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六株莱茵衣藻独立株系串联重复 DNA 中的突变率和模式。

Rates and Patterns of Mutation in Tandem Repetitive DNA in Six Independent Lineages of Chlamydomonas reinhardtii.

机构信息

Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York.

出版信息

Genome Biol Evol. 2018 Jul 1;10(7):1673-1686. doi: 10.1093/gbe/evy123.

Abstract

The mutational patterns of large tandem arrays of short sequence repeats remain largely unknown, despite observations of their high levels of variation in sequence and genomic abundance within and between species. Many factors can influence the dynamics of tandem repeat evolution; however, their evolution has only been examined over a limited phylogenetic sample of taxa. Here, we use publicly available whole-genome sequencing data of 85 haploid mutation accumulation lines derived from six geographically diverse Chlamydomonas reinhardtii isolates to investigate genome-wide mutation rates and patterns in tandem repeats in this species. We find that tandem repeat composition differs among ancestral strains, both in genome-wide abundance and presence/absence of individual repeats. Estimated mutation rates (repeat copy number expansion and contraction) were high, averaging 4.3×10-4 per generation per single unit copy. Although orders of magnitude higher than other types of mutation previously reported in C. reinhardtii, these tandem repeat mutation rates were one order of magnitude lower than what has recently been found in Daphnia pulex, even after correcting for lower overall genome-wide satellite abundance in C. reinhardtii. Most high-abundance repeats were related to others by a single mutational step. Correlations of repeat copy number changes within genomes revealed clusters of closely related repeats that were strongly correlated positively or negatively, and similar patterns of correlation arose independently in two different mutation accumulation experiments. Together, these results paint a dynamic picture of tandem repeat evolution in this unicellular alga.

摘要

尽管在物种内和物种间观察到大量短序列重复串联阵列的高水平序列和基因组丰度变异,但这些重复的突变模式在很大程度上仍然未知。许多因素都可以影响串联重复进化的动态;然而,它们的进化仅在有限的分类群系统发育样本中进行了研究。在这里,我们利用来自六个地理多样化的莱茵衣藻分离株的 85 个单倍体突变积累系的公开可用的全基因组测序数据,研究了该物种中串联重复的全基因组突变率和模式。我们发现,串联重复的组成在祖先菌株之间存在差异,无论是在基因组范围内的丰度还是单个重复的存在/缺失方面。估计的突变率(重复拷贝数的扩张和收缩)很高,平均每个单一位点每代的突变率为 4.3×10-4。尽管这些串联重复突变率比以前在莱茵衣藻中报道的其他类型的突变高出几个数量级,但即使在考虑到莱茵衣藻中卫星整体丰度较低的情况下,这些突变率仍比最近在溞属中发现的突变率低一个数量级。大多数高丰度重复通过单个突变步骤与其他重复相关。基因组内重复拷贝数变化的相关性揭示了紧密相关的重复簇,它们呈正相关或负相关,并且在两个不同的突变积累实验中独立出现相似的相关性模式。这些结果共同描绘了这种单细胞藻类中串联重复进化的动态图景。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80be/6041958/a510b6db789d/evy123f1.jpg

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