Evaluation of candidate gene effects and environmental factors on reproductive performance of Holstein cows

This study investigated the impact of nine polymorphisms located in the CSN2, CSN3, CSN1S1, CSN1S2, OLR1, LALBA, STAT1, DGAT1 and LGB genes, and environmental factors including calving year, season and parity on reproductive traits. The analysis was conducted on 165 Holstein-Friesian cows. Genotypes were identified using PCR-RFLP. The data of reproductive traits for four lactations were evaluated. Statistical analysis was carried out using least squares of the GLM procedures. Results indicated that CSN2 had significant effects on days before first insemination and first insemination to pregnancy interval. The SNP at the CSN3 was significantly associated with gestation length. A novel effect of OLR1-C223A on age at first calving was observed in the present study. Moreover, DGAT1 and LGB markers were significantly associated with calving interval and days before first insemination, respectively. In addition, significant environmental effects were as follows: calving year with days before first oestrus, days open, and first insemination to pregnancy interval; season with days open, first insemination to pregnancy interval, and calving interval; parity with days before first oestrus and days open. The present results and novel associations may therefore be useful and indicative for future studies on a genetic basis of cattle reproduction traits.Keywords: cattle, environmental effects, genetic marker, Holstein-Friesian, reproduction parameter

Relationship of the bovine IGF1, TG, DGAT1 and MYF5 genes to meat colour, tenderness and cooking loss

ΔΕΝ ΔΙΑΤΙΘΕΤΑΙ ΠΕΡΙΛΗΨΗBovine insulin-like growth factor 1 (IGF1), thyroglobulin (TG), diacylglycerol-O-acyltransferase 1 (DGAT1) and myogenic factor 5 (MYF5) genes play an important role in the physiology of lipid and muscle metabolism and are therefore considered as candidate genes for meat production traits in farm animals. The objectives of this study were to investigate single nucleotide polymorphisms (SNPs) in IGF1, TG, DGAT1 and MYF5 genes and to evaluate whether these polymorphisms affected meat colour, tenderness and cooking loss in Holstein cattle. Initially, the SNPs were detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) method. Meat samples (N= 50) derived from M. longissimus thoracis et lumborum (LTL) were used in the current study. Significant differences in variations of meat colour parameters were observed at 24 hours post-mortem. IGF1 was associated with colour parameters of a* and chroma values. In addition, effects of TG were statistically significant on L* and a* values, while, effects of MYF5 were significant on a* value. There was no association of the tested SNPs with meat pH, tenderness and cooking loss. The results presented here may give the valuable information for improving meat colour in cattle

Comprehensive assessment of candidate genes associated with fattening performance in Holstein–Friesian bulls

The objective of this study was to determine the association of single nucleotide polymorphisms (SNPs) in selected candidate genes with fattening performance traits in a commercial cattle herd. Fifteen SNPs in 12 candidate genes (LEP, FABP4, DGAT1, TG, IGF1, IGF1R, MYF5, LGB, CAPN1, CAST, GHR, and OLR1) were evaluated in 296 purebred Holstein–Friesian bulls using PCR-RFLP (polymerase chain reaction – restriction fragment length polymorphism). Associations between each segregating SNP and genetic merit for fattening performance were quantified using linear mixed models. Traits included in the study were fattening period, final weight, dry matter intake, feed conversion rate, and average daily weight gain. Apart from the general determination of the above-mentioned traits, each trait was evaluated based on the fattening periods between five selected target body weights (W1&thinsp;=&thinsp;100&thinsp;kg, W2&thinsp;=&thinsp;200&thinsp;kg, W3&thinsp;=&thinsp;300&thinsp;kg, W4&thinsp;=&thinsp;400&thinsp;kg, W5&thinsp;=&thinsp;450&thinsp;kg). All markers with the exception of CAPN1 530, IGF1R, TG, and DGAT1 were associated with at least one of the traits. Furthermore, novel associations were observed for LEP&thinsp;×&thinsp;GHR, IGF1&thinsp;×&thinsp;LEP, FABP4 3691&thinsp;×&thinsp;FABP4 2834, and FAP4 3533&thinsp;×&thinsp;LEP interactions. The results of this study confirm some previously reported associations. Moreover, novel associations have been identified, which may be incorporated into breeding programs to improve fattening performance.</p

