Polymorphisms in genomic region of PTX3 gene and their association with somatic cell score breeding value in Italian Holstein

Using a target re-sequencing approach, we identified SNPs in a region of 20kb of BTA1 containing the Pentraxin3 (PTX3) gene, a candidate gene for mastitis resistance in Holstein cattle breed. PTX3 plays a role in the regulation of innate resistance to pathogens and the consequent inflammatory reactions. PTX3 is a secreted prototype protein of the long pentraxin group synthesized by a variety of tissues and cells and in particular by innate immunity cells in response to proinflammatory signals and Toll-like receptor (TLR) engagement. A TruSeq Custom Amplicon Assay was designed to resequence the region including PTX3. Nine SNPs were identified as candidate markers for genetic resistance to mastitis in Italian Holstein. Further investigations could be useful to understand the role of intronic regions i including SNPs: in fact, some identified SNPs are localized in two non-coding segments of 600bp which could be involved in RNA splicing or in gene expression regulation.