene, whereas the frequency of substitutions and alterations per nucleotide number in the 3' region and in the middle of the sequence was 7.6% and 1.8%, respectively. The observed sharp irregularity in distribution of substitutions and alterations was considered the result of successive recombinations between the functional 18S rRNA gene and its diverged or damaged variants. This phenomenon provides experimental evidence that recombinations between the pseudogene and functioning repeats of rDNA are implicated in the mechanism of rDNA sequence correction. A segment of the pseudogene sequence was shown to contain substitutions primarily in regions coding for single-strand parts of the RNA molecule. The same segment contained a deletion and an insertion of a nucleotide, approximating it to the most of the studied eukaryotic 18S rRNA sequences. These observations allowed us to supposed that a structural rDNA variant, a fragment of which appears in the pseudogene sequence, is present in the genome. The data obtained suggest both the presence of 18S rDNA variants, and recombination between them, determining the concerted evolution of rRNA genes.
在核糖体DNA(rDNA)簇之外检测到一个携带大部分18S rRNA基因的假基因。它包含分布不规则的核苷酸替换以及短插入和缺失。在假基因的5'区域未观察到序列改变,而在3'区域和序列中部每核苷酸数的替换和改变频率分别为7.6%和1.8%。观察到的替换和改变分布的明显不规则性被认为是功能性18S rRNA基因与其分化或受损变体之间连续重组的结果。这一现象提供了实验证据,表明假基因与rDNA的功能性重复序列之间的重组参与了rDNA序列校正机制。假基因序列的一段显示主要在编码RNA分子单链部分的区域存在替换。同一区段包含一个核苷酸的缺失和插入,使其与大多数研究的真核18S rRNA序列相近。这些观察结果使我们推测基因组中存在一种结构rDNA变体,其片段出现在假基因序列中。获得的数据表明18S rDNA变体的存在以及它们之间的重组,决定了rRNA基因的协同进化。