Polymorphisms of beta-defensin genes in Valle del Belice dairy sheep

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The aim of this work was to study b-defensin 1(SBD1) and b-defensin 2 (SBD2) genes in Valle del Belicedairy sheep in order to identify polymorphisms that can beutilized as markers of the analyzed genes, and search forthe functional effects and roles of the identified polymorphisms(variation of the amino acid sequence of the proteinand stability of mRNA molecule). The study was conductedon 300 randomly selected animals belonging to fourflocks. A total of seven SNPs were identified, two in SBD1and five in SBD2. The two SNPs identified in SBD2 codingregion, at position 1659 and position 1667, were nonsynonymous,leading to amino acid changes in the proteinproduct. Nevertheless, the functional effects predicted bythe two SNPs demonstrated that amino acid substitutionsmay not have effect on b-defensin 2 protein function.Moreover, we demonstrated that SBD2 mutant sequenceshows changes in mRNA secondary structure. These resultssuggest that identified SNPs could play a role in themodulation of the immune response.
Original languageEnglish
Pages (from-to)5405-5412
Number of pages8
JournalMolecular Biology Reports
Publication statusPublished - 2011

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics

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