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The hypothalamus-pituitary axis is involved in digest processing, stress response, energy storage and many other processes. In birds, this control differs from in mammals, such as regulation of appetite and satiety centre. The transcriptomics analyses of both brain structures can explain and identify the molecular processes related to body growth and development and nutritional status. Many reports describe chicken transcriptome in literature, but gene expression studies in the other poultry species are extremely rare. Therefore, the present research undertook the attempt to explain hypothalamus-pituitary processes in domestic geese-Polish White Kołuda®, main Polish line. After 16 weeks of fattening, significant differences in geese weight were observed. Therefore, transcriptome of pituitary and hypothalamus profiles could be compared between low and high growth rate geese groups. Due to the lack of domestic geese genome assembly in the public databases, we used three mapping approaches: de novo analysis, mapping to two other pink-footed and swan geese genomes. The functional examination showed that the most enriched biological process in the geese hypothalamus covered the immune response. Moreover, in the hypothalamus, proteins typical for the pituitary such as PRL and GH were differentially expressed (DE). Our study recommends one gene as a candidate for growth rate in geese-the FOS gene, which encodes Fos proto-oncogene-DE in both analysed tissues. The FOS gene is involved in regulating feeding behaviour, immune regulation, stimulating cellular proliferation and controlling growth hormone synthesis. Moreover, the present investigation indicates DE genes involved in gene expression regulation. The study delivers new information about the changes in the pituitary-hypothalamic axis in geese dependent on growth rate differences.

The aim of this study was to examine the impact of different dietary interventions started at middle age on the metabolic phenotype and gene expression profiling in the hypothalamus. One-year old rats were fed either a control diet, high-fat diet (HFD), HFD supplemented with resveratrol (HFD+RESV), or HFD supplemented with α-ketoglutarate (HFD+AKG). A 6-week HFD feeding led to significant changes in concentrations of plasma glucose, insulin, lipids, and thyroid hormones. Moreover, 32% of the 84 analyzed genes correlated with aging were differentially expressed compared to the control group, with the largest functional class being related to inflammatory response. Dietary RESV ameliorated the changes in plasma glucose, total cholesterol, and triiodothyronine concentrations induced by HFD feeding and significantly downregulated 60% of the surveyed genes compared to the control group, resulting in a major molecular shift compared to HFD alone. In contrast, AKG supplementation did not affect the metabolic phenotype, but prevented the gene expression pattern caused by HFD consumption, mimicking the effects observed in the control group. HFD feeding induces metabolic dysfunction and age-related genetic alterations in the hypothalamus of middle-aged rats, while dietary RESV or AKG may partially retard these effects, even though these compounds act in a different and specific manner.

In the present study, two missense variants within ATGL (rs331307082) and MYOM1 (rs326001585) genes were tested for their potential usage as genetic markers related to pig production traits. The genotyping was performed on 519 pigs representing 990 synthetic sire line. The association analysis indicated that ATGL gene affected the panel of fattening parameters (test daily gain, age at slaughter), meatiness traits (meat percentage in the carcasses; the weight of loin, ham and primary cuts, and loin eye area), and meat quality characteristics (water exudation). In turn, MYOM1 polymorphism was related to loin weight, the weight of primary cuts and weight of loin backfat. Pigs with AA genotype were characterized by significantly higher loin and primary cut weights compared to opposite homozygotes GG (PMYOM1 polymorphism did not affect pork quality traits. The results allowed us to propose the new genetic markers which may be used in pig selection to obtain appropriate meatiness and fatness level in carcasses without decreasing meat quality.

The search is still on for the molecular processes associated with the development and metabolism of skeletal muscles. Selection conducted in farm animals is focused on high muscle mass because it delivers higher economic profit. The present study aimed to shed light on mRNA degradome signals that could be characteristic for molecular processes associated with an abundance of muscle mass and to identify miRNA regulatory networks controlling these processes in pigs applying next-generation-sequencing (NGS). In the study, over 10,000 degraded transcripts were identified per sample, with the highest abundance for genes encoding mitochondrial proteins (COXs, NDs, CYTB, ATP6 and ATP8). Moreover, only 26% of the miRNA targets were found within this degraded transcript pool, which suggested for miRNAs other molecular mechanism at different level of gene expression than mRNA degradation. On the other hand, a small share of the identified degraded transcripts associated with miRNA regulation suggests a different mechanism of mRNA degradation for identified degraded transcropts. Subsequently, most of the miRNA gene degraded targets, such as ENO3, CKM, CRYAB and ADAM19 encode proteins involved in the muscle mass control. The present study showed an interesting dependence between miRNAs and their targets. Nevertheless, the complete view of the miRNA regulatory network could be a subject of further advanced research, which would employ a miRNA transfection procedure in skeletal muscle cell cultures.

Splice variants of the signaling lymphocytic activation molecule family 7 (SLAMF7) gene have been identified, and differences in the expression of this gene have been demonstrated at the mRNA level in the mammary glands of healthy and mastitis-infected dairy cows. At the same time, significant associations have been found between a deletion in the SLAM7 gene exon, the occurrence of different splice variants, and the occurrence of mastitis in one group of dairy cows. An expression study was conducted on 40 Polish Holstein-Friesian dairy cows of the Black and White variety (group I). Milk samples were taken for microbiological analysis 2 d before slaughter and examined for the presence of bacteria. Immediately after slaughter, mammary tissue samples were taken and divided into 3 groups according to the health status of the mammary gland: healthy (without pathogenic bacteria in milk), coagulase-negative staphylococci (CNS), and coagulase-positive staphylococci (CPS). Based on different SLAMF7 gene DNA fragments, 2 alternative variants of this gene (V1 and V2) and complete gene expression were identified. Separate analyses performed for each isoform showed that the health status of the cow was strongly associated with the expression level of individual variants. The highest expression was detected for the SLAMF7 complete amplicon in healthy cows, and in the CNS and CPS cows the expression of this variant was also higher than V1 and V2. Sanger sequencing was applied to detect the polymorphism/indel variant in the second exon of the SLAMF7 gene probably having the greatest effect on the protein structure and function of SLAMF7. Two genotypes were detected: AA (wild-type) and AB (insertion A). In healthy cows, the frequency of homozygotes AA was higher than the heterozygotes, whereas in the infected animals, the genotypic distribution was the opposite. An association analysis between the identified polymorphism and production traits-including somatic cell count, as well as lactose, protein, and casein content and yield as indicators of subclinical mastitis occurrence-was performed on the group II cows (166 Polish Holstein-Friesian dairy cows). Unfortunately, due to the low number of AB animals, no relationship was demonstrated between genotype in the second exon and the health status of cows. Additionally, the difference in the percentage of SLAMF7-targeted DNA methylation between the groups of animals was not significant, with an average of ∼66 to 68%.

Background Intensive selection for growth rate (GR) in broiler chickens carries negative after-effects, such as aberrations in skeletal development and the immune system, heart failure, and deterioration of meat quality. In Poland, fast-growing chicken populations are highly non-uniform in term of growth rate, which is highly unprofitable for poultry producers. Therefore, the identification of genetic markers for boiler GR that could support the selection process is needed. The hypothalamus is strongly associated with growth regulation by inducing important pituitary hormones. Therefore, the present study used this tissue to pinpoint genes involved in chicken growth control. Results The experiment included male broilers of Ross 308 strain in two developmental stages, after 3rd and 6th week of age, which were maintained in the same housing and feeding conditions. The obtained results show for the overexpression of genes related to orexigenic molecules, such as neuropeptide Y (NPY), aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), galanin (GAL), and pro-melanin concentrating hormone (PMCH) in low GR cockerels. Conclusion The results reveal strong associations between satiety centre and the growth process. The present study delivers new insights into hypothalamic regulation in broiler chickens and narrows the area for the searching of genetic markers for GR. Graphical abstract

In the present study, runs of homozygosity (ROH) detected with the use of a standard bovine 54k single nucleotide polymorphism (SNP) genotyping assay and two different ROH detection approaches, based on 50 (M1) or 15 (M2) consecutive SNPs, were compared with results of whole genome sequencing. Both microarray-based methods accurately recognised medium-sized ROH, however, it was found that M2 method seemed to better than M1 identify short ROH, but highly overestimated their number, leading to numerous false positive calls. Moreover, long ROH identified with microarray data tended to break into shorter segments in sequencing data because of the presence of regions with high heterozygosity within the ROH sequences. This may indicate, that these long ROH are formed by closely positioned shorter homozygous segments that may be of older origin or may be created by two similar but not identical haplotypes, showing minor internal recombination signs. Such finding also suggests that at least some of the results of previous studies in regard to long ROH may be biased leading to inaccurate estimations of genomes autozygosity via ROH classification into length categories.

