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Developmental defects in cattle are an interesting phenomenon, often resulting from prenatal or postnatal factors such as malnutrition or the use of harmful drugs. They can have various causes, such as endocrine disorders, genetic defects, metabolic disorders and infectious diseases. Some malformations are lethal, such as amorphus globosus, acardius acephalus and acardius acormus. Survival of a newborn depends on the type of defect and its severity. Some defects can be treated surgically, while others have no breeding significance. Polymelia, the presence of redundant limbs, is a rare defect in cattle. This study presents a report on a case of atypical polymelia in a Holstein-Friesian Red and White calf. [ABSTRACT FROM AUTHOR]

Objective: The etiology of non‐syndromic cleft lip with or without cleft palate (nsCL/P) is multifactorial, heterogeneous, and still not completely understood. The aim of the present study was to examine the associations between common and rare PAX7 nucleotide variants and the risk of this common congenital anomaly in a Polish population. Subjects and methods: Eight top nsCL/P‐associated PAX7 variants identified in our cleft genome‐wide association study (GWAS) were selected for replication analysis in an independent group of patients and controls (n = 247 and n = 445, respectively). In addition, mutation screening of the PAX7 protein‐coding region was conducted. Results: Analysis of the pooled data from the GWAS and replication study confirmed that common PAX7 nucleotide variants are significantly associated with the increased risk of nsCL/P. The strongest individual variant was rs1339062 (c.586 + 15617T > C) with a p‐value = 2.47E−05 (OR = 1.4, 95%CI: 1.20–1.64). Sequencing analysis identified a novel synonymous PAX7 substitution (c.87G > A, p.Val29Val) in a single patient with nsCLP. This transition located in the early exonic position was predicted to disrupt potential splice enhancer elements. Conclusion: Our study confirmed that PAX7 is a strong candidate gene for nsCL/P. Nucleotide variants of this gene contribute to the etiology of nsCL/P in the homogenous Polish population. [ABSTRACT FROM AUTHOR]

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 < 0.05) using three types of software: DESeq2, edgeR and baySeq. Detected genes and pathways deregulated in muscle depending on tissue microstructure were associated with: metabolic processes - 158 genes; cellular processes - 122; biological regulation - 62; localization - 51; and 35 genes with developmental processes. The DEGs were included in: PI3K-Akt; FoxO and MAPK signaling pathways, regulation of actin cytoskeleton, lysine degradation and insulin signaling pathway as well as mTOR and Hippo signaling pathways. These results highlight the mainly metabolic pathways related to glucose metabolism and contraction processes of muscle cells. Detection of genes involved in variation of fiber-type distribution will be useful in understanding of the genetic factors affecting muscle structure, metabolic process and indirectly, meat quality traits. [ABSTRACT FROM AUTHOR]

It has been found that Arabian and Thoroughbred horses differ in muscle fiber structure and thus in physiological changes occurring in muscles during exercise. The aim of the present study was to identify the global gene expression modifications that occur in skeletal muscle following a training regime to prepare for flat racing. Whole transcriptomes of muscle (gluteus medius) were compared between three time points of tissue collection: T0 (untrained horses), T1 (horses after intense gallop phase), and T2 (horses at the end of racing season), 23 samples in total. The numerous groups of exercise-regulated differentially expressed genes (DEGs) were related to muscle cell structure and signaling and included insulin-like growth factor 1 receptor (IGF1R), insulin receptor (INSR), transforming growth factor beta receptors 1 and 2 (TGFBR1, TGFBR2), vascular endothelial growth factor B (VEGFB); epidermal growth factor (EGF), hepatocyte growth factor (HGF), and vascular endothelial growth factor D (FIGF). In Arabian horses, exercise modified the expression of genes belonging to the PPAR signaling pathway (e.g., PPARA, PPARD, and PLIN2), calcium signaling pathway, and pathways associated with metabolic processes (e.g., oxidative phosphorylation, fatty acid metabolism, glycolysis/gluconeogenesis, and citrate cycle). According to detected gene expression modifications, our results suggested that in Arabian horses, exercise switches energy generation toward fatty acid utilization and enhances glycogen transport and calcium signaling. The use of the RNA-Seq approach in analyzing the skeletal muscle transcriptome allowed for the proposal of a panel of new candidate genes potentially related to body homeostasis maintenance and racing performance in Arabian horses. [ABSTRACT FROM AUTHOR]

