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NRAMP1 (natural-resistance-associated macrophage protein) gene influences the initial phase of bacterial cellular infections, regulating macrophage activation. Recent literature on buffalo has attempted to associate the genotypes at the polymorphic microsatellite, that is located in the 3'-UTR of the gene, with either susceptibility to brucellosis or improved macrophage function. However, contradictory results were reported. In the present work, we have sequenced the whole coding region, as well as part of the introns and UTRs, of the NRAMP1 gene in 49 Mediterranean buffaloes, including both serologically positive and negative animals to Brucella abortus test. We have detected 12 mutations. Nineteen haplotypes were built from the detected variant alleles, so demonstrating the high variability of this gene in buffalo, but no significant differences in haplotype frequencies were found between serologically positive/negative animals.

Leptin is an adipocyte-derived hormone acting as a major regulator for food intake and energy homeostatis. Previous studies have focused on association between polymorphisms in the coding region of the leptin pig gene and economically important traits. This work was aimed to study the leptin (LEP) gene at the promoter region to search for polymorphisms that could led to a different gene expression regulation. In a 1213 bp 5’ UTR region we identified 15 new single nucleotide polymorphisms (SNP) and 2 deletion (del) in two pig breeds characterized by different fat content namely Casertana (CT) and Large White (LW). In order to investigate whether the polymorphism affects the transcriptional activity of the leptin promoter we evaluated the in vitro reporter-gene activity driven by two constructs harbouring different haplotype and we found a two fold difference in transcription efficiency (Pin vitro results and backfat thikness (BF) and average daily weight gain (ADG) phenotypes, in the considered breeds and we found a weak association of the different allele with backfat thickness. The polymorphisms identified in the 5’-flanking region of the LEP gene may serve as a basis for future studies even in different breeds and might provide molecular data that can be used in the selection schemes.

Production traits variability among and within breeds, differences among developmental stages or the response to different environments are in part due to genetic factors that affect gene expression. Within the context of an Italian FIRB project, whose objective is to identify genes and molecular mechanisms affecting meat quality and production traits in pig, we studied the promoter regions of candidate genes selected on the basis of their physiological role in animal tissue development or composition. Genomic DNA was isolated from liver or muscle tissue of individuals belonging to Large White and Casertana breed. PCR primers were designed to amplify 5’ upstream region of SCD (Stearoyl-CoA Desaturase), LDLR (Low Density Lipoprotein Receptor), LEP (Leptin), MSTN (Myostatin), ACTA1 (Alpha-actin) and HFABP (Heart Fatty Acid Binding Protein) genes using sequences available at NCBI. A total of 19 single nucleotide polymorphisms (SNPs) not previously described were characterised. Some haplotypes, harbou...