One of the more interesting regions in the pig genome is on chromosome 15 (115,800,000-122,100,000, SSC15, Sus scrofa 11.1) that has high quantitative trait locus (QTL) density associated with fattening, slaughter and meat quality characteristics. The SSC15 region encodes over 80 genes and a few miRNA sequences where potential genetic markers can be found. The goal of the study was to evaluate the effects of SSC15 mutations associated with villin 1 (VIL1), tensin 1 (TNS1), obscurin-like 1 (OBSL1) genes and with one long non-coding RNA (lncRNA) on productive pig traits and to enrich the genetic marker pool in further selection purpose. The potential genetic markers were identified using the targeted enrichment DNA sequencing (TEDNA-seq) of chromosome 15 region. The selected mutations were genotyped by using HRM, PCR and PCRRFLP methods. The association study was performed using the general linear model (GLM) in the sas program that included over 600 pigs of 5 Polish populations. The rs332253419 VIL1 mutation shows a significant effect on intramuscular fat (IMF) content in Duroc population where AA pigs had a 16% higher level than heterozygotes. The IMF content is also affected by the OBSL1 mutation, and the differences between groups are even up to 30%, but it is strongly dependent on breed factor. The OBSL1 mutation also significantly influences the meat yellowness, backfat thickness and pH level. The performed study delivers valuable information that could be highly useful during the development of the high-throughput genotyping method for further selection purposes in pigs. The OBSL1 and VIL1 mutations seem to be the most promising DNA marker showing a high effect on IMF level.

The pig (Sus scrofa) is the most popular large farm animal in the world [...]

Small ruminant lentiviruses (SRLV) are economically important viral pathogens of sheep and goats. SRLV infection may interfere in the innate and adaptive immunity of the host, and genes associated with resistance or susceptibility to infection with SRLV have not been fully recognized. The presence of animals with relatively high and low proviral load suggests that some host factors are involved in the control of virus replication. To better understand the role of the genes involved in the host response to SRLV infection, RNA sequencing (RNA-seq) method was used to compare whole gene expression profiles in goats carrying both a high (HPL) and low (LPL) proviral load of SRLV and uninfected animals. Data enabled the identification of 1130 significant differentially expressed genes (DEGs) between control and LPL groups: 411 between control and HPL groups and 1434 DEGs between HPL and LPL groups. DEGs detected between the control group and groups with a proviral load were found to be significantly enriched in several gene ontology (GO) terms, including an integral component of membrane, extracellular region, response to growth factor, inflammatory and innate immune response, transmembrane signaling receptor activity, myeloid differentiation primary response gene 88 (MyD88)-dependent toll-like receptor signaling pathway as well as regulation of cytokine secretion. Our results also demonstrated significant deregulation of selected pathways in response to viral infection. The presence of SRLV proviral load in blood resulted in the modification of gene expression belonging to the toll-like receptor signaling pathway, the tumor necrosis factor (TNF) signaling pathway, the cytokine-cytokine receptor interaction, the phagosome, the Ras signaling pathway, the phosphatidylinositol 3-kinase (PI3K)/protein kinase B (AKT) (PI3K-Akt) signaling pathway and rheumatoid arthritis. It is worth mentioning that the most predominant in all pathways were genes represented by toll-like receptors, tubulins, growth factors as well as interferon gamma receptors. DEGs detected between LPL and HPL groups were found to have significantly enriched regulation of signaling receptor activity, the response to toxic substances, nicotinamide adenine dinucleotide (NADH) dehydrogenase complex assembly, cytokine production, vesicle, and vacuole organization. In turn, the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway tool classified DEGs that enrich molecular processes such as B and T-cell receptor signaling pathways, natural killer cell-mediated cytotoxicity, Fc gamma R-mediated phagocytosis, toll-like receptor signaling pathways, TNF, mammalian target of rapamycin (mTOR) signaling and forkhead box O (Foxo) signaling pathways, etc. Our data indicate that changes in SRLV proviral load induced altered expression of genes related to different biological processes such as immune response, inflammation, cell locomotion, and cytokine production. These findings provide significant insights into defense mechanisms against SRLV infection. Furthermore, these data can be useful to develop strategies against SRLV infection by selection of animals with reduced SRLV proviral concentration that may lead to a reduction in the spread of the virus.

Simple Summary The purpose of the study was to identify SNPs in genes encoding TLR7 and TLR8 in goats of Carpathian breed and analyze their association with the SRLVs provirus concentration. A total of 14 SNPs were detected, 6 SNPs in the TLR7 gene locus and 8 SNPs in the TLR8 gene. These SNPs were located in intron, 3′UTR and 5′UTR regions and within the coding sequences leading to the synonymous mutations. Our results revealed that 9 out 14 identified polymorphisms were associated with the SRLVs proviral concentration. This finding supports a role for genetic variations of TLR7 and TLR8 in SRLVs infection. Abstract Toll-like receptors (TLRs) 7 and 8 are important in single-stranded viral RNA recognition, so genetic variation of these genes may play a role in SRLVs infection and disease progression. Present study aimed to identify SNPs in genes encoding TLR7 and TLR8 in goats of Carpathian breed and analyze their association with the SRLVs provirus concentration as index of disease progression. A total of 14 SNPs were detected, 6 SNPs in the TLR7 gene locus and 8 SNPs in the TLR8 gene. Nine of the 14 identified polymorphisms, 4 in the TLR7 gene and 5 in TLR8 gene, were significantly associated with the SRLVs proviral concentration. These SNPs were located in 3′UTR, 5′UTR and intron sequences as well as in the coding sequences, but they led to silent changes. Homozygous genotypes of three TLR7 SNPs (synonymous variant 1:50703293, 3′UTR variant 1:50701297 and 5′UTR variant 1:50718645) were observed in goats with lower provirus copy number as well as in seronegative animals. The results obtained in this study suggest that SNPs of TLR7/TLR8 genes may induce differential innate immune response towards SRLVs affecting proviral concentration and thereby disease pathogenesis and progression. These findings support a role for genetic variations of TLR7 and TLR8 in SRLVs infection and warrants further studies on the effect of TLR7/TLR8 polymorphisms on SRLVs infection in different populations.

