Axelsson Erik, Webster Matthew T, Smith Nick G C, Burt David W, Ellegren Hans
Department of Evolutionary Biology, Evolutionary Biology Centre, Uppsala University, SE-752 36 Uppsala, Sweden.
Genome Res. 2005 Jan;15(1):120-5. doi: 10.1101/gr.3021305. Epub 2004 Dec 8.
A distinctive feature of the avian genome is the large heterogeneity in the size of chromosomes, which are usually classified into a small number of macrochromosomes and numerous microchromosomes. These chromosome classes show characteristic differences in a number of interrelated features that could potentially affect the rate of sequence evolution, such as GC content, gene density, and recombination rate. We studied the effects of these factors by analyzing patterns of nucleotide substitution in two sets of chicken-turkey sequence alignments. First, in a set of 67 orthologous introns, divergence was significantly higher in microchromosomes (chromosomes 11-38; 11.7% divergence) than in both macrochromosomes (chromosomes 1-5; 9.9% divergence; P = 0.016) and intermediate-sized chromosomes (chromosomes 6-10; 9.5% divergence; P = 0.026). At least part of this difference was due to the higher incidence of CpG sites on microchromosomes. Second, using 155 orthologous coding sequences we noted a similar pattern, in which synonymous substitution rates on microchromosomes (13.1%) were significantly higher than were rates on macrochromosomes (10.3%; P = 0.024). Broadly assuming neutrality of introns and synonymous sites, or constraints on such sequences do not differ between chromosomal classes, these observations imply that microchromosomal genes are exposed to more germ line mutations than those on other chromosomes. We also find that dN/dS ratios for genes located on microchromosomes (average, 0.094) are significantly lower than those of macrochromosomes (average, 0.185; P = 0.025), suggesting that the proteins of genes on microchromosomes are under greater evolutionary constraint.
鸟类基因组的一个显著特征是染色体大小存在很大的异质性,通常被分为少数几个大染色体和众多小染色体。这些染色体类别在一些相互关联的特征上表现出显著差异,这些特征可能会影响序列进化的速率,如GC含量、基因密度和重组率。我们通过分析两组鸡 - 火鸡序列比对中的核苷酸替换模式,研究了这些因素的影响。首先,在一组67个直系同源内含子中,小染色体(11 - 38号染色体;分歧率为11.7%)的分歧明显高于大染色体(1 - 5号染色体;分歧率为9.9%;P = 0.016)和中等大小染色体(6 - 10号染色体;分歧率为9.5%;P = 0.026)。这种差异至少部分是由于小染色体上CpG位点的发生率较高。其次,使用155个直系同源编码序列,我们注意到了类似的模式,即小染色体上的同义替换率(13.1%)明显高于大染色体上的同义替换率(10.3%;P = 0.024)。大致假设内含子和同义位点处于中性,或者染色体类别之间对这些序列的限制没有差异,这些观察结果意味着小染色体基因比其他染色体上的基因更容易受到生殖系突变的影响。我们还发现,位于小染色体上的基因的dN/dS比率(平均为0.094)明显低于大染色体上的基因(平均为0.185;P = 0.025),这表明小染色体上基因的蛋白质受到更大的进化限制。