Han Leng, Su Bing, Li Wen-Hsiung, Zhao Zhongming
Department of Psychiatry, Virginia Commonwealth University, Richmond, VA 23298, USA.
Genome Biol. 2008;9(5):R79. doi: 10.1186/gb-2008-9-5-r79. Epub 2008 May 13.
CpG islands, which are clusters of CpG dinucleotides in GC-rich regions, are considered gene markers and represent an important feature of mammalian genomes. Previous studies of CpG islands have largely been on specific loci or within one genome. To date, there seems to be no comparative analysis of CpG islands and their density at the DNA sequence level among mammalian genomes and of their correlations with other genome features.
In this study, we performed a systematic analysis of CpG islands in ten mammalian genomes. We found that both the number of CpG islands and their density vary greatly among genomes, though many of these genomes encode similar numbers of genes. We observed significant correlations between CpG island density and genomic features such as number of chromosomes, chromosome size, and recombination rate. We also observed a trend of higher CpG island density in telomeric regions. Furthermore, we evaluated the performance of three computational algorithms for CpG island identifications. Finally, we compared our observations in mammals to other non-mammal vertebrates.
Our study revealed that CpG islands vary greatly among mammalian genomes. Some factors such as recombination rate and chromosome size might have influenced the evolution of CpG islands in the course of mammalian evolution. Our results suggest a scenario in which an increase in chromosome number increases the rate of recombination, which in turn elevates GC content to help prevent loss of CpG islands and maintain their density. These findings should be useful for studying mammalian genomes, the role of CpG islands in gene function, and molecular evolution.
CpG岛是富含GC区域中CpG二核苷酸的簇,被视为基因标记,代表了哺乳动物基因组的一个重要特征。先前对CpG岛的研究主要集中在特定基因座或单个基因组内。迄今为止,似乎尚无关于哺乳动物基因组间CpG岛及其在DNA序列水平上的密度的比较分析,以及它们与其他基因组特征的相关性分析。
在本研究中,我们对十个哺乳动物基因组中的CpG岛进行了系统分析。我们发现,尽管许多这些基因组编码的基因数量相似,但CpG岛的数量及其密度在不同基因组间差异很大。我们观察到CpG岛密度与基因组特征(如染色体数量、染色体大小和重组率)之间存在显著相关性。我们还观察到端粒区域中CpG岛密度较高的趋势。此外,我们评估了三种用于识别CpG岛的计算算法的性能。最后,我们将在哺乳动物中的观察结果与其他非哺乳动物脊椎动物进行了比较。
我们的研究表明,CpG岛在哺乳动物基因组间差异很大。诸如重组率和染色体大小等一些因素可能在哺乳动物进化过程中影响了CpG岛的进化。我们的结果表明了一种情况,即染色体数量的增加会提高重组率,进而提高GC含量,以帮助防止CpG岛的丢失并维持其密度。这些发现对于研究哺乳动物基因组、CpG岛在基因功能中的作用以及分子进化应是有用的。