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By analyzing over 26,000 human-mouse orthologous exons, we demonstrate that complex ASEs have lower Ka and Ka/Ks ratio and higher Ks than constitutively spliced exons (CSEs), whereas simple ASEs have evolutionary rates to the opposite of CSEs.
We also found that the proportion of non-conserved exons was higher for exons with sdSNPs than for other exons. sdSNPs are found at CE dinucleotides in addition to those at AE dinucleotides, suggesting two possibilities.
The human gene has 11 exons, four of which (5 through 8) have been highly conserved during evolution, suggesting that they are critical for p53 function [6].
In the theoretical model presented here, it is suggested that exons were created from even smaller modules that have been termed duplication units.
The presence of a deletion of the last 2 exons and a polymorphic nonsense mutation in exon 6 suggests that MOXD2 gene is inactive in humans.
There are at least five expressed polymorphisms in exons 1 and 3, plus rare expressed variants, all of which may have functional relevance.
The arrangement and size of the exons have a remarkable similarity to those of the human COMP genomic sequence, indicating a significant degree of genomic conservation.
The majority of these new exons have sequences unique in the genome, suggesting that most new exons might originate through "exonization" of intronic sequences.
Most of the new exons appear to be alternative exons that are expressed at low levels.
These exons may be of interest to studies of AS evolution.
Our findings offer a model as to how new exons may evolve during evolution.
Open accessJournal ArticleDOI
01 Oct 2007-RNA
174 Citations
Several mechanisms contribute to the creation of novel exons in metazoan genomes, including whole gene and single exon duplications, but perhaps the most intriguing are events of exonization, where intronic sequences become exons de novo.
These AS exons may contribute to considerable inter-species functional divergence.
Our results can be further applied in many research fields studying intron-exon structure and alternative/constitutive exons in functional genomic areas.

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