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Genetic disorders are recognised as hereditary diseases with the most significant economic impact on horse breeding, causing important foal losses, costs of treatments of horses, and maintenance of the mare during the pregnancy. The Selle Francais horses are recognized in many countries and are showing great results in equestrian sports around the world (dressage, show jumping and eventing). The study aimed to detect the presence of three mutant alleles associated with inherited diseases including Fragile Foal Syndrome (FFS), Cerebellar Abiotrophy (CA), Polysaccharide Storage Myopathy (PSSM1) and variant impacting gait type in DMRT3. This trait is important for breeding decision in Selle Francais horses and sheds new light on genetic potential and risks on this breed. The genotyping was performed on 91 Selle Francais horses using PCR-RFLP (for POLD1; GYS1 and DMRT3 genes) and PCR-ACRS (TOE1 gene) methods. The presented report indicated the presence of mutant allele A casual for PSSM1 and allele T associated with FFS syndrome occurrence, in 4% and 6% of analysed horses, respectively. Regarding CA, the present survey did not register any cases of this genetic disorder in Selle Francais horses. Our results show also that about 1% of all the Sell Francais horses studied carry the A allele of DMRT3 gene. The present findings have provided data for these fulness of monitoring genetic diseases and gait type in the investigated breed to avoid losses of offspring., Competing Interests: Declaration Competing of Interest No competing interests have been declared., (Copyright © 2022. Published by Elsevier Inc.)

Calpastatin is associated with the rate of post mortem degradation of structural proteins due to the regulation of calpain activity. In the present research, the associations between polymorphisms within 6th intron of porcine CAST gene and several meat quality traits were analyzed. The CAST gene polymorphisms affected meat colour, pH, water holding-capacity (WHC) and texture parameters (toughness, firmness, cohesiveness, chewiness, and resilience) measured in longissimus dorsi and semimembranosus muscles. The analysis performed on the most numerous breeds maintained in Poland, suggested that the most interesting polymorphisms were CAST/HpaII and CAST/RsaI, which had the greatest effect on WHC regardless of the breed analyzed and had an effect on meat pH, firmness and toughness for most breeds. Interestingly, for almost all breeds, the significant effect of both mutations on intramuscular fat content (IMF) was detected. The provided data confirmed the use of CAST gene as a genetic marker in breeding programmes which allows performing a selection focussed on improving the quality of pork., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

DLK1--(Drosophila like element 1) is a paternally expressed gene, associated with the callipyge phenotype in sheep. In a present study we designed a new real-time PCR alleleic discrimination assay for genotyping of a silent C/T mutation (c.639C>T) in DLK1 gene in swine. The DLK1 c.639C>T mutation was highly polymorphic in all breeds analyzed and C allele was predominant in Landrace and Duroc while T allele was more frequent in Pietrain and Puławska breed. Moreover, we analyzed mRNA expression of DLK1 and adjacent genes--MEG3 and PEG11 in muscles of swines of different breeds raised in Poland. We did not observe significantly different expression of DLK1, MEG3 or PEG11 mRNA in any of analyzed breeds. We also attempted to assess the effect of DLK1 (c.639C>T) on the expression of genes in callipyge locus but did not find significant differences between animals with alternate genotypes (C/C and T/T homozygotes)., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

The genes coding for H-FABP (heart acid-binding protein) and LEPR (leptin receptor) are considered to be candidates for lipid metabolism and thus affect fat deposition in pigs. The aim of our study was to assess the amount of H-FABP and LEPR transcript in the skeletal muscles (m. longissimus dorsi, m. semimembranosus) and liver of pigs of various ages. The experiments were carried out on 5 popular breeds of swine raised in Poland which exhibit different levels of fat tissue. Furthermore, we examined the effect of H-FABP and LEPR genotypes (HinfI, HpaII, and HaeIII for H-FABP and HpaII for LEPR) on the expression abundance of these genes. We confirmed a statistically significant relationship between the breed (P<.001), type of tissue (LEPR P<.001; H-FABP P<.01), and age of the animal (P<.05) on the abundance of mRNA transcript of both genes. In all breeds, the expression of the leptin receptor gene increased significantly (P<.01) with age in muscle tissue, whereas this relationship was not observed in liver tissue. However, the expression of the H-FABP gene in muscles did not change with age or breed, although in the liver expression levels were high in young (60 and 90 d) pigs. In conclusion, H-FABP and LEPR genes are strongly related to the development and function of fat tissue in pigs., (Copyright © 2011 Elsevier Inc. All rights reserved.)

