Italian autochthonous turkey breeds are an important reservoir of genetic biodiversity that should be maintained with an in vivo approach. The aim of this study, part of the TuBAvI national project on biodiversity, was to use run of homozygosity (ROH), together with others statistical approaches (e.g., Wright’s F-statistics, principal component analysis, ADMIXTURE analysis), to investigate the genomic diversity in several heritage turkey breeds. We performed a genome-wide characterization of ROH-rich regions in seven autochthonous turkey breeds, i.e., Brianzolo (Brzl), Bronzato Comune Italiano (BrCI), Bronzato dei Colli Euganei (CoEu), Parma e Piacenza (PrPc), Nero d’Italia (NeIt), Ermellinato di Rovigo (ErRo) and Romagnolo (Roma). ROHs were detected based on a 650K SNP genotyping. ROH_islands were identified as homozygous ROH regions shared by at least 75% of birds (within breed). Annotation of genes was performed with DAVID. The admixture analyses revealed that six breeds are unique populations while the Roma breed consists in an admixture of founder populations. Effective population size estimated on genomic data shows a numeric contraction. ROH_islands harbour genes that may be interesting for target selection in commercial populations also. Among them the PTGS2 and PLA2G4A genes on chr10 were related to reproduction efficiency. This is the first study mapping genetic variation in autochthonous turkey populations. Breeds were genetically different among them, with the Roma breed proving to be a mixture of the other breeds. The ROH_islands identified harboured genes peculiar to the selection that occurred in heritage breeds. Finally, this study releases previously undisclosed information on existing genetic variation in the turkey species.

Bovine respiratory disease (BRD) poses a significant risk of morbidity and mortality in preweaned dairy calves. Research indicates that this multifactorial disorder can be attributed to the involvement of various pathogens. Currently, there is little information from genome-wide association studies (GWAS) for BRD resistance in young calves based on objective measures and classification of the disease. In this study, we moved forward in phenotyping BRD by coupling two diagnostic tests, the thoracic ultrasonography (TUS) and Wisconsin respiratory score (WISC), in order to assess susceptible and resistant animals to BRD. A total of 240 individuals were scored for BRD using TUS and WISC. A GWAS was performed using a selective genotyping approach to identify Quantitative Trait Loci (QTL) for BRD resistance. A total of 47 calves classified as BRD resistant (TUS ≤ 1/ WISC ≤ 4) and 47 as BRD susceptible (TUS = 5/ any WISC) were genotyped with the NEOGEN’s GGP Bovine 100K SNP chip. QTL were then identified comparing the SNPs allelic frequencies between the two groups. A total of 28 QTL regions (QTLRs) were defined according to significative SNPs, 141 genes were annotated in the defined QTLRs. The genes were functionally classified into 4 main categories, i.e., i) regulation of systemic arterial blood pressure, ii) fertility, iii) immune function, and iv) filament cytoskeleton. Furthermore, 61 out of 141 genes identified here can be considered promising candidate genes since they were already associated with BRD resistance in published GWAS studies in dairy cattle. The ASB9, BMX, EPSTI1, and OLFM4 genes were identified in 4 of the 6 considered studies. This study paves the way for further research to mine the genome for resistance to respiratory diseases, utilizing an accurate classification process.

Genome-wide association studies (GWASs) are used to identify quantitative trait loci for phenotypic traits of interest. The use of multilocus mixed models allows to correct for population stratification and account for long-range linkage disequilibrium. In this study, GWASs were conducted to identify the genetic bases of milk production (milk yield, protein and fat composition, and yield) in two autochthonous dual-purpose cattle breeds from the Aosta Valley. Using either the breeding values or the deregressed proofs, common significative single nucleotide polymorphisms have been identified for milk yield, protein percentage, and fat percentage. Two major quantitative trait loci regions have been identified on the chromosomes 5 and 14 for the fat percentage, harbouring the MGST1, CYHR1, VPS28, and CPSF1 genes. For the protein percentage, a candidate region has been identified on BTA 6; in this region, the CSN1S1, CSN2, HSTN, CSN3, and RUFY3 genes are annotated. Most of the identified genes have already been associated with milk composition in other studies on cosmopolitan and local cattle. These results show that the genes involved in milk composition quantitative traits in the Aosta cattle are common also in other cattle breeds and they can be further investigated with the use of whole genome sequencing data.

The Parma and Piacenza turkey is among the few surviving Italian native turkey breeds, representing an important genetic resource currently at risk with roughly 100 animals alive. We performed a genome-wide characterization of this population using the Axiom® Turkey Genotyping Array (634 K SNPs) and compared it with a Commercial line. After quality control, 134 individuals and 398,401 SNPs were retained for analysis. Principal component and Discriminant analyses revealed strong differentiation between the local and Commercial populations, while also detecting farm-level substructure within the Parma and Piacenza breed. Runs of homozygosity (ROH) indicated markedly higher genomic inbreeding in the local breed (mean FROH = 0.34) compared to the Commercial one (mean FROH = 0.14), reflecting both long-term drift and recent inbreeding. Genomic differentiation analysis (FST) identified multiple highly divergent regions, and penalized regression (LASSO) selected a sparse panel of 22 SNPs capable of fully discriminating between local and Commercial turkeys, providing a potential tool for breed authentication and traceability. Overlapping results from ROH, FST, and LASSO highlighted candidate genomic regions under selection in the local population, including interesting loci overlapping TRIM42 and CLSTN2 genes, which have a known function towards immunity and reproduction, respectively. These findings reveal unique genomic features of the Parma and Piacenza turkey, provide tools for conservation and traceability, and emphasize the urgent need to preserve this highly endangered heritage population.