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Comprehensive splice-site analysis using comparative genomics

机译:使用比较基因组学的综合剪接位点分析

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We have collected over half a million splice sites from five species—Homo sapiens, Mus musculus, Drosophila melanogaster, Caenorhabditis elegans and Arabidopsis thaliana—and classified them into four subtypes: U2-type GT–AG and GC–AG and U12-typeGT–AG and AT–AC. We have also found new examples of rare splice-site categories, such as U12-type introns without canonical borders, and U2-dependent AT–AC introns. The splice-site sequences and several tools to explore them are available on a publicwebsite (SpliceRack). For the U12-type introns, we find several features conserved across species, as well as a clustering of these introns on genes. Using the information content of the splice-site motifs, and the phylogenetic distance between them, weidentify: (i) a higher degree of conservation in the exonic portion of the U2-type splice sites in more complex organisms; (ii) conservation of exonic nucleotides for U12-type splice sites; (iii) divergent evolution of C.elegans 3' splice sites (3'ss) and (iv) distinct evolutionary histories of 5' and 3'ss. Our study proves that the identification of broad patterns in naturally-occurring splice sites, through the analysis of genomic datasets, provides mechanistic and evolutionary insights into pre-mRNAsplicing.
机译:我们已经从五个物种(智人,小家鼠,果蝇,秀丽隐杆线虫和拟南芥)中收集了超过一百万个剪接位点,并将它们分为四个亚型:U2型GT–AG,GC–AG和U12型GT– AG和AT–AC。我们还发现了罕见的剪接位点类别的新例子,例如没有典型边界的U12型内含子和依赖U2的AT–AC内含子。可在公共网站(SpliceRack)上获得剪接位点序列和几种探索它们的工具。对于U12型内含子,我们发现了跨物种保守的几个特征,以及这些内含子在基因上的聚类。利用剪接位点基序的信息含量以及它们之间的系统发生距离,我们可以确定:(i)在更复杂的生物中,U2型剪接位点的外显子部分具有更高的保守性; (ii)为U12型剪接位点保守外显子核苷酸; (iii)秀丽隐杆线虫3'剪接位点(3's)的不同进化,以及(iv)5'和3's的独特进化史。我们的研究证明,通过对基因组数据集的分析,确定天然发生的剪接位点中的广泛模式,可以为mRNA剪接提供机理和进化方面的见识。

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