Stallings R L, Ford A F, Nelson D, Torney D C, Hildebrand C E, Moyzis R K
Center for Human Genome Studies, Los Alamos National Laboratory, New Mexico 87545.
Genomics. 1991 Jul;10(3):807-15. doi: 10.1016/0888-7543(91)90467-s.
The dinucleotide repetitive sequence, (GT)n, is highly interspersed in eukaryotic genomes and may have functional roles in genetic recombination or the modulation of transcriptional activity. We have examined the distribution and conservation of position of GT repetitive sequences in several mammalian genomes. The distribution of GT repetitive sequences in the human genome was determined by the analysis of over 3700 cosmid clones containing human insert DNA. On average, a GT repetitive sequence occurs every 30 kb in DNA from euchromatic regions. GT repetitive sequences are significantly underrepresented in centric heterochromatin. The density of GT repetitive sequences in the human genome could also be estimated by analyzing GenBank genomic sequences that include introns and flanking sequences. The frequency of GT repetitive sequences found in GenBank human DNA sequences was in close agreement with that obtained by experimental methods. GenBank genomic sequences also revealed that (GT)n repetitive sequences (n greater than 6) occur every 18 and 21 kb, on average, in mouse and rat genomes. Comparative analysis of 31 homologous sequences containing (GT)n repetitive sequences from several mammals representing four orders revealed that the positions of these repeats have been conserved between closely related species, such as humans and other primates. To a lesser extent, positions of GT repetitive sequences have been conserved between species in distantly related groups such as primates and rodents. The distribution and conservation of GT repetitive sequences is discussed with respect to possible functional roles of the repetitive sequence.
二核苷酸重复序列(GT)n在真核生物基因组中高度分散,可能在基因重组或转录活性调节中发挥功能作用。我们研究了GT重复序列在几个哺乳动物基因组中的分布和位置保守性。通过分析3700多个含有人类插入DNA的黏粒克隆,确定了GT重复序列在人类基因组中的分布。平均而言,常染色质区域的DNA中每30 kb出现一个GT重复序列。GT重复序列在着丝粒异染色质中的含量明显不足。通过分析包括内含子和侧翼序列的GenBank基因组序列,也可以估算人类基因组中GT重复序列的密度。在GenBank人类DNA序列中发现的GT重复序列频率与通过实验方法获得的频率非常一致。GenBank基因组序列还显示,在小鼠和大鼠基因组中,(GT)n重复序列(n大于6)平均每18和21 kb出现一次。对来自代表四个目的几种哺乳动物的31个含有(GT)n重复序列的同源序列进行比较分析,结果表明,这些重复序列的位置在亲缘关系较近的物种(如人类和其他灵长类动物)之间是保守的。在亲缘关系较远的类群(如灵长类动物和啮齿动物)的物种之间,GT重复序列的位置在较小程度上也是保守的。本文就重复序列可能的功能作用对GT重复序列的分布和保守性进行了讨论。