Background The locus on chromosome 15q13.3 containing GREM1 is correlated with the risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P). The aim of the present study was to find the GREM1 functional variants implicated in the aetiology of this common developmental anomaly in the Polish population. Methods Eight polymorphisms were genotyped in 334 NSCL/P patients and 955 controls. In addition, the GREM1 protein-coding region was sequenced in 96 NSCL/P patients. Results Significant association with a risk of oral clefts was found for 5 tested polymorphisms. The lowest ptrend values were identified for rs16969681, rs16969816, and rs1258763 (ptrend 4.09E-05, 3.35E-05, and 0.0002, respectively). The putative functional variant rs16969681, located in a region that has enhancer activity, was associated with a 2.6-fold lower risk for NSCL/P (odds ratio [OR] = 0.38; 95% confidence interval [CI], 0.24-0.61, p = 2.37E-05). The previously reported association of rs1258763 with NSCL/P was replicated (OR = 0.57; 95% CI, 0.44-0.73; p = 1.10E-05). For all tested GREM1 variants, no significant sex-by-genotype interaction effects were observed. The sequencing analysis did not detect any rare variants implicated in the development of oral clefts. Conclusion Our results might suggest that variants influencing GREM1 expression levels, rather than variants affecting the function of the encoded protein, are significant factors in NSCL/P etiology. Birth Defects Research (Part A) 103:847-856, 2015. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Using the GLM procedure an association was analysed between PIT1 and GHRH SNPS and economically important traits in pigs of three breeds reared in Poland. Significant effect of GHRH/ AluI SNP was observed on several quality traits such as water-holding capacity and meat colour (A, B and L*) in Polish Large White pigs (P<0.05), with the differences between alternative homozygotes being 8.1%, and 5% (meat colour), and 16% and 3% (WHC), respectively. With respect to the PIT1 gene polymorphism, it was found that pigs carrying AA genotype presented lower values of growth traits such as feed:gain ratio, daily feed intake and number of days on test compared to BB animals (P<0.05) as well as lower pH24 in loin and ham. In turn, heterozygous pigs (AB) had the highest level of fat and the lowest values of meat traits when compared to both homozygotes. It was concluded that polymorphisms in GHRH and PIT1 genes were not directly associated with quality and carcass traits, and likely they are linked to genetic markers localized on chromosomes 17 and 13. Therefore, further investigations should aim at thorough testing of GHRH and PIT1 loci. [ABSTRACT FROM AUTHOR]

The aim of the study was to investigate associations between SLC27A1 genotypes and estimated breeding value of milk production traits (milk, fat and protein yield, kg; fat and protein content, %) in the Polish Holstein-Friesian cows' herd. Three single nucleotide polymorphisms were genotyped, the g.14996C>G. in the exon 3, g.14791C>T in exon 4 and g.14589A>G in exon 5 of SLC27A1 gene. The genotype and allele frequencies for each polymorphism and theSLC27A1 haplotype frequencies were estimated in the examined herd. Significant relations between the SLC27A1 g.14791C>T SNP and breeding value for protein content were found. The results indicate that selection for the SLC27A1-CC individuals might contribute to increased protein content of milk in Polish Holstein-Friesian cows. Further studies are needed to confirm these results. [ABSTRACT FROM AUTHOR]

Simple Summary: Identification of mutations in the myostatin gene, affecting the occurrence of the double muscling phenotype in some breeds of beef cattle, was an impetus for further analysis and identification of mutations within this gene in other animal breeds, characterized by increased meat performance parameters. The number of geese in poultry livestock production in Poland is small. The native geese breeds can be successfully used to produce high-quality poultry meat and can be a very good source of goose meat production for regional and organic products. The aim of the study was to identify a mutation in the MSTN (Myostatin) gene and investigate whether this polymorphism can affect body weight in different periods of life in Landes and Kielecka breeds. Measurements of the examined trait were taken with time intervals to demonstrate the putative effect of the identified SNP (Single Nucleotide Polymorphism) on body weight over the course of bird growth. In conclusion, the identified c.1231C>T polymorphism suggests a possible link between the polymorphism and the BW (body weight) of Kielecka geese in the 12th week of life. The most significant factors affecting the BW values in geese are breed and sex. Myostatin, also known as growth differentiation factor 8 (GDF8), belongs to the TGF- β superfamily of proteins. MSTN is a highly conserved protein that acts as a negative regulator of skeletal muscle growth. Loss of myostatin functionality causes the phenotype to appear in the form of 'double musculature', among others in cattle, sheep, and house mice. The presented results of the research were carried out on two geese breeds—Landes and Kielecka. The aim of the study was to identify mutations in the MSTN gene and study their impact on body weight in both geese breeds in different periods of life. Analysis of the obtained results showed the existence of polymorphism in exon 3 (c.1231C>T) and suggested a possible association (p < 0.05) between BW and genotype in 12 weeks of life in male Kielecka geese breed. The identified polymorphism may be one of the factors important for improving body weight in the studied Kielecka breed, therefore, it is necessary to conduct further research on a larger population of geese breeds in order to more accurately estimate the effect of the identified SNP c.1231C>T on BW in geese. [ABSTRACT FROM AUTHOR]