dorsal/arxiv
View SchemaGenetic Variability of Splicing Sites
| Authors | Dmitri Parkhomchuk |
|---|---|
| Categories | |
| ArXiv ID | q-bio/0611060 |
| URL | https://arxiv.org/abs/q-bio/0611060 |
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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"abstract": "Splicing sites provide unique statistics in human genome due to their large\nnumber and reasonably complete annotation. Analyses of the cumulative SNPs\ndistribution in splicing sites reveal a few interesting observations. While a\ndegree of the nucleotide conservation reflects on the SNPs density\nmonotonically, no detectable changes in the SNPs frequencies spectrum were\nfound. Semi-conserved nucleotide sites harbor transition mutations\npredominantly. We propose that such transition preference is caused by\nco-evolution of a site with corresponding binding agents. Since transitions in\nhumans and similarly in other organisms are almost twice as frequent as\ntransversions, this adaptation significantly lowers the mutation load.",
"arxiv_id": "q-bio/0611060",
"authors": [
"Dmitri Parkhomchuk"
],
"categories": [
"q-bio.GN"
],
"title": "Genetic Variability of Splicing Sites",
"url": "https://arxiv.org/abs/q-bio/0611060"
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