A segmental genomic duplication generates a functional intron.

A segmental genomic duplication generates a functional intron.
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DOI:
10.1038/ncomms1461
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发表时间:
2011-08-30
影响因子:
16.6
通讯作者:
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中科院分区:
综合性期刊1区
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内含子是一种扩展的基因组特征,其功能需要多个受限制的位置-供体和受体剪接位点、分支点、多聚嘧啶段和合适的剪接增强子-其可以分布在数百或数千个核苷酸上。因此,新的内含子不太可能通过功能子元件的增量积累而出现。在这里,我们证明了一个功能性内含子可以创建从头在一个单一的步骤,通过一个片段的基因组复制。这个实验在体内重现了近5亿年前出现在有颌脊椎动物祖先谱系中的一个内含子的诞生。在脊椎动物基因组中,一个新的内含子分裂一个外显子而不破坏相应的肽序列是一个罕见的事件。Hellsten等人证明,在某些情况下,功能性内含子可以通过节段性基因组复制在单个步骤中产生。
An intron is an extended genomic feature whose function requires multiple constrained positions—donor and acceptor splice sites, a branch point, a polypyrimidine tract and suitable splicing enhancers—that may be distributed over hundreds or thousands of nucleotides. New introns are therefore unlikely to emerge by incremental accumulation of functional sub-elements. Here we demonstrate that a functional intron can be created de novo in a single step by a segmental genomic duplication. This experiment recapitulates in vivo the birth of an intron that arose in the ancestral jawed vertebrate lineage nearly half-a-billion years ago. The appearance of a new intron that splits an exon without disrupting the corresponding peptide sequence is a rare event in vertebrate genomes. Hellsten et al. demonstrate that, under certain circumstances, a functional intron can be produced in a single step by segmental genomic duplication.
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