Background Arabian horses are commonly believed to be one of the oldest and the most popular horse breeds in the world, characterized by favourable stamina traits and exercise phenotypes. During intensive training, the rates of lactate production and utilization are critical to avoid muscle fatigue and a decrease in exercise performance. The key factor determining transmembrane lactate transport is the monocarboxylate transporter 1 protein coded for by the SLC16A1 gene. The aim of the present research was to identify polymorphisms in the coding sequence and UTRs in the equine SLC16A1 gene and to evaluate their potential association with race performance traits in Arabian horses. Based on RNA-seq data, SNPs were identified and genotyped using PCR-RFLP or PCR-HRM methods in 254 Arabian horses that competed in flat races. An association analysis between polymorphisms and racing results was performed. Results Novel polymorphisms in the equine SLC16A1 locus have been identified (missense and 5’UTR variants: g.55601543C > T and g.55589063 T > G). Analysis showed a significant association between the 5’UTR polymorphism and several racing results as follows: the possibility of winning first or second place, the number of races in which horses started and total financial benefits. The analysis also showed differences in genotype distribution depending on race distance. In the studied population, the shorter distance races were only won by TT horses. The GG and TG horses took first and second places in middle- and long-distance races, and the percentage of winning heterozygotes increased from 19.5 to 27% at the middle and long distances, respectively. The p.Val432Ile (g.55601543C > T) polymorphism was not significantly related to the analysed racing results. Conclusion Our results showed that g.55589063 T > G polymorphism affected the possibility of winning first or second place and of competing in more races. The different distribution of genotypes depending on race distance indicated the possibility of using a SNP in the SLC16A1 gene as a marker to predict the best race distance for a horse. The presented results provide a basis for further research to validate the use of the SLC16A1 gene as a potential marker associated with racing performance.

One of the most significant reason of economic loss on race track performance is lame in performed horses. Primarily, due to the failure within proper bone maintenance during conditioning in young horses. The training overload causes bone turnover disturbances in homeostasis between bone resorption and bone formation which promote the bone loss. Within our study we investigated training induced changes in transcript abundance of genes (NFATc1, CTSK, DAP12, CLEC5A, IL6ST, VAV3) involved in osteoclastogenesis hence bone resorption, in whole blood of Arabian horses. The expression pattern of all analysed genes varied depend of exercise intense activity. All training stages generate similar response to training whatever season was. The initial training had greater effect on expression pattern than increased, prolonged, established conditioning. Notwithstanding, the significant increase of transcript abundance of all investigated genes was observed during period of starts with racing competition. There is no biomarker known with highly significant accuracy according to degree of articular cartilage or bone disease in a single joint. Thus, the markers presented in our report, poses the potential to be further investigate as useful tool for bone turnover.

The ACTN3 gene codes for α-actinin-3, a protein localized in the Z-line in the skeletal muscle. Actinin-3 is critical in anchoring the myofibrillar actin filaments and plays a key role in muscle contraction. ACTN3 (α-actinin-3) cross-links glycogen phosphorylase (GP), which is the key enzyme catalysing glycogen metabolism. The aim of present study was to establish the expression level of the ACTN3 gene (for both isoforms separately and together in the gene expression analysis) in the gluteus medius muscle in order to verify if the α-actinin-3 gene can be related to training intensity in Arabian horses. A structural analysis of the ACTN3 gene was performed simultaneously to identify polymorphisms that can be related to racing performance traits. Our results showed the significant decrease (p 0.05) of ACTN3 expression in the skeletal muscle of Arabian horses during the training periods preparing for flat-racing, and this decrease differed by the intensity of the exercises. The highest mRNA abundance measured for all ACTN3 genes was detected in the muscle of untrained horses, while the lowest expression was identified at the end of the racing season when horses had fully adapted to the physical effort. This gene expression profile was confirmed for both ACTN3 isoforms. The analysis of the ACTN3 sequence allowed us to identify 14 polymorphisms, which were localized in the promoter region, the 5'UTR (7 SNPs), exons (2 SNPs) and introns (5 SNPs). Two of them, a novel c.2334CT - splice variant and the g.1104GA polymorphism in the promoter region, were proposed as the causative mutations that might affect gene expression. The presented gene expression analyses indicated the significant role of the ACTN3 gene in adaptation to physiological effort in horses. Due to previous reports and our findings, further studies should be conducted to verify the usage of the ACTN3 gene as a potential genetic marker for determining exercise performance in Arabian horses and other horse breeds.

Retained fetal membranes (RFM) is one of the most common post-partum diseases of a complex etiology. Moreover, its pathogenesis is still not elucidated. Detailed transcriptomic analysis of physiological and retained placenta may bring profound insight in the pathogenesis of the disease. The aim of the study was to compare the transcriptome of the retained and physiologically released placenta as well as biological pathways and processes in order to determine the possible pathogenesis of the disease. Samples of the endometrium and the allantochorion were taken within 2 h after parturition from control mares (n = 3) and mares with RFM (n = 3). RNA sequencing was performed with the use of all samples and mRNA expression of chosen genes was validated with Real Time PCR. Analysis of RNA-seq identified 487 differentially expressed genes in the allantochorion and 261 in the endometrium of control and RFM mares (p &lt, 0.0001). Within genes that may be important in the release of fetal membranes and were differentially expressed, our report pinpointed BGN, TIMP1, DRB, CD3E, C3, FCN3, CASP3, BCL2L1. Gene ontology analysis showed possible processes which were altered in RFM that are apoptosis, inflammatory-related processes, and extracellular matrix metabolism and might be involved in the pathogenesis of RFM. This is the first report on the transcriptome of RFM and physiologically released placenta in mares.

Summary: The aim of this study is to reveal the genetic variability and population structure of maternal lines of the Polish Konik—a native Polish horse breed of the primitive type included in the Polish conservation programme. The analysis was carried out on the basis of 17 microsatellite markers routinely used for parentage testing. The structural analysis indicated the likelihood of three genetic clusters (using the Structure and Structure Harvester software). F-statistics indicated a low level of inbreeding. All mean population coefficients were close to those obtained for representatives of male founder lines. The population seemed to be stable. However, due to a previous bottleneck event, breeding strategies should focus on avoiding inbreeding depression, preventing the decrease of genetic variability, and sustaining the active female lines. The aim of the conservation programme is to maintain the population size of endangered livestock breeds of less economic importance at a level that ensures the survival of the breed, the preservation of genetic diversity, and the preservation of as many pedigree lines as possible. The Polish Konik, a native Polish primitive-type horse breed and is one of the breeds included in such a programme in Poland. Presently, there are only 16 (of the 35 maternal lines known in 1962), some of which are endangered. We examined the genetic variability and structure of the Polish Konik maternal lines (176 individuals) on the basis of the pedigree data and 17 microsatellite markers (STRs) from parentage testing. The overall mean number of alleles was 7.647 (±0.411), the effective number of alleles was 3.935 (±0.271), the mean number of alleles for which the frequency was equal to or lower than 5% was 4.471 (±0.286), and the mean information index was 1.506 (±0.087). The structure of the population and admixture patterns were calculated with the Structure and Structure Harvester software. The structural analysis indicated three likely genetic clusters, as the most optimal K value was estimated as 3, with ∆K of 15.4188. The F-statistics results indicated a low level of inbreeding (average inbreeding coefficient FIT was 0.0188, coefficient of differentiation FST was 0.0304, and mean inbreeding index value FIS was −0.0119). Variability monitoring should be carried out in order to avoid inbreeding depression, while breeding strategies should be designed to prevent the decrease of genetic variability in the Polish horse breed and to sustain the active female lines.

The ACOX1 gene encodes peroxisomal acyl-coenzyme A oxidase 1, the first enzyme in the fatty acid &beta, oxidation pathway, which could be significant for organisms exposed to long periods of starvation and harsh living conditions. We hypothesized that variations within ACOX1, revealed by RNA Sequencing (RNA-Seq), might be based on adaptation to living conditions and had resulted from selection pressure. There were five different horse breeds used in this study, representing various utility types: Arabian, Thoroughbred, Polish Konik, draft horses, and Hucul. The single-nucleotide polymorphism (SNP) located in the ACOX1 (rs782885985) was used as a marker and was identified using the PCR restriction fragment length polymorphism method (PCR-RFLP). Results indicated extremely different genotype and allele distributions of the ACOX1 gene across breeds. A predominance of the G allele was exhibited in horses that had adapted to difficult environmental conditions, namely, Polish Konik and Huculs, which are considered to be primitive breeds. The prevalence of the T allele in Thoroughbreds indicated that ACOX1 is significant in energy metabolism during flat racing.

