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

Author

Marisa Palmeri, Baldassare Portolano, Davide Calascibetta, Mariangela Scaturro, Valentina Riggio, Paola Galluzzo, Giuseppina Monteleone, Monteleone,G, Calascibetta,D, Scaturro,M, Galluzzo,P, Palmeri,M, Riggio,V, and Portolano,B

Subjects
Untranslated region, beta-Defensins, Genotype, Molecular Sequence Data, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Settore AGR/17 - Zootecnica Generale E Miglioramento Genetico, Gene Frequency, b-Defensin, SNPs, Sheep Valle del Belice, Genetics, Animals, Coding region, RNA, Messenger, Molecular Biology, Defensin, Gene, Peptide sequence, Sheep, Domestic, chemistry.chemical_classification, Base Sequence, Computational Biology, General Medicine, Molecular biology, Amino acid, Dairying, chemistry, Genetic marker, Nucleic Acid Conformation
Abstract

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.

Published
2011
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