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Genetic Variability of Splicing Sites

Dmitri Parkhomchuk
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Abstract

Splicing sites provide unique statistics in human genome due to their large number and reasonably complete annotation. Analyses of the cumulative SNPs distribution in splicing sites reveal a few interesting observations. While a degree of the nucleotide conservation reflects on the SNPs density monotonically, no detectable changes in the SNPs frequencies spectrum were found. Semi-conserved nucleotide sites harbor transition mutations predominantly. We propose that such transition preference is caused by co-evolution of a site with corresponding binding agents. Since transitions in humans and similarly in other organisms are almost twice as frequent as transversions, this adaptation significantly lowers the mutation load.

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Dmitri Parkhomchuk. 2006-12-19. Genetic Variability of Splicing Sites. https://arxiv.org/abs/q-bio/0611060

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