Physiological parturition is characterized by sterile, inflammatory-like processes. During parturition, the placenta expresses various proinflammatory mediators, such as chemokines and IL-17. Nevertheless, inflammatory processes present in the parturient mare are poorly characterized. The aim of this study was to investigate the expression of selected chemokines and IL-17 in the allantochorion and the endometrium of mares that retained fetal membranes (RFM) and expelled them physiologically. We hypothesized that the expression of these mediators may be altered in the placenta of mares with RFM and result in RFM occurrence. Differences in mRNA expression in the placenta of investigated groups of mares were detected for CCL2, CCL3, CCL4, CCL8, CXCL1, CXCL8, CXCL10, CX3CL1 and IL-17. There were no differences in mRNA expression of CCL5 and CXCL6. Gene ontology network analysis showed enrichment in genes related to leukocyte migration, cell chemotaxis and response to chemokine in tissues of RFM mares. Analysis of association network suggested denotations between CXCL6, CXCL8, CXCL1, CCL5, CCL4, CX3CL1 and CXCL10. Moreover, possible inhibition of CXCL10 by IL-17A and prostaglandin peroxide synthase 2 (PTGS2) by CXCL1 was detected. Our results suggest that, based on differences in chemokines and IL-17 expression, recruited subsets of leukocytes might differ between the analyzed groups of mares, which in turn may impair the separation of fetal membranes in the group of RFM mares. In addition, the results of the expression analysis suggest that macrophages might be one of the most abundant cells infiltrating the equine placenta during the expulsion of fetal membranes. Furthermore, we suspect that the synthesis of PTGS2 might be inhibited in mares with RFM.

Fat deposition and growth rate are closely related to pork quality and fattening efficiency. The next-generation sequencing (NGS) approach for transcriptome and miRNAome massive parallel sequencing of adipocyte tissue was applied to search for a molecular network related to fat deposition in pigs. Pigs were represented by three breeds (Large White, Pietrain, and Hampshire) that varied in fat content within each breed. The obtained results allowed for the detection of significant enrichment of Gene Ontology (GO) terms and pathways associated directly and indirectly with fat deposition via regulation of fatty acid metabolism, fat cell differentiation, inflammatory response, and extracellular matrix (ECM) organization and disassembly. Moreover, the results showed that adipocyte tissue content strongly affected the expression of leptin and other genes related to a response to excessive feed intake. The findings indicated that modification of genes and miRNAs involved in ECM rearrangements can be essential during fat tissue growth and development in pigs. The identified molecular network within genes and miRNAs that were deregulated depending on the subcutaneous fat level are proposed as candidate factors determining adipogenesis, fatness, and selected fattening characteristics in pigs.

Simple Summary The current studies profiled the expression of five equine sarcoid cell genes related to cell mobility and invasion (cell cycle control binding protein alpha, coronin 1b, metalloproteinase 2, tissue inhibitor of metalloproteinases 3 and vimentin) and compared the expression of these genes in healthy skin fibroblasts. Cells were collected from healthy and sarcoid-affected skin biopsies obtained by a qualified veterinarian. Gene expression patterns were investigated under two different conditions of cell culture, with high and low availability of nutritional components in the culture medium. The results showed significant differences in the expression of the two analyzed genes (coronin 1b and vimentin) depending on culture conditions. The obtained results emphasize the complexity of the genomic background of sarcoids and indicate the importance of further research on genes related to the physiological changes that occur in sarcoids. Abstract Sarcoids are the most common skin neoplasm in the Equidae family. Sarcoids are benign, but may cause severe damage in affected animals. Due to the high risk of post-treatment recurrence and the lack of an effective method of treatment, it is reasonable to perform studies on the molecular aspects of this neoplasm. Therefore, the present studies analyzed five genes (cell cycle control binding protein alpha, coronin 1b, metalloproteinase 2, tissue inhibitor of metalloproteinases 3 and vimentin) related to cell mobility and invasion traits. Primary healthy fibroblasts and sarcoid cells were obtained from skin biopsies. Cell lines were cultured in two different medium types with different concentrations of foetal bovine serum (10% and 0.5% FBS) to study its influence on the analyzed genes. Gene expression was measured using the real-time PCR method. The results showed significant differences in two genes (coronin and vimentin) depending on culture conditions. In conclusion, the results enabled finding two new genes, related to cell motility and invasion traits, in which gene expression is deregulated. Results of the study may put new knowledge into the complexity of the genetic background of this disease and show the importance of further analysis on this subject.

Olkuska is a highly prolific sheep breed in Poland. Thanks to earlier identification of the genetic basis of its prolificacy, a mutation in the BMP-15 gene, we can use molecular biology tools to identify this causative mutation affecting prolificacy. In our research, we used the High-Resolution Melting (HRM) and Sanger sequencing methods to identify the genotypes of the studied animals. The result obtained by the HRM method is identical to those obtained by the sequencing method, which confirms the effectiveness of the HRM method and the possibility of quick and cheap identification of individuals with a FecXO mutation.

Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date only been reported in warmblood breeds but the WFFS allele has been also detected in the Thoroughbred. To investigate the breed distribution of the WFFS allele, 4081 horses belonging to 38 different breeds were screened. In total, 4.9% of the horses representing 21 breeds carried the WFFS allele. The affected breeds were mainly warmbloods, with carrier frequency as high as 17% in the Hanoverian and Danish Warmblood. The WFFS allele was not detected in most non-warmblood breeds. Exceptions include WFFS carriers in the Thoroughbred (17/716), Haflinger (2/48), American Sport Pony (1/12), and Knabstrupper (3/46). The origin of the WFFS allele remains unknown. The Arabian breed and specifically the stallion Bairactar Or. Ar. (1813), whose offspring were reported to have a similar phenotype in the 19th century, were hypothesized as the origin. DNA from a museum sample of Bairactar Or. Ar. showed that he did not carry the mutated allele. This result, together with the genotypes of 302 Arabians, all homozygous for the reference allele, does not support an Arabian origin of the WFFS allele. Our extensive survey shows the WFFS allele to be of moderate frequency and concern in warmbloods and also in breeds where it may not be expected.

Background Polymorphism of major histocompatibility complex (MHC) genes ensures effective immune responses against a wide array of pathogens. However, artificial selection, as performed in the case of domestic animals, may influence MHC diversity. Here, we investigate and compare the MHC diversity of three populations of horses, for which different breeding policies were applied, to evaluate the impact of artificial selection and the environment on MHC polymorphism. Methods Samples of DNA were taken from 100 Polish draft horses, 38 stabled Konik Polski horses and 32 semiferal Konik Polski horses. MHC alleles and haplotype diversity within and between these populations of horses was estimated from 11 MHC microsatellite loci. Results MHC diversity measured based on allelic richness, observed heterozygosity, expected heterozygosity and polymorphism content was similar across the MHC microsatellite loci in all three populations. The highest expected heterozygosity was detected in semiferal primitive horses (He = 0.74), while the lowest was calculated for draft horses (He = 0.65). In total, 203 haplotypes were determined (111 in Polish draft horses, 43 in semiferal Konik Polski horses and 49 in stabled Konik Polski horses), and four haplotypes were shared between the two populations of Koniks. None of these haplotypes were present in any of the previously investigated horse breeds. Intra-MHC recombination events were detected in all three populations. However, the population of semiferal Konik horses showed the highest recombination frequency among the three horse populations. In addition, three recombination events were detected. Conclusions These results showed that despite the different breeding policies, the MHC allele and haplotype diversity was similarly high in all three horse populations. Nevertheless, the proportion of new haplotypes in the offspring was the highest in semiferal Konik Polski horses, which indicates the influence of the environment on MHC diversity in horses. Thus, we speculate that the genetic makeup of the domestic horse MHC might be more strongly influenced by the environment than by artificial selection. Moreover, intra-MHC conversion, insertion, and deletion and intra-MHC recombination may be proposed as mechanisms underlying the generation of new MHC haplotypes in horses.

