Bartolomé Carolina, Maside Xulio
Institute of Cell, Animal and Population Biology, University of Edinburgh, Ashworth Laboratories, Edinburgh EH9 3JT, UK.
Genet Res. 2004 Apr;83(2):91-100. doi: 10.1017/s0016672304006755.
In regions of suppressed recombination, where selection is expected to be less efficient in removing slightly deleterious mutations, transposable element (TE) insertions should be more likely to drift to higher frequencies, and even to reach fixation. In the absence of excision events, once a TE is fixed it cannot be eliminated from the population, and accumulation of elements thus should become an irreversible process. In the long term, this can drive the degeneration of large non-recombining fractions of the genomes. Chromosome 4 of Drosophila melanogaster has very low levels of recombination, if any, and this could be causing its degeneration. Here we report the results of a PCR-based analysis of the population frequencies of TE insertions in a sample from three African natural populations. We investigated 27 insertions from 12 TE families, located in regions of either suppressed or free recombination. Our results suggest that TE insertions tend to be fixed in the non-recombining regions, particularly on the fourth chromosome. We have also found that this involves all types of elements, and that fixed insertions are significantly shorter and more divergent from the canonical sequence than those segregating in the sample (28.1% vs 86.3% of the canonical length, and average nucleotide divergence (D(XY)) = 0.082 vs 0.008, respectively). Finally, DNA-based elements seem to show a greater tendency to reach fixation than retrotransposons. Implications of these findings for the population dynamics of TEs, and the evolutionary forces that shape the patterns of genetic variation in regions of reduced recombination, are discussed.
在重组受到抑制的区域,由于预期选择在清除轻微有害突变方面效率较低,转座元件(TE)插入应该更有可能随机漂变到更高频率,甚至达到固定状态。在没有切除事件的情况下,一旦一个TE固定下来,它就无法从种群中消除,因此元件的积累应该会成为一个不可逆的过程。从长远来看,这可能会导致基因组中大量非重组部分的退化。果蝇的4号染色体重组水平极低(如果有的话),这可能正在导致其退化。在这里,我们报告了基于PCR对来自三个非洲自然种群样本中TE插入的种群频率进行分析的结果。我们研究了来自12个TE家族的27个插入,这些插入位于重组受抑制或自由重组的区域。我们的结果表明,TE插入倾向于在非重组区域固定下来,尤其是在第四条染色体上。我们还发现这涉及所有类型的元件,并且与样本中分离的插入相比,固定插入显著更短,与标准序列的差异也更大(分别为标准长度的28.1%对86.3%,平均核苷酸差异(D(XY))=0.082对0.008)。最后,基于DNA的元件似乎比逆转座子表现出更大的固定倾向。本文讨论了这些发现对TE种群动态以及塑造重组减少区域遗传变异模式的进化力量的影响。