Publications - Working papers
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Intra-genic Exon Duplications in the Human Transcriptome
Anke Busch, Peter F. Stadler
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Abstract
Background:
Tandem duplications are a major source of variance in genomic organization accounting for a large fraction of gene duplications. They also act on the smaller scale of individual exons, playing a significant role in the rapid
evolution of eukaryotic genes: about 10% of protein-coding animal genes contain duplicated exons, the vast majority of which are likely to be involved in mutually exclusive alternative splicing.
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Results:
Duplicated exons are abundant. Although most duplicated exons are full-length copies they are not necessarily placed in adjacent position, so that exon duplication is by no means restricted to tandem duplications.
The fraction of duplicated exons within genes increases with gene size, so that genes with very large numbers of exons arose from a series of intra-genic duplication events. Besides copies of a single exon, duplicated
patterns composed of two or three unrelated exons are also abundant. Exons at both the 3' and the 5' end of coding regions are duplicated less frequently than internal exons. The abundance of duplicated exons within genes correlates with transcript diversity confirming their intimate relation with alternative splicing. The largest
proteins, comprising nearly repetitive exons with large copy numbers, are typically structural proteins such as collagens or components of the extracellular matrix. In contrast, genes which have duplicated exons with low copy numbers often have functions in binding other proteins or nucleic acids.
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Conclusions:
Exon duplications form an important contribution to proteome evolution, affecting at least 1/5 of human proteins. Complex patterns of duplicated unrelated exons suggest that they arose from segmental duplications of larger junks of protein-coding regions. Their incorporation shows that proteins can frequently incorporate large duplications. The distribution of incorporated copies correlates with protein function.
Keywords
introns, tandem duplication, gene structure