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

Recessive mutations in the MSTO1 gene, encoding for a mitochondrial distribution and morphology regulator, have been recently described in a very limited number of patients with multisystem involvement, mostly characterized by myopathy or dystrophy, cerebellar ataxia, pigmentary retinopathy and raised creatine kinase levels. Here we report an additional patient with recessive MSTO1-related muscular dystrophy (MSTO1-RD), and clinical and radiological evidence of progressive cerebellar involvement. Whole-exome sequencing identified two novel MSTO1 missense variants, c.766C > T (p. (Arg256Trp) and c.1435C > T (p. (Pro479Ser), predicted as damaging by in silico tools. We also report a distinct pattern of selective involvement on muscle MRI in MSTO1-RD. This case confirms a consistent MSTO1-related neuromuscular phenotype and in addition suggests a progressive neurological component at least in some patients, in keeping with the mitochondrial role of the defective protein

Flaw Detection of Cast-Steel Safety Parts in Automotive Application

Casting is the most economical way of producing parts for many industries ranging from automotive, aerospace to construction towards small appliances in many shares. One of the challenges is the achievement of defect-free cast parts. There are many ways to do this which starts with calculation and design of proper runner system with correct size and number of feeders. The first rule suggests starting with clean melt. Yet, rejected parts can still be found. Although depending on the requirement from the parts, some defects can be tolerated, but in critical applications, it is crucial that no defect should exist that would deteriorate the performance of the part. Several methods exist on the foundry floor to detect these defects. Functional safety criteria, for example, are a must for today's automotive industry. These are not compromised under any circumstances. In this study, based on the D-FMEA (Design Failure Mode and Effect Analysis) study of a functional safety criterion against fuel leakage, one 1.4308 cast steel function block, which brazed-on fuel rail port in fuel injection unit, was investigated. Porosity, buckling, inclusion and detection for leak were carried out by non-destructive test (NDT) methods. It was found that the best practice was the CT-Scan (Computed Tomography) for such applications

Determining the frequencies of B1, B2, B3 and E alleles of the CSN1S1 gene and their effects on milk yield and composition in Saanen goats

The aim of the study was to determine the frequencies of B1, B2, B3 and E alleles of the CSN1S1 gene and their effects on milk yield and composition in the Saanen goat breed. Milk samples were collected to identify milk composition with Fourier transform ınfrared (FTIR) spectroscopy. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to characterize the alleles of CSN1S1 gene. The allelic frequencies of the B1, B2, B3 and E alleles were 0.927, 0.073, 0.390, and 0.272, respectively. B1 and B2 alleles did not affect milk yield and composition. B3 allele had significant effects on protein, fat, total solid (TS), solid not fat (SNF), casein and lactose percentages, but not on lactose yield. E allele significantly influenced fat and TS percentages of milk in the Saanen goat breed. The protein (3.58%), fat (3.83%), TS (12.06%), SNF (8.60%) and casein percentages (2.80%) were higher in B3/B3 goats than in B3/NB3 (NB3: non-B3) and NB3/NB3 goats. For E allele, NE/NE (NE: non-E) goats displayed higher fat (4.06%) and TS (12.42%) percentages of milk than their E/E and E/NE counterparts. As a result, the potential for improving milk composition by selecting for B3 and E allele may be significant in Saanen goats.Keywords: Capra hircus, PCR-RFLP, SNP, milk productio

Individual and combined effects of <i>CAPN1</i>, <i>CAST</i>, <i>LEP</i> and <i>GHR</i> gene polymorphisms on carcass characteristics and meat quality in Holstein bulls

The objective of this study was to determine the association of single nucleotide polymorphisms (SNPs) with carcass characteristics and meat quality traits in selected candidate genes in Holstein bulls. Five SNPs in four genes, i.e. calpain 1 (CAPN1), calpastatin (CAST), leptin (LEP) and growth hormone receptor (GHR), were genotyped in 400 purebred bulls using PCR-RFLP. Statistically significant associations were as follows: CAPN1 G316A with live weight, carcass weight, back fat thickness, m. longissimus thoracis et lumborum area and carcass measurements; CAPN1 V530I with pH and L∗; CAST S20T with live weight, inner chest depth and b∗ value; and GHR with ph, a∗ and h∗. In addition, significant genotypic interactions were observed for dressing percentage (LEP A80V  ×  CAST S20T), pH (CAPN1 V530I  ×  GHR S555G and LEP A80V  ×  GHR S555G) and rump width (CAPN1 V530I  ×  CAST S20T). There was no association between the LEP A80V marker and any of the traits evaluated, nor was there any association of the tested SNPs with chest width, C∗ and marbling score. The present results could therefore be indicative for future studies on meat yield and quality