Please use this identifier to cite or link to this item: https://repositorio.ufrn.br/jspui/handle/123456789/23332
Title: Testing for Natural Selection in Human Exonic Splicing Regulators Associated with Evolutionary Rate Shifts
Authors: Ramalho, Rodrigo F.
Gelfman, Sahar
Souza, Jorge E. de
Ast, Gil
Souza, Sandro J. de
Meyer, Diogo
Keywords: Alternative splicing;Human polymorphism;Exonic splicing regulators;MK test
Issue Date: 2013
Portuguese Abstract: Despite evidence that at the interspecific scale, exonic splicing silencers (ESSs) are under negative selection in constitutive exons, little is known about the effects of slightly deleterious polymorphisms on these splicing regulators. Through the application of a modified version of the McDonald–Kreitman test, we compared the normalized proportions of human polymorphisms and human/rhesus substitutions affecting exonic splicing regulators (ESRs) on sequences of constitutive and alternative exons. Our results show a depletion of substitutions and an enrichment of SNPs associated with ESS gain in constitutive exons. Moreover, we show that this evolutionary pattern is also present in a set of ESRs previously involved in the transition from constitutive to skipped exons in the mammalian lineage. The similarity between these two sets of ESRs suggests that the transition from constitutive to skipped exons in mammals is more frequently associated with the inhibition than with the promotion of splicing signals. This is in accordance with the hypothesis of a constitutive origin of exon skipping and corroborates previous findings about the antagonistic role of certain exonic splicing enhancers.
URI: https://repositorio.ufrn.br/jspui/handle/123456789/23332
ISSN: 0022-2844
Appears in Collections:ICe - Artigos publicados em periódicos

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