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最大哺乳动物基因组的进化

Evolution of the Largest Mammalian Genome.

作者信息

Evans Ben J, Upham Nathan S, Golding Goeffrey B, Ojeda Ricardo A, Ojeda Agustina A

机构信息

Biology Department, McMaster University, Hamilton, Ontario, Canada.

Field Museum of Natural History, Chicago, IL.

出版信息

Genome Biol Evol. 2017 Jun 1;9(6):1711-1724. doi: 10.1093/gbe/evx113.

Abstract

The genome of the red vizcacha rat (Rodentia, Octodontidae, Tympanoctomys barrerae) is the largest of all mammals, and about double the size of their close relative, the mountain vizcacha rat Octomys mimax, even though the lineages that gave rise to these species diverged from each other only about 5 Ma. The mechanism for this rapid genome expansion is controversial, and hypothesized to be a consequence of whole genome duplication or accumulation of repetitive elements. To test these alternative but nonexclusive hypotheses, we gathered and evaluated evidence from whole transcriptome and whole genome sequences of T. barrerae and O. mimax. We recovered support for genome expansion due to accumulation of a diverse assemblage of repetitive elements, which represent about one half and one fifth of the genomes of T. barrerae and O. mimax, respectively, but we found no strong signal of whole genome duplication. In both species, repetitive sequences were rare in transcribed regions as compared with the rest of the genome, and mostly had no close match to annotated repetitive sequences from other rodents. These findings raise new questions about the genomic dynamics of these repetitive elements, their connection to widespread chromosomal fissions that occurred in the T. barrerae ancestor, and their fitness effects-including during the evolution of hypersaline dietary tolerance in T. barrerae.

摘要

红毛山棘鼠(啮齿目,八齿鼠科,巴氏粗尾鼠)的基因组是所有哺乳动物中最大的,其近亲高山山棘鼠的基因组大小约为其两倍,尽管形成这些物种的谱系大约在500万年前才彼此分化。这种快速的基因组扩张机制存在争议,据推测是全基因组复制或重复元件积累的结果。为了检验这些相互替代但并非相互排斥的假设,我们收集并评估了巴氏粗尾鼠和高山山棘鼠的全转录组和全基因组序列证据。我们发现支持基因组扩张是由于多种重复元件积累的证据,这些重复元件分别占巴氏粗尾鼠和高山山棘鼠基因组的约二分之一和五分之一,但我们没有发现全基因组复制的强烈信号。在这两个物种中,与基因组的其他部分相比,转录区域中的重复序列很少,并且大多数与其他啮齿动物注释的重复序列没有密切匹配。这些发现引发了关于这些重复元件的基因组动态、它们与巴氏粗尾鼠祖先中广泛发生染色体裂变的联系以及它们的适应性影响(包括在巴氏粗尾鼠高盐饮食耐受性进化过程中的影响)的新问题。

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