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

Giuseppina Monteleone*, Davide Calascibetta, Mariangela Scaturro, Paola Galluzzo, Marisa Palmeri, Valentina Riggio, Baldassare Portolano

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

The aim of this work was to study beta-defensin 1 (SBD1) and beta-defensin 2 (SBD2) genes in Valle del Belice dairy sheep in order to identify polymorphisms that can be utilized as markers of the analyzed genes, and search for the functional effects and roles of the identified polymorphisms (variation of the amino acid sequence of the protein and stability of mRNA molecule). The study was conducted on 300 randomly selected animals belonging to four flocks. A total of seven SNPs were identified, two in SBD1 and five in SBD2. The two SNPs identified in SBD2 coding region, at position 1659 and position 1667, were non-synonymous, leading to amino acid changes in the protein product. Nevertheless, the functional effects predicted by the two SNPs demonstrated that amino acid substitutions may not have effect on beta-defensin 2 protein function. Moreover, we demonstrated that SBD2 mutant sequence shows changes in mRNA secondary structure. These results suggest that identified SNPs could play a role in the modulation of the immune response.

Original languageEnglish
Pages (from-to)5405-5412
Number of pages8
JournalMolecular biology reports
Volume38
Issue number8
DOIs
Publication statusPublished - Nov 2011

Keywords

  • beta-Defensin
  • SNPs
  • Sheep
  • Valle del Belice
  • SOMATIC-CELL COUNT
  • MESSENGER-RNA
  • ANTIMICROBIAL PEPTIDES
  • UNTRANSLATED REGION
  • MAMMALIAN DEFENSINS
  • EPITHELIAL-CELLS
  • EXPRESSION
  • EVOLUTION
  • LOCALIZATION
  • DEFB1

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