Borstnik B, Pumpernik D, Lukman D, Ugarković D, Plohl M
National Institute of Chemistry, Ljubljana, Slovenia.
Nucleic Acids Res. 1994 Aug 25;22(16):3412-7. doi: 10.1093/nar/22.16.3412.
Genetic sequence data banks were scanned in order to retrieve tandemly repeated pentanucleotides (pnts). It was found that among 102 (=(1024-4)/2/5) possible distinct pnts roughly each fourth is involved in tandem repeats. It is shown that tandemly repeated pnts are composed of frequently occurring di- and trinucleotides and that those pnts which occur frequently in the form of mono- or di-pnts form also tandem repeats either in the form of satellites or in the form of shorter tandem repeats. Human satellite III is taken as a specific example. It is shown that the first guanine within GG-AAT pnt exhibits the highest mutability. Sequential distribution of base changes gives evidence that the mutations do not occur at random positions but in a correlated fashion so that long stretches of original pnts remain intact. It is found that pnts related to the satellite III are present in introns and flanking regions of some structural genes, but are not preserved between orthologous genes of related species. The results corroborate the most plausible mechanism of their evolution--rapid amplification followed by successive divergence of repeat units by various mutational processes.
扫描基因序列数据库以检索串联重复的五核苷酸(pnts)。结果发现,在102个(=(1024 - 4)/2/5)可能不同的pnts中,大约每四个就有一个参与串联重复。结果表明,串联重复的pnts由频繁出现的二核苷酸和三核苷酸组成,那些以单核苷酸或二核苷酸形式频繁出现的pnts也以卫星形式或较短串联重复形式形成串联重复。以人类卫星III为例。结果表明,GG - AAT pnt中的第一个鸟嘌呤具有最高的可变性。碱基变化的顺序分布表明,突变并非随机发生在各个位置,而是以相关的方式发生,从而使长段的原始pnts保持完整。研究发现,与卫星III相关的pnts存在于一些结构基因的内含子和侧翼区域,但在相关物种的直系同源基因之间并不保守。这些结果证实了它们最合理的进化机制——快速扩增,随后重复单元通过各种突变过程连续分化。