The main function of adipose tissue is energy storage and production of various cytokines and hormones, such as leptin. Leptin is a protein hormone synthesized and secreted by adipose tissue. The expression of leptin is strongly dependent on growth and luteinizing hormones, which play an important role in the brain-pituitary axis. The concentration of leptin in blood plasma increases with age and obesity and is associated with the level of leptin mRNA in adipose tissue. Selection of appropriate internal control gene (ICG) for normalization of quantitative PCR data for genes of interest is critical for interpretation of results. The estimation of leptin mRNA is important in the research on regulation of feed intake and metabolic and energy balance. Therefore, the objective of this study was to evaluate the stability of mRNA expression for a number of candidate housekeeping genes in the porcine backfat tissue across different breeds. In our study we used a freeware computer program (geNorm) to evaluate the most stable among eight ICG genes (β-actin, hypoxanthine phosphoribosyltransferase 1, TATA binding protein, glyceraldehyde-3-phosphate dehydrogenase, ornithine decarboxylase antizyme 1, 60S ribosomal protein L27, 40S ribosomal protein S29, eukaryotic elongation factor (1) in 90 mRNA samples of backfat tissue. In the study we used three breeds differing in muscling: Polish Large White (n=30), Polish Landrace (n=30) and Pietrain (n=30). The results showed that the three most stable genes were ornithine decarboxylase antizyme 1 (OAZ1), 60S ribosomal protein L27 (RPL27) and β-actin (M=0.579, 0.602 and 0.607, respectively). In order to evaluate the abundance of leptin mRNA, the two most stable genes were used. The highest level of mRNA expression was obtained for PL and the lowest for Pietrain pigs. These results confirmed previous studies which showed that pigs with lean carcass were characterized by a lower level of leptin transcript compared to pigs with large fat deposit. Moreover, we analyzed relationship between C3469T Lep polymorphism and level of leptin mRNA, but did not find significant associations. Our study provides a new panel of housekeeping genes for normalization of the expression of a gene of interest in adipose tissue., (Copyright © 2010 The American Meat Science Association. Published by Elsevier Ltd. All rights reserved.)

The MyoD, Myf6 genes, which belong to the family of muscle regulatory factors (MRFs) play a major role in muscle growth and development. Therefore, they are considered as candidate genes for meat production traits in pigs. These basic helix-loop-helix (bHLH) transcription factors regulate myogenesis: they initiate the formation of muscle fibres and regulate the transcription of muscle specific genes. The paired-box transcription factor Pax7 plays critical roles during fetal development and this protein is essential for renewal and maintenance of muscle stem cells. In particular, expression of Pax7 and MyoD is correlated with presence of active satellite cells, important in hyperplastic and hypertrophic growth in skeletal muscle. The objective of the study was to investigate the level of expression of MyoD, Myf6 and Pax7 genes in porcine skeletal muscles (m. semimembranosus, m. biceps femoris, m. gracilis) in breeds differing in muscularity. Moreover, we investigated expression profile of these genes during ontogenesis in Polish Large White (PLW) and Pietrain pigs in the largest ham muscle (m.semimembranosus). Analysis of several ham muscles showed higher expression of MyoD in the Polish Landrace (PL) breed than in Pietrain and PLW pigs (m. semimembranosus P<0.001; m. biceps femoris P<0.05 and P<0.01, respectively; m. gracilisP<0.01). The level of Pax7 transcript depended on type of muscle and breed. The highest expression was in m. gracilis in Pietrain and the lowest in Polish Landrace. Our results indicate that MyoD and Pax7 genes had higher expression levels in the early stages of development in both investigated breeds. The total expression profile of MyoD and Pax7 genes suggests that higher muscularity in Pietrain pigs is associated with the presence of a greater number of active satellite stem cells compared to other breeds. The expression level of Myf6 gene does not indicate significant differences between muscles, ages and breeds., (Copyright © 2010 Elsevier B.V. All rights reserved.)

The melanocortin-4 receptor (MC4R) is involved in feed intake regulation. A missense mutation G/A in position 1426, which causes Asp-Asn substitution at position 298 in the MC4R gene has been associated with feed intake, fatness and growth, however published results of its effect are inconsistent. In our study we evaluated an effect of missense mutations on carcass composition, growth traits and meat quality in 1191 gilts of five breeds: Polish Large White, Polish Landrace, Puławska, Pietrain and Duroc. G/A 1426 MC4R mutations were genotyped using a 7500 Real-Time PCR System (Applied Biosystem). Our observations confirm that the G allele is frequent in breeds selected for lean meat content (Pietrain - 92.4%) and rare in breed with a fat carcass (Duroc - 31.5%), which has been previously reported. Our study revealed that the A allele was associated with increased daily feed intake (AA - 2.51kg; GG - 2.31kg in the Puławska breed, P<0.05), daily gain and backfat thickness (AA - 1.67cm, GG - 1.52cm in PL, P<0.01) and decreased lean meat content (total weight of ham was 0.5kg greater in G/G than in A/A Puławska animals). We obtained an unexpected result for IMF: higher percentage of IMF was observed in the G/G genotype., (Copyright 2010 Elsevier Ltd. All rights reserved.)