Alternative splicing and genetic diversity: silencers are more frequently modified by SNVs associated with alternative exon/intron borders

Autor(es)

de Souza, Jorge E. S. ^[1] ; Ramalho, Rodrigo F. ^[2] ; Galante, Pedro A. F. ^[1] ; Meyer, Diogo ^[2] ; de Souza, Sandro J. ^[1]

Afiliação do(s) autor(es)

^[1] Hosp Alemao Oswaldo Cruz, Ludwig Inst Canc Res, BR-01509010 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Dept Genet & Biol Evolut, Inst Biociencias, BR-05508900 Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Nucleic Acids Research; v. 39, n. 12, p. 4942-4948, JUL 2011.
• Citações Web of Science: 7

Resumo

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. (AU)

• Processo FAPESP: 07/55790-5 - Splicing alternativo: integração de estratégias computacionais para a caracterização funcional de variantes identificados por mutações em sítios reguladores de splicing em tumores de cólon, mama e glioblastomas
• Beneficiário: Sandro José de Souza
• Linha de fomento: Auxílio à Pesquisa - Regular
• Processo FAPESP: 07/59721-8 - Efeitos da seleção natural em ativadores de splicing exônico (ESEs) do genoma humano
• Beneficiário: Rodrigo Fernandes Ramalho
• Linha de fomento: Bolsas no Brasil - Doutorado