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Novel sequence variations in LAMA2 and SGCG genes modulating cis-acting regulatory elements and RNA secondary structure
Siala, Olfa; Salem, Ikhlass Hadj; Tlili, Abdelaziz; Ammar, Imen; Belguith, Hanen; Fakhfakh, Faiza.
Afiliação
  • Siala, Olfa; s.af
  • Salem, Ikhlass Hadj; s.af
  • Tlili, Abdelaziz; s.af
  • Ammar, Imen; s.af
  • Belguith, Hanen; s.af
  • Fakhfakh, Faiza; s.af
Genet. mol. biol ; Genet. mol. biol;33(1): 190-197, 2010. ilus, graf, tab
Article em En | LILACS | ID: lil-566129
Biblioteca responsável: BR1.1
ABSTRACT
In this study, we detected new sequence variations in LAMA2 and SGCG genes in 5 ethnic populations, and analysed their effect on enhancer composition and mRNA structure. PCR amplification and DNA sequencing were performed and followed by bioinformatics analyses using ESEfinder as well as MFOLD software. We found 3 novel sequence variations in the LAMA2 (c.3174+22_23insAT and c.6085 +12delA) and SGCG (c.*102A/C) genes. These variations were present in 210 tested healthy controls from Tunisian, Moroccan, Algerian, Lebanese and French populations suggesting that they represent novel polymorphisms within LAMA2 and SGCG genes sequences. ESEfinder showed that the c.*102A/C substitution created a new exon splicing enhancer in the 3'UTR of SGCG genes, whereas the c.6085 +12delA deletion was situated in the base pairing region between LAMA2 mRNA and the U1snRNA spliceosomal components. The RNA structure analyses showed that both variations modulated RNA secondary structure. Our results are suggestive of correlations between mRNA folding and the recruitment of spliceosomal components mediating splicing, including SR proteins. The contribution of common sequence variations to mRNA structural and functional diversity will contribute to a better study of gene expression.
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Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Idioma: En Revista: Genet. mol. biol Assunto da revista: GENETICA Ano de publicação: 2010 Tipo de documento: Article País de publicação: Brasil
Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Idioma: En Revista: Genet. mol. biol Assunto da revista: GENETICA Ano de publicação: 2010 Tipo de documento: Article País de publicação: Brasil