Singh Nadia D, Arndt Peter F, Petrov Dmitri A
Department of Biological Sciences, Stanford University, Stanford, California 94305-5020, USA.
Genetics. 2005 Feb;169(2):709-22. doi: 10.1534/genetics.104.032250. Epub 2004 Nov 1.
Mutation is the underlying force that provides the variation upon which evolutionary forces can act. It is important to understand how mutation rates vary within genomes and how the probabilities of fixation of new mutations vary as well. If substitutional processes across the genome are heterogeneous, then examining patterns of coding sequence evolution without taking these underlying variations into account may be misleading. Here we present the first rigorous test of substitution rate heterogeneity in the Drosophila melanogaster genome using almost 1500 nonfunctional fragments of the transposable element DNAREP1_DM. Not only do our analyses suggest that substitutional patterns in heterochromatic and euchromatic sequences are different, but also they provide support in favor of a recombination-associated substitutional bias toward G and C in this species. The magnitude of this bias is entirely sufficient to explain recombination-associated patterns of codon usage on the autosomes of the D. melanogaster genome. We also document a bias toward lower GC content in the pattern of small insertions and deletions (indels). In addition, the GC content of noncoding DNA in Drosophila is higher than would be predicted on the basis of the pattern of nucleotide substitutions and small indels. However, we argue that the fast turnover of noncoding sequences in Drosophila makes it difficult to assess the importance of the GC biases in nucleotide substitutions and small indels in shaping the base composition of noncoding sequences.
突变是一种潜在力量,它提供了可供进化力量作用的变异。了解突变率在基因组内如何变化以及新突变的固定概率如何变化也很重要。如果全基因组的替代过程是异质的,那么在不考虑这些潜在变异的情况下检查编码序列的进化模式可能会产生误导。在这里,我们使用转座元件DNAREP1_DM的近1500个无功能片段,首次对黑腹果蝇基因组中的替代率异质性进行了严格测试。我们的分析不仅表明异染色质和常染色质序列中的替代模式不同,而且还支持了该物种中存在与重组相关的向G和C的替代偏差。这种偏差的程度完全足以解释黑腹果蝇基因组常染色体上与重组相关的密码子使用模式。我们还记录了小插入和缺失(indels)模式中对较低GC含量的偏差。此外,果蝇中非编码DNA的GC含量高于根据核苷酸替代和小indels模式所预测的含量。然而,我们认为果蝇中非编码序列的快速周转使得难以评估核苷酸替代和小indels中的GC偏差在塑造非编码序列碱基组成方面的重要性。