Recurrent duplication-driven transposition of DNA during hominoid evolution
Recurrent duplication-driven transposition of DNA during hominoid evolution
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DOI：
10.1073/pnas.0605426103
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发表时间：
2006-11-21
影响因子：
11.1
通讯作者：
Eichler, Evan E.
中科院分区：
文献类型：
--
作者：
Johnson, Matthew E.;Cheng, Ze;Eichler, Evan E.
人类分节重复的散布模式进化的潜在机制尚不清楚。灵长类动物基因组的比较分析的基础上，我们表明，一个特定的节段重复（LCR 16 a）已形成的大多数染色体内重复块在人类16号染色体上的源位点。我们提供的证据表明，在进化的不同阶段，这一特定的片段在每一个类人猿和人类谱系中都是独立活跃的。LCIR 16 a整合位点侧翼的常染色质序列经常是谱系特异性重复。这一过程已经将复制块（大小为15-200 kb）移动到每个物种的新基因组位置。对谱系特异性插入的断点分析表明，在靶位点处富含重复序列的DNA的协同缺失，在某些情况下，该物种中的基因缺失。我们的数据支持一个复制模型，其中一段DNA被复制的概率取决于它与核心复制子（如LCR 16 a）的接近程度。
The underlying mechanism by which the interspersed pattern of human segmental duplications has evolved is unknown. Based on a comparative analysis of primate genomes, we show that a particular segmental duplication (LCR16a) has been the source locus for the formation of the majority of intrachromosomal duplications blocks on human chromosome 16. We provide evidence that this particular segment has been active independently in each great ape and human lineage at different points during evolution. Euchromatic sequence that flanks sites of LCIR16a integration are frequently lineage-specific duplications. This process has mobilized duplication blocks (15-200 kb in size) to new genomic locations in each species. Breakpoint analysis of lineage-specific insertions suggests coordinated deletion of repeat-rich DNA at the target site, in some cases deleting genes in that species. Our data support a model of duplication where the probability that a segment of DNA becomes duplicated is determined by its proximity to core duplicons, such as LCR16a.