title: Alternative splicing and genetic diversity: silencers are more frequently modified by SNVs associated with alternative exon/intron borders.
abstract: With the availability of a large amount of genomic data it is expected that the influence of single nucleotide variations (SNVs) in many biological phenomena will be elucidated. Here, we approached the problem of how SNVs affect alternative splicing. First, we observed that SNVs and exonic splicing regulators (ESRs) independently show a biased distribution in alternative exons. More importantly, SNVs map more frequently in ESRs located in alternative exons than in ESRs located in constitutive exons. By looking at SNVs associated with alternative exon/intron borders (by their common presence in the same cDNA molecule), we observed that a specific type of ESR, the exonic splicing silencers (ESSs), are more frequently modified by SNVs. Our results establish a clear association between genetic diversity and alternative splicing involving ESSs.
authors.affiliation: Ludwig Institute for Cancer Research at Hospital Alemão Oswaldo Cruz, São Paulo, SP, 01509-010, Brasil.
authors.forename: Jorge E S
authors.initials: JE
authors.lastname: de Souza
authors.forename: Rodrigo F
authors.initials: RF
authors.lastname: Ramalho
authors.forename: Pedro A F
authors.initials: PA
authors.lastname: Galante
authors.forename: Diogo
authors.initials: D
authors.lastname: Meyer
authors.forename: Sandro J
authors.initials: SJ
authors.lastname: de Souza
mesh_terms: D017398:Alternative Splicing; D005091:Exons; D006801:Humans; D007438:Introns; D020641:Polymorphism, Single Nucleotide; D038621:Regulatory Sequences, Ribonucleic Acid
chemical_list: D038621:Regulatory Sequences, Ribonucleic Acid