In recent years, pig producers have struggled with the problem of low intramuscular fat levels in pork, which impacts palatability and ultimately meat quality. Reduced levels of intramuscular fat are likely the result of breeding objectives aimed at increasing lean meat content. In this study, three mutations within candidate genes for fat content (SCD, ACACA, and FASN) were selected, based on RNA-seq results and the relationship between polymorphisms in genes related to lipid metabolism, fattening and slaughter characteristics, as well as pork quality, including IMF level, were evaluated to identify selection markers. Moreover, their impact on gene expression was also examined. The PCR&ndash, RFLP (polymerase cha- in reaction &ndash, restriction fragments length) method was used to establish genotypes and effect sizes of potential genetic markers were estimated using a GLM model. It was identified that a FASN missense variant was positively associated with the expression level of this gene, which suggested its linkage with a mutation having a regulatory function. The association study indicated that the FASN missense variant may play a role in the determination of feed conversion and meat colour. In turn, a mutation in the ACACA gene showed a relationship with IMF content in the Puławska breed where the differences reached as much as 20%. We suggest considering all three mutations in further studies based on different pig populations due to the crucial role of SCD, ACACA, and FASN genes in lipid metabolism.

The impact of exercises on young developing organisms is still of interest to researchers. Similarly like Thoroughbreds, Arabian horses competing at the race track. The high percent of lameness and loss of days in training are often the result of weakness in the condition of the musculoskeletal system. The objective of the presented study was to identify by RNA-Seq method, the possible skeletal system originating transcriptomic profile in peripheral blood of Arabian horses undergoing race training. Obtained results showed that one of the most significantly deregulated pathway involved in bone homeostasis was those involved in osteoclast differentiation. Among the significantly expressed molecules, we recognized twelve genes potentially involved in the metabolism of the skeletal system: BGLAP, CTSK, TYROBP, PDLIM7, SLC9B2, TWSG1, NOTCH2, IL6ST, VAV3, NFATc1, CLEC5A, TXLNG. The panel of identified genes should be evaluated as candidate biomarkers for bone homeostasis indicators of Arabians performing on race tracks to assess bone remodelling states during training for race track competitions.

Background Identification of selection signatures can provide a direct insight into the mechanism of artificial selection and allow further disclosure of the candidate genes related to the animals’ phenotypic variation. Domestication and subsequent long-time selection have resulted in extensive phenotypic changes in domestic pigs, involving a number of traits, like behavior, body composition, disease resistance, reproduction and coat color. In this study, based on genotypes obtained from PorcineSNP60 Illumina assay we attempt to detect both diversifying and within-breed selection signatures in 530 pigs belonging to four breeds: Polish Landrace, Puławska, Złotnicka White and Złotnicka Spotted, of which the last three are a subject of conservative breeding and substantially represent the native populations. Results A two largely complementary statistical methods were used for signatures detection, including: pairwise FST and relative extended haplotype homozygosity (REHH) test. Breed-specific diversifying selection signals included several genes involved in processes connected with fertility, growth and metabolism which are potentially responsible for different phenotypes of the studied breeds. The diversifying selection signals also comprised PPARD gene that was previously found to have a large effect on the shape of the external ear in pigs or two genes encoding neuropeptide Y receptors (Y2 and Y5) involved in fat deposition and stress response which are important features differentiating the studied breeds. REHH statistics allowed detecting several within-breed selection signatures overlapping with genes connected with a range of functions including, among others: metabolic pathways, immune system response or implantation and development of the embryo. Conclusions The study provides many potential candidate genes with implication for traits selected in the individual breeds and gives strong basis for further studies aiming at identification of sources of variation among the studied pig breeds. Electronic supplementary material The online version of this article (10.1186/s12863-018-0681-0) contains supplementary material, which is available to authorized users.

For many years, research has been undertaken to identify genetic markers associated with reproductive traits in pigs, but these issues are still open to research. WNT7A expression was found in endometrium during embryo implantation as well as in early pregnancy in humans and in different species of animals. Our study was designed to identify polymorphic changes in the WNT7A gene and their effect on reproductive traits in 480 Polish Large White (PLW ) and Polish Landrace (PL) pigs in 4 successive litters. As a result, 3 mutations were identified: two transitions in exon 3 g.6270G>A (rs326274214) and in intron 4 g.36251G>A (rs321204163) and deletion/insertion in intron 4 g.36220delinsAT (rs338143418). Frequency analysis of the genotypes of these polymorphisms in the WNT7A gene showed departure from Hardy-Weinberg equilibrium for PLW at locus g.36220delinsAT and for total breeds and PLW at locus g.36251G>A. Generally, the largest litters were found in sows with AA genotypes for mutations g.6270G>A and g.36251G>A and in sows with ins/ins genotype for mutation g.3622delinsAT . However, the sows of these genotypes formed only a small percentage (from 9% to 13%) in the studied group of animals. Statistical analysis showed significant differences only for the number of piglets born and reared in parity 1 (1NBA and 1N21d) in favor of the sows with genotype AA g.6270G>A (P≤0.05) and for the number of piglets born in litter 4 (4NBA) with genotype ins/ins g.3622delinsAT (P≤0.05). The analysed mutations had no effect on the age at first farrowing and the successive farrowing intervals.

The coat colour of animals is an extremely important trait that affects their behaviour and is decisive for survival in the natural environment. In farm animal breeding, as a result of the selection of a certain coat colour type, animals are characterized by a much greater variety of coat types. This makes them an appropriate model in research in this field. A very important aspect of the coat colour types of farm animals is distinguishing between breeds and varieties based on this trait. Furthermore, for the sheep breeds which are kept for skins and wool, coat/skin colour is an important economic trait. Until now the study of coat colour inheritance in sheep proved the dominance of white colour over pigmented/black coat or skin and of black over brown. Due to the current knowledge of the molecular basis of ovine coat colour inheritance, there is no molecular test to distinguish coat colour types in sheep although some are available for other species, such as cattle, dogs, and horses. Understanding the genetic background of variation in one of the most important phenotypic traits in livestock would help to identify new genes which have a great effect on the coat colour type. Considering that coat colour variation is a crucial trait for discriminating between breeds (including sheep), it is important to broaden our knowledge of the genetic background of pigmentation. The results may be used in the future to determine the genetic pattern of a breed. Until now, identified candidate genes that have a significant impact on colour type in mammals mainly code for factors located in melanocytes. The proposed candidate genes code for the melanocortin 1 receptor (MC1R), agouti signaling protein (ASIP), tyrosinase-related protein 1 (TYRP1), microphthalmia-associated transcription factor MITF, and v-kit Hardy–Zuckerman 4 feline sarcoma viral oncogene homologue (KIT). However, there is still no conclusive evidence of established polymorphisms for specific coat colour types in sheep.

Pork is the most popular meat in the world. Unfortunately, the selection pressure focused on high meat content led to a reduction in pork quality. The present study used RNA-seq technology to identify metabolic process genes related to pork quality traits and fat deposition. Differentially expressed genes (DEGs) were identified between pigs of Pulawska and Polish Landrace breeds for two the most important muscles (semimembranosus and longissimus dorsi). A total of 71 significant DEGs were reported: 15 for longissimus dorsi and 56 for semimembranosus muscles. The genes overexpressed in Pulawska pigs were involved in lipid metabolism (APOD, LXRA, LIPE, AP2B1, ENSSSCG00000028753 and OAS2) and proteolysis (CST6, CTSD, ISG15 and UCHL1). In Polish Landrace pigs, genes playing a role in biological adhesion (KIT, VCAN, HES1, SFRP2, CDH11, SSX2IP and PCDH17), actin cytoskeletal organisation (FRMD6, LIMK1, KIF23 and CNN1) and calcium ion binding (PVALB, CIB2, PCDH17, VCAN and CDH11) were transcriptionally more active. The present study allows for better understanding of the physiological processes associated with lipid metabolism and muscle fiber organization. This information could be helpful in further research aiming to estimate the genetic markers.

