About the existence of common determinants of gene expression in the porcine liver and skeletal muscle.

BACKGROUND: The comparison of expression QTL (eQTL) maps obtained in different tissues is an essential step to understand how gene expression is genetically regulated in a context-dependent manner. In the current work, we have compared the transcriptomic and eQTL profiles of two porcine tissues (skeletal muscle and liver) which typically show highly divergent expression profiles, in 103 Duroc pigs genotyped with the Porcine SNP60 BeadChip (Illumina) and with available microarray-based measurements of hepatic and muscle mRNA levels. Since structural variation could have effects on gene expression, we have also investigated the co-localization of cis-eQTLs with copy number variant regions (CNVR) segregating in this Duroc population. RESULTS: The analysis of differential expresssion revealed the existence of 1204 and 1490 probes that were overexpressed and underexpressed in the gluteus medius muscle when compared to liver, respectively (|fold-change| > 1.5, q-value < 0.05). By performing genome scans in 103 Duroc pigs with available expression and genotypic data, we identified 76 and 28 genome-wide significant cis-eQTLs regulating gene expression in the gluteus medius muscle and liver, respectively. Twelve of these cis-eQTLs were shared by both tissues (i.e. 42.8% of the cis-eQTLs identified in the liver were replicated in the gluteus medius muscle). These results are consistent with previous studies performed in humans, where 50% of eQTLs were shared across tissues. Moreover, we have identified 41 CNVRs in a set of 350 pigs from the same Duroc population, which had been genotyped with the Porcine SNP60 BeadChip by using the PennCNV and GADA softwares, but only a small proportion of these CNVRs co-localized with the cis-eQTL signals. CONCLUSION: Despite the fact that there are considerable differences in the gene expression patterns of the porcine liver and skeletal muscle, we have identified a substantial proportion of common cis-eQTLs regulating gene expression in both tissues. Several of these cis-eQTLs influence the mRNA levels of genes with important roles in meat (CTSF) and carcass quality (TAPT1), lipid metabolism (TMEM97) and obesity (MARC2), thus evidencing the practical importance of dissecting the genetic mechanisms involved in their expression.

Joint Models to Predict Dairy Cow Survival from Sensor Data Recorded during the First Lactation.

Early predictions of cows' probability of survival to different lactations would help farmers in making successful management and breeding decisions. For this purpose, this research explored the adoption of joint models for longitudinal and survival data in the dairy field. An algorithm jointly modelled daily first-lactation sensor data (milk yield, body weight, rumination time) and survival data (i.e., time to culling) from 6 Holstein dairy farms. The algorithm was set to predict survival to the beginning of the second and third lactations (i.e., second and third calving) from sensor observations of the first 60, 150, and 240 days in milk of cows' first lactation. Using 3-time-repeated 3-fold cross-validation, the performance was evaluated in terms of Area Under the Curve and expected error of prediction. Across the different scenarios and farms, the former varied between 45% and 76%, while the latter was between 3.5% and 26%. Significant results were obtained in terms of expected error of prediction, meaning that the method provided survival probabilities in line with the observed events in the datasets (i.e., culling). Furthermore, the performances were stable among farms. These features may justify further research on the use of joint models to predict the survival of dairy cattle.

Genetic variation at the goat hormone-sensitive lipase ( LIPE) gene and its association with milk yield and composition.

Hormone-sensitive lipase (LIPE) plays a fundamental role in the regulation of energy balance by releasing free fatty acids from adipose triacylglycerol stores. These fatty acids can be subsequently transferred to other body compartments to be oxidized or employed in other biochemical reactions. This enzymic function is particularly important in lactating animals because the synthesis of milk components involves the mobilization of lipid depots to satisfy the large energy demands of the mammary gland. In the current study, we partially sequenced the goat LIPE gene in several individuals. In doing so, we identified two synonymous polymorphisms at exons 2 (c.327C>A>T, triallelic polymorphism) and 3 (c.558C>T). Moreover, we found a mis-sense polymorphism at exon 6 (c.1162G>T) that involves an alanine to serine substitution at position 388. Analysis with Polyphen and Panther softwares revealed that this amino acid replacement is expected to be neutral. Performance of an association analysis with a variety of milk traits revealed that goat LIPE genotype has highly suggestive effects on milk yield (P=0.0032) as well as on C18:3 n-6g (P=0.0051), trans-10 cis-12 CLA (P=0.007) and C12:0 (P=0.0084) milk contents. These associations are concordant with the preference of LIPE to selectively mobilize medium-chain and unsaturated fatty acids.

Mineral composition of cow milk from multibreed herds.

This study estimated the effect of Holstein-Friesian, Brown Swiss, Jersey, Simmental and Alpine Grey cattle breeds on milk mineral contents (Ca, Mg, P, K, and Na) in multibreed herds using data predicted with mid-infrared spectroscopy. The dataset included 139,821 observations from 16,566 cows and 977 herds. Fixed effects considered in the mixed model were breed, parity, stage of lactation and first-order interactions, and random effects were cow, herd-test-date, and the residual. Multiple comparisons of least squares means were performed for the main effect of breed, parity, and stage of lactation using Bonferroni adjustment. Holstein-Friesian yielded milk with the lowest fat, protein, and casein concentration, and Ca, Mg, and P contents, whereas Jersey cows produced milk with the greatest fat, protein, and casein concentration, and Ca and Mg contents. Results of this study suggest that mixing milk from different breeds could enhance milk composition and technological ability, and therefore contribute to improve dairy industry efficiency.

A high throughput genotyping approach reveals distinctive autosomal genetic signatures for European and Near Eastern wild boar.

The lack of a Near Eastern genetic signature in modern European porcine breeds indicates that, although domestic pigs from the Fertile Crescent entered Europe during the Neolithic, they were completely replaced by their European counterparts in a short window of time. Whilst the absence of such genetic signature has been convincingly demonstrated at the mitochondrial level, variation at the autosomal genomes of European and Near Eastern Sus scrofa has not been compared yet. Herewith, we have explored the genetic relationships among 43 wild boar from Europe (N = 21), Near East (N = 19) and Korea (N = 3), and 40 Iberian (N = 16), Canarian (N = 4) and Mangalitza (N = 20) pigs by using a high throughput SNP genotyping platform. After data filtering, 37,167 autosomal SNPs were used to perform population genetics analyses. A multidimensional scaling plot based on genome-wide identity-by-state pairwise distances inferred with PLINK showed that Near Eastern and European wild boar populations are genetically differentiated. Maximum likelihood trees built with TreeMix supported this conclusion i.e. an early population split between Near Eastern and European Sus scrofa was observed. Moreover, analysis of the data with Structure evidenced that the sampled Iberian, Canarian and Mangalitza pigs did not carry any autosomal signature compatible with a Near Eastern ancestry, a finding that agrees well with previous mitochondrial studies.