Cáceres M, Puig M, Ruiz A
Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.
Genome Res. 2001 Aug;11(8):1353-64. doi: 10.1101/gr.174001.
Transposable elements (TEs) have been implicated in the generation of genetic rearrangements, but their potential to mediate changes in the organization and architecture of host genomes could be even greater than previously thought. Here, we describe the naturally occurring structural and nucleotide variation around two TE insertions in the genome of Drosophila buzzatii. The studied regions correspond to the breakpoints of a widespread chromosomal inversion generated by ectopic recombination between oppositely oriented copies of a TE named Galileo. A detailed molecular analysis by Southern hybridization, PCR amplification, and DNA sequencing of 7.1 kb surrounding the inversion breakpoints in 39 D. buzzatii lines revealed an unprecedented degree of restructuring, consisting of 22 insertions of ten previously undescribed TEs, 13 deletions, 1 duplication, and 1 small inversion. All of these alterations occurred exclusively in inverted chromosomes and appear to have accumulated after the insertion of the Galileo elements, within or close to them. The nucleotide variation at the studied regions is six times lower in inverted than in noninverted chromosomes, suggesting that most of the observed changes originated in only 84,000 years. Galileo elements thus seemed to promote the transformation of these, otherwise normal, chromosomal regions in genetically unstable hotspots and highly efficient traps for transposon insertions. The particular features of two new Galileo copies found indicate that this TE belongs to the Foldback family. Together, our results strengthen the importance of TEs, and especially DNA transposons, as inducers of genome plasticity in evolution.
转座元件(TEs)与基因重排的产生有关,但其介导宿主基因组组织和结构变化的潜力可能比之前认为的更大。在这里,我们描述了果蝇(Drosophila buzzatii)基因组中两个TE插入位点周围自然发生的结构和核苷酸变异。研究区域对应于由名为伽利略(Galileo)的TE的反向排列拷贝之间的异位重组产生的广泛染色体倒位的断点。通过Southern杂交、PCR扩增以及对39条果蝇品系中倒位断点周围7.1 kb区域进行DNA测序的详细分子分析,揭示了前所未有的重组程度,包括10个先前未描述的TE的22次插入、13次缺失、1次重复和1次小倒位。所有这些改变仅发生在倒位染色体中,并且似乎是在伽利略元件插入之后,在其内部或附近积累的。研究区域的核苷酸变异在倒位染色体中比在非倒位染色体中低六倍,这表明观察到的大多数变化仅在84,000年内起源。因此,伽利略元件似乎促进了这些原本正常的染色体区域在遗传不稳定热点和转座子插入的高效陷阱中的转变。发现的两个新伽利略拷贝的特殊特征表明该TE属于回文家族。总之,我们的结果强化了TEs,尤其是DNA转座子,作为进化中基因组可塑性诱导剂的重要性。