In horses, multiple ovulation resulting in implantation of multiple embryos is adverse. However, understanding the mechanisms underlying initiation of multiple ovulation (MO) is advantageous and is related to an increase in efficiency of embryo transfer techniques. It has been postulated that MO may have a genetic background. Two major genes: bone morphogenetic protein 15 (BMP15) and growth and differentiation factor 9 (GDF9) are considered to play a crucial role in folliculogenesis and controlling the ovulation rate. Thus, the aim of the presented study was to identify the variation within equine BMP15 and GDF9 genes to verify their potential role on spontaneous, repetitive multiple ovulations in mares. In addition, variation screening of investigated genes in population of Thoroughbred and Arabian breeds was performed together with establishment of transcript abundance of BMP15 and GDF9 genes in equine ovarian tissue. Sanger sequencing of Arabian and Thoroughbred mares divided according to ovulation rate, revealed occurrence of 3 SNPs in BMP15 and STS in GDF9 genes. The PCR-RLFP and statistical analysis indicated that none of the genotype frequencies were significant in any breeds and none of them were claimed as functional according to ovulation rate. Furthermore, evaluation of transcript abundance by RT -PCR of both genes in ovarian tissues showed that expression of both genes was similar but GDF9 was significantly expressed in growing follicles with 21-30 mm diameter and in ovarian parenchyma, which suggest their potential role in folliculogenesis.

The highly selective breeding of Arabian horses results in inbreeding depression and genetic disorders, thereby causing significant economic loss. The Polish population of Arabians has a great impact on many breeding programmes. The aim of the current study was to monitor genetic variants involved in the most common genetic disorders of this breed. A total of 808 elite Arabian horses were screened for cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID) and lavender foal syndrome (LFS) genetic disorders by Sanger sequencing and allelic discrimination methods. The investigated population was clear of LFS. The unfavourable SCID allele was detected in three heterozygous horses (q = 0.00185). Regarding CA, the minor allele frequency was q = 0.04029. This is the first report of SCID carriers in Poland. This investigation demonstrates the value of genetic testing to support breeding decisions and to facilitate genetic disease monitoring.

Genetic disorders in horses are mostly fatal or usually cause significant economic losses for breeders and owners. Here we studied a total of 177 Arabian, Barb and Arab-Barb horses from the Middle East and North Africa (MENA) using Sanger Sequencing and PCR-ACRS (polymerase chain reaction—artificially created restriction site) approaches to examine the genetic disorders in the studied horse breeds. We identified the genetic variations related to Cerebellar Abiotrophy (CA), Severe Combined Immunodeficiency (SCID) occurrence, and the studied population was free of the mutant allele determined Lavender Foal Syndrome (LFS). Overall, presented data showed that 15 of the studied horses are carriers of two genetic disorders; the investigated horse population showed that five Arabian horses were heterozygous for the CA-associated SNP (rs397160943). The SCID-deletion TCTCA within PRKDC was detected in ten horses (nine Arabian horses and one Arab-Barb horse). This investigation shows the importance of testing these breeds for genetic disorders to avoid further spread of deleterious variants

Fatty acid composition is one of the main factors affecting health benefits of food. Stearoyl-CoA desaturase 1 (SCD), acetyl-CoA carboxylase alpha (ACACA) and lipoprotein lipase (LPL) have been considered as the rate-limiting enzymes in the biosynthesis of different fatty acids critical in lipid metabolism. The aim of our study was the analysis of differences in expression profiles of three ovine genes related to lipid metabolism (LPL, ACACA, SCD) depending on feeding system and tissue type. The gene expression measurement was performed using a real-time PCR method on 60 old-type Polish Merino Sheep, which were divided into three feeding groups (I – complete pellet mixture, n = 12; II – complete mixture with addition of fresh grass, n = 24; III – complete mixture with addition of fresh red clover, n = 24). From all lambs, tissue samples – subcutaneous fat, perirenal fat and liver – were collected immediately after slaughter and LPL, ACACA and SCD expression was estimated based on two endogenous controls (RPS2 – ribosomal protein S2; ATP5G2 – H(+)-transporting ATP synthase). Our research indicated that supplementation of diet with an addition of fresh grass or red clover significantly (P

A high meat percentage in the porcine carcass has been achieved as a result of selection, but it has contributed to a deterioration of pork quality. The level of intramuscular fat has significantly declined, the pork has lost its tenderness and drip loss in meat has substantially increased, which has led to a deterioration of meat flavour and its technological suitability. The recovery of good pork quality could be supported by the development of genetic markers enabling faster breeding progress. This study presents a method by using RNA-seq data that identifies new variants for a chromosome region rich in QTLs for pork quality and selects gene candidates for these traits. This work included two pig breeds: the Polish Landrace (PL) and Puławska (PUL), which differ in meat quality and fat content. The transcriptome profile was estimated for semimembranosus and longissimus dorsi muscles. Into variant calling analysis, transcripts of both muscles encoded by genes located in a region between microsatellites SW964 and SW906 (43-135.9 Mbp) in SSC15 were included. In total, 439 transcripts were searched, 2,800 gene variants were identified and 6 mutations with a high effect belonging to the frameshift variants were found (ENSSSCG00000015976, ENSSSCG00000027516, WRN and XIRP2). Moreover, several interesting significant missense variants in PDLIM3, PLCD4 and SARAF genes were detected. These genes are recommended as candidates for meat quality; however they require further investigation in an association study.

Mutations at gene loci associated with body lipid metabolism may affect not only carcass and meat quality traits in young animals but also the production results of mother sows. The objective of the study was to determine the effect of mutations in the DGAT1 gene, found in Polish populations of maternal breeds, on condition of gilts and later on condition and reproductive performance of sows during three reproductive cycles. The study involved 118 gilts of maternal breeds (Polish Large White (PLW ) and Polish Landrace (PL)). Gilts and subsequently sows were monitored for body weight (BW) and P2 backfat thickness over three reproductive cycles and their litters were analysed for the number and body weight of the piglets. A total of 354 litters of pigs were evaluated. In the analysed pig populations, a single mutation (A/G) in the DGAT1 gene (rs45434075) had a significant effect on deposition of subcutaneous fat only in the PLW gilts (P2G, AA,AGF r=214 P≤0.01). As regards the G/A 3’UTR polymorphism of the DGAT1 gene (rs342152658), this mutation is negatively correlated only in the PL sows with fatness during their reproductive life and with BW of the piglets reared to 21 d of age. Sows of the DGAT1GG 3’UTR genotype had significantly lower P2F backfat thickness (P≤0.05) and, during a 21-d lactation, reared lighter piglets (P≤0.01) compared to sows of the same breed with the DGAT1AG 3’UTR genotype. The analysed traits were also affected by the interaction between mutations in the DGAT1 gene of the sows of maternal breeds (DGAT1/DGAT1 3’UTR). Sows of the DGAT1GG/GG genotype were characterised by the highest backfat thickness on selection day, and during three reproductive cycles they reared significantly more piglets compared to sows of the DGAT1AA/AG genotype. Heterozygous sows (AG/AG) reared significantly heavier piglets than sows of the AA/GG and AG/GG genotypes (P≤0.05).

