6533b7d8fe1ef96bd126af72

RESEARCH PRODUCT

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

Marisa PalmeriBaldassare PortolanoDavide CalascibettaMariangela ScaturroValentina RiggioPaola GalluzzoGiuseppina Monteleone

subject

Untranslated regionbeta-DefensinsGenotypeMolecular Sequence DataSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoGene Frequencyb-Defensin SNPs Sheep Valle del BeliceGeneticsAnimalsCoding regionRNA MessengerMolecular BiologyDefensinGenePeptide sequenceSheep Domesticchemistry.chemical_classificationGeneticsBase SequenceComputational BiologyGeneral MedicineMolecular biologyAmino acidDairyingchemistryGenetic markerNucleic Acid Conformation

description

The aim of this work was to study β-defensin 1 (SBD1) and β-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 β-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.

yearjournalcountryeditionlanguage
2011-01-01Molecular Biology Reports
https://doi.org/10.1007/s11033-011-0694-5