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Italy counts several sheep breeds, arisen over centuries as a consequence of ancient and recent genetic and demographic events. To finely reconstruct genetic structure and relationships between Italian sheep, 496 subjects from 19 breeds were typed at 50K single nucleotide polymorphism loci. A subset of foreign breeds from the Sheep HapMap dataset was also included in the analyses. Genetic distances (as visualized either in a network or in a multidimensional scaling analysis of identical by state distances) closely reflected geographic proximity between breeds, with a clear north-south gradient, likely because of high levels of past gene flow and admixture all along the peninsula. Sardinian breeds diverged more from other breeds, a probable consequence of the combined effect of ancient sporadic introgression of feral mouflon and long-lasting genetic isolation from continental sheep populations. The study allowed the detection of previously undocumented episodes of recent introgression (Delle Langhe into the endangered Altamurana breed) as well as signatures of known, or claimed, historical introgression (Merino into Sopravissana and Gentile di Puglia; Bergamasca into Fabrianese, Appenninica and, to a lesser extent, Leccese). Arguments that would question, from a genomic point of view, the current breed classification of Bergamasca and Biellese into two separate breeds are presented. Finally, a role for traditional transhumance practices in shaping the genetic makeup of Alpine sheep breeds is proposed. The study represents the first exhaustive analysis of Italian sheep diversity in an European context, and it bridges the gap in the previous HapMap panel between Western Mediterranean and Swiss breeds., (© 2013 Stichting International Foundation for Animal Genetics.)

In this study, the effect of polymorphisms in the leptin gene on the hematological variables in periparturient dairy cows was investigated. The hematological profile of 67 Holstein cows was assessed for 6 wk around calving. The DNA of the cows was genotyped at 6 polymorphic loci within the leptin gene, and 7 haplotypes were reconstructed. Significant haplotype substitution effects were found, for haplotype 1, on total white blood cell count for 2 wk around calving (+0.70 10(3)/μL, P = 0.05; +1.38 10(3)/μL, P = 0.0001); on neutrophil cell count in the first week after calving (+0.94 10(3)/μL, P = 0.001); on lymphocyte count during the 3 wk before and the first week after calving (+0.32 10(3)/μL, P = 0.05; +0.27 10(3)/μL, P = 0.03; +0.26 10(3)/μL, P = 0.04; +0.34 10(3)/μL, P = 0.01); on red blood cell count during the last week before calving and wk 1 and 2 after calving (+0.21 10(6)/μL, P = 0.02; +0.23 10(6)/μL, P = 0.01; +0.20 10(6)/μL, P = 0.03); on mean corpuscular volume (-1.35 fL, P = 0.01; -1.29 fL, P = 0.002; -1.18 fL, P = 0.004; -1.09 fL, P = 0.008; -1.23 fL, P = 0.003; -1.31 fL, P = 0.003); and on mean corpuscular hemoglobin (-0.37 pg, P = 0.05; -0.38 pg, P = 0.02; -0.39 pg, P = 0.01; -0.34 pg, P = 0.03; -0.40 pg, P = 0.01; -0.40 pg, P = 0.01) during all 6 wk analyzed. Significant haplotype substitution effects, but opposite those of haplotype-1, were found for haplotype-2 on white blood cell count (-1.10 10(3)/μL, P = 0.01; -1.30 10(3)/μL, P = 0.002; -1.09 10(3)/μL, P = 0.01) and neutrophil count (-0.82 10(3)/μL, P = 0.02; -0.95 10(3)/μL, P = 0.005; -0.92 10(3)/μL, P = 0.01). Haplotype-3 influenced red blood cell count (-0.23 10(6)/μL, P = 0.03; -0.28 10(6)/μL, P = 0.01; -0.34 10(6)/μL, P = 0.002) during the last 2 wk before and the first week after calving, and also, with effects evident only in wk 3 and 2 before calving, mean corpuscular volume (+1.38 fL, P = 0.03; +0.97 fL, P = 0.05; +1.08 fL, P = 0.05), mean corpuscular hemoglobin (+0.58 pg, P = 0.02; +0.38 pg, P = 0.04; 0.51 pg, P = 0.01), and red blood cell distribution width (-0.56% P = 0.02; -0.47%, P = 0.05). The current study provided evidence that several polymorphisms in the leptin gene play a role in the variability of hematological variables during the peripartum period, and might be used as genetic markers for improving the immunological conditions of dairy cows in critical productive periods.

The objective of this work was to characterize the complete coding region of the ovine acylCoA:diacylglycerol acyltransferase 1 (DGAT1) gene of three Italian sheep breeds: Sarda, Altamurana and Gentile di Puglia. Characterization was accomplished by direct sequencing of 8676 bp of the relevant DNA, including introns and partial 5' and 3' untranslated regions (UTRs). We detected five novel SNPs; one SNP (g.5553C>T) is located in intron 2, has similar frequencies in the three breeds and showed a negative association with milk fat content. More interesting is an SNP in the 5' UTR (g.127C>A), the occurrence of which is rare in the higher milk-fat breeds (Altamurana and Gentile di Puglia); it is located in the core sequence of Sp1, a putative binding site of transcription factors. This SNP showed a significant negative association with milk fat content in the Sarda sheep. Because DGAT1 plays a fundamental role in triacylglycerol synthesis, the novel detected SNP in the 5' UTR of the DGAT1 gene might explain, at least partially, the variation of fat content in the milk of Sarda sheep.

Three novel SNPs were identified in the locus OAR292286, encoding the DNA sequence of promoter III of the ovine acetyl-CoA carboxylase-alpha gene, in Italian sheep of four breeds: Gentile di Puglia (25 individuals) and Sopravissana (31) which are triple-purpose local endangered breeds, Comisana (25) which is a local non-selected, non-endangered dairy breed and Sarda (15) which is a popular selected high yielding dairy breed. Variant alleles are: G/T at 1330 bp, C/G at 1338 bp and C/T at 1430 bp. Frequencies of the variant alleles were calculated and chi-squared analysis of the differences in allele frequency between breed pairs was performed. Allele frequencies of the Sarda breed differ significantly from the other considered breeds.

One hundred twenty animals of three native Italian cattle breeds, Piedmontese, Maremmana, and Podolica, were genetically characterized at 21 microsatellite loci located on 13 chromosomes. Allele numbers ranged from 3 to 19; average gene diversity ranged from 0.206 to 0.878 (average 0.738). The breed that preserved the highest genetic variability was the Podolica, where the chosen markers show the highest gene diversity (0.741) and the highest heterozygosity (0.155). The lowest inbreeding rate (0.102) was registered by the Piedmontese. Genetic distances were 0.069 (Piedmontese versus Maremmana), 0.050 (Piedmontese versus Podolica), and 0.041 (Maremmana versus Podolica) and reflect the different phylogenetic origins of the breeds: Maremmana and Podolica originated from the Grey Steppe cattle group, while Piedmontese belongs to the Northern Italy Lowland cattle group. Observed heterozygosity was not significantly different from expected in any of the breeds, which is an indication that they maintain a random mating structure. The probabilistic assignment of all sampled individuals to three theoretical populations, on the basis of allele frequencies, indicated that 82% of Piedmontese, 66% of Maremmana, and 33% of Podolica can be assigned to the appropriate breed with a probability higher than 90%. This result very well reflects the impact of the selection activity on the breed genetic structure. The chosen microsatellites proved to be a good tool for describing the correct reality of the analyzed populations, but they are not sufficient to discriminate between breeds., (Copyright 2004 The American Genetic Association)