Peroxisomal trans-2-enoyl-CoA reductase plays a role in fatty acid elongation via the conversion of 2E-Octadecenoyl-coA to stearoyl-coA. It is encoded by the PECR gene, which is located in a QTL-rich region on chromosome 15 in pigs. Due to the function and localization of this gene, it could be supposed that it contains potential biomarkers. Therefore, in the present study regulatory sequences of the PECR gene has been analyzed. DNA was isolated from blood samples of three pig breeds: Polish Landrace (n=359), Polish Large White (n=316) and Pulawska pigs (n=140). The identification of PECR mutations was performed by High-Resolution Melting and Sanger sequencing methods, and genotyping by PCR-RFLP. The association study was performed using the GLM SAS procedure. In the second part of the experiment, the profile of PECR expression dependent on pig breed and PECR genotype was evaluated (n=10 in each analyzed group) by using qPCR method and Taqman probes. A single nucleotide substitution ENSSSCT00000030284.1: c.−145T>C in a promoter region of PECR gene was found which probably alters the binding site for transcription factors. The association study showed that PECR polymorphism affects the main carcass cuts, IMF and meat texture parameters. Pigs with a TT genotype were characterized by ↓weight of ham, ↑weight of loin, ↓IMF, ↑backfat thickness, ↓loin and ↑ham texture parameters (P C PECR genotype (P

Background Arabian horses are believed to be one of the oldest and most influential horse breeds in the world. Blood is the main tissue involved in maintaining body homeostasis, and it is considered a marker of the processes taking place in the other tissues. Thus, the aim of our study was to identify the genetic basis of changes occurring in the blood of Arabian horses subjected to a training regimen and to compare the global gene expression profiles between different training periods (T1: after a slow canter phase that is considered a conditioning phase, T2: after an intense gallop phase, and T3: at the end of the racing season) and between trained and untrained horses (T0). RNA sequencing was performed on 37 samples with a 75-bp single-end run on a HiScanSQ platform (Illumina), and differentially expressed genes (DEGs) were identified based on DESeq2 (v1.11.25) software. Results An increase in the number of DEGs between subsequent training periods was observed, and the highest amount of DEGs (440) was detected between untrained horses (T0) and horses at the end of the racing season (T3). The comparisons of the T2 vs. T3 transcriptomes and the T0 vs. T3 transcriptomes showed a significant gain of up-regulated genes during long-term exercise (up-regulation of 266 and 389 DEGs in the T3 period compared to T2 and T0, respectively). Forty differentially expressed genes were detected between the T1 and T2 periods, and 296 between T2 and T3. Functional annotation showed that the most abundant genes up-regulated in exercise were involved in pathways regulating cell cycle (PI3K-Akt signalling pathway), cell communication (cAMP-dependent pathway), proliferation, differentiation and apoptosis, as well as immunity processes (Jak-STAT signalling pathway). Conclusions We investigated whether training causes permanent transcriptome changes in horse blood as a reflection of adaptation to conditioning and the maintenance of fitness to compete in flat races. The present study identified the overrepresented molecular pathways and genes that are essential for maintaining body homeostasis during long-term exercise in Arabian horses. Selected DEGs should be further investigated as markers that are potentially associated with racing performance in Arabian horses. Electronic supplementary material The online version of this article (doi:10.1186/s12863-017-0499-1) contains supplementary material, which is available to authorized users.

In pig, the histological profile of muscle tissue, especially the proportion of individual fiber types, is one of the main factors affecting meat quality properties. In the present research, RNA sequencing (RNA-seq) by using next generation sequencing method was applied to estimate the whole gene expression profile of Longissimus lumborum muscle of pigs (Large White breed) differing in the percentage of two fiber types (slow-twitch (type I) fibers and fast-twitch glycolytic (type IIB) fibers). The RNA-seq approach allowed us to identify 355 differentially expressed genes (DEGs) indicated as significant (false discovery rate-adjusted P

Simple Summary Runs of homozygosity (ROH) regions are known to be common in the genomes of cattle and have become a subject of interest of various research in recent years. ROH can be used as a valuable tool to estimate inbreeding, which needs to be controlled in livestock populations. Moreover, analysis of ROH is considered to be an effective method of identifying genome regions that are a subject of selection pressure, which may help in understanding the genetic aspects of production traits under selection. In this study, we analyzed ROH characteristics of 11 cattle breeds, both commercial and native, maintained in Poland. We presented distinct differences in the length, quantity and frequency of ROH between the analyzed breeds as well as in the levels of genomic inbreeding. Higher levels of inbreeding were characteristic for commercial breeds, especially beef breeds. In addition, within ROH islands, we observed a number of genes with a confirmed influence on the level of production traits. The presented results and identified genes can be a basis for further research focused on the identification of genes and markers essential in the determination of the most important production traits in cattle. Abstract In the presented research, BovineSNP50 microarrays (Illumina) were applied to determine runs of homozygosity in the genomes of 11 cattle breeds maintained in Poland. These cattle breeds represent three basic utility types: milk, meat and dual purpose. Analysis of runs of homozygosity allowed the evaluation of the level of autozygosity within each breed in order to calculate the genomic inbreeding coefficient (FROH), as well as to identify regions of the genome with a high frequency of ROH occurrence, which may reflect traces of directional selectin left in their genomes. Visible differences in the length and distribution of runs of homozygosity in the genomes of the analyzed cattle breeds have been observed. The highest mean number and mean sums of lengths of runs of homozygosity were characteristic for Hereford cattle and intermediate for the Holstein-Friesian Black-and-White variety, Holstein-Friesian Red-and-White variety, Simmental, Limousin, Montbeliarde and Charolais breeds. However, lower values were observed for cattle of conserved breeds. Moreover, the selected livestock differed in the level of inbreeding estimated using the FROH coefficient. In regions of the genome with a high frequency of ROH occurrence, which may reflect the impact of directional selection, a number of genes were observed that can be potentially related to the production traits which are under selection pressure for specific production types. The most important detected genes were GHR, MSTN, DGAT1, FABP4, and TRH, with a known influence on the milk and meat traits of the studied cattle breeds.

Arabian horses are commonly believed to be one of the oldest and most influential horse breeds in the world. The high financial benefits obtained from races tend to search for genetic markers strongly correlated with the results achieved. To date, the modern approaches such as transcriptome, miRNAome, and metabolome analyses have been used to investigate the genetic background of racing performance as well as endurance capacity in Arabians. The analysis of polymorphisms at the genome level has also been applied to the detection of genetic variants associated with exercise phenotype in the Arabian breed. The presented review summarizes these findings, with a focus on the genetics underlying flat racing and endurance performance traits in different Arabian horse populations.

Over the decades, pig breeding objectives have focused on improving the meat content in the carcass without taking into consideration the more effective fattening indicators that affect feed conversion. At present, pig growth traits associated particularly with animal feeding have become crucial due to their economic significance. This is especially evident in countries where pigs are maintained on large farms. The present study indicates that pituitary differentially expressed genes (DEGs) are activated in response to variable feed conversion (FC) in pigs. The experiment included two native Polish breeds: Puławska and Złotnicka White (ZW). The whole pituitary transcriptome was sequenced using next-generation sequencing (NGS) technology. The RNA-seq method identified over 500 and 300 DEGs in the pituitaries of the ZW and the Puławska pig populations, respectively, that were associated with hormonal regulation, notch signaling, and Wnt pathways. Lower FC in the ZW pigs favoured increased fat content in the body and significantly higher prolactin expression. The obtained results indicate that low FC values in pigs are related to slower growth or increased fat content, which suggests various pituitary responses. Therefore, the identified candidate genes were not directly associated with feed conversion values but with other factors. However, the present study delivers new insights into pituitary regulation in pigs.

