Molecular trajectories leading to the alternative fates of duplicate genes.

Molecular trajectories leading to the alternative fates of duplicate genes.
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DOI:
10.1371/journal.pone.0038958
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发表时间:
2012
期刊:
影响因子:
3.7
通讯作者:
Tanaka H
Tanaka H
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Marotta M;Piontkivska H;Tanaka H

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基因复制会产生额外的基因拷贝,其中突变可以积累而不会危及预先存在的基因的功能。这种突变会改变复制品,并有助于进化的新颖性。然而,绝大多数复制品似乎是短暂的,并在几百万年内经历复制沉默。我们对导致这些不同命运的分子机制知之甚少。在这里,我们描绘了不同的分子轨迹的一个相对较近的复制事件之间的人类和黑猩猩通过调查一个单一的重复的分子特性:DNA序列,基因表达和启动子活性。谷胱甘肽S-转移酶Theta 2(GSTT 2)基因的反向重复至少在700万年前发生在非洲类人猿的共同祖先中,并在黑猩猩(Pan troglodytes)中保留下来,而缺失多态性在人类中普遍存在。替代命运与这些物种之间的表达差异有关,并且在人类中的表达减少受到沉默突变的调节,所述沉默突变通过基因转换在重复之间传播。相比之下,选择性约束保留了黑猩猩的重复分歧。进化过程中的差异留下了独特的DNA足迹,其中死亡的复制品比保存的复制品更相似(99.4%)。这样的分子轨迹可以为现存基因组中重复生命和死亡的机制提供见解。
Gene duplication generates extra gene copies in which mutations can accumulate without risking the function of pre-existing genes. Such mutations modify duplicates and contribute to evolutionary novelties. However, the vast majority of duplicates appear to be short-lived and experience duplicate silencing within a few million years. Little is known about the molecular mechanisms leading to these alternative fates. Here we delineate differing molecular trajectories of a relatively recent duplication event between humans and chimpanzees by investigating molecular properties of a single duplicate: DNA sequences, gene expression and promoter activities. The inverted duplication of the Glutathione S-transferase Theta 2 (GSTT2) gene had occurred at least 7 million years ago in the common ancestor of African great apes and is preserved in chimpanzees (Pan troglodytes), whereas a deletion polymorphism is prevalent in humans. The alternative fates are associated with expression divergence between these species, and reduced expression in humans is regulated by silencing mutations that have been propagated between duplicates by gene conversion. In contrast, selective constraint preserved duplicate divergence in chimpanzees. The difference in evolutionary processes left a unique DNA footprint in which dying duplicates are significantly more similar to each other (99.4%) than preserved ones. Such molecular trajectories could provide insights for the mechanisms underlying duplicate life and death in extant genomes.
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