Numerous studies have been conducted to explain the biological functions and mechanism of ghrelin (GHRL) action in animals. However, the exact role of ghrelin in the regulation of growth and development in pigs is still unclear. The ghrelin gene is considered to be a good candidate marker for the identification of economically important traits in pig production such as feed intake, growth or carcass quality. The objectives of the present study were to investigate the regulatory regions and coding sequence of the porcine GHRL gene and determine the effect of polymorphisms at the ghrelin gene locus on selected fattening traits. Data were obtained from 346 gilts (pure breeds: Landrace, 188, Duroc, 74, Pietrain, 84). The PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) method was used to detect polymorphisms within GHRL. Three polymorphisms were found, one in the promoter region (c.-93A&gt, G) and two in the 3&rsquo, UTR sequence (g.4428T&gt, C, g.4486C&gt, T). A significant (p &le, 0.01) additive effect on daily gain (negative) and age at slaughter (positive) was obtained at the locus c.-93A&gt, G. However, the most promising mutation was at the locus g.4486C &gt, T, which is associated with total feed intake. Overall, the described GHRL polymorphisms may be useful as molecular markers in pig selection but future studies are required.

In horses, the identification of the genetic background of phenotypic variation, especially with regard to performance characteristics and predisposition to effort, has been extensively studied. As α-actinin-3 function is related to the regulation of muscle contraction and cell metabolism, the ACTN3 gene is considered one of the main genetic factors determining muscle strength. The aim of the present study was to assess the genotype distribution of two SNP variants within the equine ACTN3 gene (g.1104G > A and c.2334C > T) across different utility types and horse breeds. The analyses were performed on five breeds representing horses of different types, origins and utilities according to performance (in total 877 horses): primitive (Polish koniks; Hucul horses), draught (Polish heavy draught) and light (Thoroughbred and Arabian horses). Two polymorphisms within the ACTN3 gene locus were genotyped and genotype and allele frequency were compared across populations in order to verify if the identified differences contribute to the phenotypic variation observed in horse breeds. The present study allowed confirmation of the significant differences in genotype distribution of g.1104G > A localized in the promoter region between native breeds and racehorse breeds such as Thoroughbreds and Arabians. The allele/genotype variations between primitive and light breeds confirmed that the analysed variant was under selection pressure and can be correlated with racing ability. Moreover, the significant differences for the c.2334C > T genotype frequency between Arabian horses and other breeds indicate its relationship with endurance and athletic performance. The predominance of the T allele (85%) in Arabians suggests that the T variant was favoured during selection focused on improving stamina and could be one of the genetic factors determining endurance ability. Further research is needed to confirm the association of both polymorphisms with exact racing and/or riding results.

In recent years, the improvement of sheep production traits has met with great interest from breeders. A significant effect of the JAK2 gene encoding Janus kinase 2 on growth and reproductive parameters in different animal species has been confirmed. The aim of the present study was to identify new polymorphic sites in the ovine JAK2 gene. Three single nucleotide polymorphisms (SNPs) have been identified using the Sanger sequencing method. The first and the second variant were located in exon 6 (R1 = g.72850860 G > A; rs160146162; R2 = g.72850917A > G; rs160146160). The third SNP was located in intron 22 proximal to exon 23 (R3 = g.72895034 G > A; rs429445187). A total of 98 individuals from two breeds (Pomeranian, n = 64 and Suffolk, n = 39) were genotyped. They were kept on an organic farm located in the West Pomeranian Province. In the case of the g.72850860 G > A polymorphism, the A allele and the AA genotype were the least frequent in the Pomeranian breed. Fifteen percent of animals had the AA genotype, whereas this genotype was not detected in the Suffolk breed. The GG genotype was the most frequent in the Suffolk breed (84.85 %), while heterozygotes were predominant in the Pomeranian breed (45 %). Allele and genotype frequencies of the g.72850917A > G polymorphism were similar in both breeds, in which the AG genotype was predominant (54.5 % and 46.7 % for Suffolk and Pomeranian, respectively). Also, allele and genotype frequencies of an intronic polymorphism were similar in both breeds, in which heterozygotes were the most common (52.3 % and 65.7 % for Pomeranian and Suffolk, respectively). The results of the present study could be used for the further association analysis of selected performance traits in connection with the described polymorphisms.

Equine sarcoids are the most commonly detected skin tumours in Equidae. In the present research, a comparative transcriptomic analysis was performed which aimed at looking inside a tumour biology and identification of the expression profile as a potential source of cancer specific genes useful as biomarkers. We have used Horse Gene Expression Microarray data from matched equine sarcoids and tumour-distant skin samples. In total, 901 significantly differentially expressed genes (DEGs) between lesional and healthy skin samples have been identified (fold change ≥ 2; P

In this study, we have attempted to analyse the impact of dietary fats on the liver transcriptome in pigs. Four nutritional groups were created. The animals’ diets differed among groups in terms of the presence of corn dried distillers’ grains with solubles (DDGS) (group I - no DDGS, groups II, III, IV - 20% DDGS) as well as the type of fat (rapeseed oil - groups I and II, beef tallow - group III, coconut oil - group IV) used. Using the RNA-Seq method we identified 39 differentially expressed genes (DEGs) as a result of Cuffdiff analysis of the differences among all groups. Analysis of these genes with Panther Gene Classification System revealed that among identified DEGs, genes responsible for lipid and fatty acids metabolism are overrepresented as well as the genes engaged in oxidoreductase and catalytic activity. The article presents for the first time the RNAseq analysis of the liver transcriptome in pigs fed with different sources of fats. The results may be useful for the elaboration of new therapies for cardiovascular diseases in humans as well as for the preparation of new nutrition strategies in animals.

The aim of this study was to evaluate genetic variability of five pig populations maintained in Poland with the usage of model based clustering method (MCMC approach) on microsatellite data. A high degree of genetic diversity with the values corrected for sample sizes was observed for four breeds: 0.740 for Polish Landrace, 0.697 for Pietrain, 0.692 for Polish Large White and 0.688 for Puławska. Duroc breed, however, was characterized by the lowest genetic diversity (0.589), allelic richness and number of effective alleles. As for Structure software results, each breed was represented by their own cluster while maintaining a possible small admixture of other breeds. The results obtained suggest a moderate gene flow between breeds, especially between Polish Landrace and Polish Large White has occurred. The lowest admixture was presented for Duroc breed, which confirms its high purity. The presented results can be used to study the structure and as a genetic information for the preservation and further genetic improvement of the pig breeds maintained in Poland. It seems also advisable to conduct further studies with a larger number of microsatellites and by analysis of mitochondrial DNA.

The use of genetic markers in selection of maternal breed gilts for reduced feed intake and fatness of pigs, may impact on their reproductive performance in subsequent breeding. The objective of the study was to analyse changes, over three consecutive lactations, in condition (body weight and fatness) and reproductive performance of Polish Large White (PLW) and Polish Landrace (PL) sows of known genotype at leptin receptor ( LEPR ) and melanocortin 4 receptor ( MC4R ) loci. The study involved 58 PLW and 65 PL gilts. Gilts and subsequently sows were monitored for body weight (BW) and backfat thickness (P2) over three reproductive cycles, and their litters were analysed for the number and body weight of the piglets. A total of 168 litters of PLW pigs and 186 litters of PL pigs were evaluated. It is concluded that over the three reproductive cycles, PLW sows exhibited higher weight gains and lower fatness compared to PL sows. The interaction between LEPR and MC4R genes had a significant effect on changes in body weight of the gilts, subsequently on changes in the condition of sows (BW and P2) during consecutive reproductive cycles, and on the average weight of piglets born. Heterozygous sows of LEPR AB /MC4R AG genotype were characterized during that time by the highest weight gains and backfat thickness at P2, and their the piglets born had low birth weight. Over the three reproductive cycles, sows of LEPR AA /MC4R GG and LEPR AB /MC4R GG genotypes produced piglets with significantly higher birth weight compared to sows of LEPR AB /MC4R AG , LEPR BB /MC4R AA and LEPR BB /MC4R GG genotypes.