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EN
The term nutrigenomics refers to the effect of diet on gene expression, while the term nutrigenetics refers to the influence of genetic variation (single nucleotide polymorphisms and/or copy number variation) on the response to a specific diet, functional food or diet supplement. Nutrigenomics and nutrigenetics become an important new research areas because there is growing evidence that diet can influence the long-term risk for metabolic, degenerative or cancer diseases. Various nutrients can influence DNA and chromatine structure, regulation of transcription and signal transduction. Understanding of the diet-gene interactions will allow to redefine current concepts of preventive medicine or dietetics and improve functional food production.
EN
The alpha-1,3-galactosyltransferase 1 enzyme (GGTA1) produces the -Gal epitopes, responsible for pig-to-human hyperacute xenograft rejection. Recently, efforts have been directed at inactivating the porcine GGTA1 gene in order to reduce hyperacute rejection. As very little is known about the genetic variability of this key gene among pig breeds, we investigated the variation in its nucleotide sequence, by amplification of the entire coding region with the use of polymerase chain reaction followed by DNA sequencing. Eight commercial pig populations were analysed and 17 single nucleotide polymorphisms (SNPs) were detected: 11 in intronic regions and 6 in the 3' untranslated region (UTR). No SNPs change the encoded protein; however, 8 of these SNPs may alter the transcriptional regulation and pre-mRNA splicing of GGTA1.
EN
The diacylglycerol o-acyltransferase 1 gene (DGAT1) was investigated in Polish Black-and-White cattle. The frequency of the K allele was 0.60, 0.68 and 0.48 for AI sires (n = 150), young bulls (n = 139) and cows (n = 213), respectively. The method of selective genotyping for identification of the quantitative trait nucleotide was verified through identification of DGAT1 effect on milk production traits. Daughters of six heterozygous bulls were selectively genotyped based on their milk traits. The genotypic frequencies differed between high and low yield groups representing milk and fat contents. The Kruskal-Wallis test revealed a highly significant effect of DGAT1 K232A in cows with extremely low fat content and a significant effect in cows with extremely high protein content of milk. No significant effect of AI sires' genotypes on their breeding value was found.
EN
Adipose triglyceride lipase (ATGL) catalyses the initial step in triglyceride hydrolysis, so the ATGL gene is a candidate for growth and fat traits in chickens. Nine reported single-nucleotide polymorphisms (SNPs) located in 3 exons of the chicken ATGL gene were chosen for genotyping an F2 population. Only 5 SNPs were confirmed for polymorphisms and used for association analyses. The results show that c.531G>A (p.E177Syn) was not associated with any growth and fat traits (P > 0.05), but c.782G>A (p.S261N) was associated with body weight (BW) on days 14, 21, 35, 63, 70, 77, cingulated fat width and abdominal fat pad weight (P < 0.05), and significantly associated with BW on days 42, 49, and 56 (P < 0.01). Significant associations of c.903C>T (p.F301Syn) with BW on days 49 and 77 days and crude protein content of breast muscle (P < 0.05), and c.1164G>A (p.K388Syn) with BW on day 7 (P < 0.05) were also detected. Additionally, c.1069T>C (p.L357Syn) was associated with breast muscle colour (P < 0.05), and significantly associated with crude fat (ether extract) content of breast muscle (P < 0.01). Thus the missense SNP of c.782G>A (p.S261N) was significantly associated with the largest number of chicken growth and fat traits in this study.
EN
Concentrations of the single-chain polypeptide hormone prolactin (PRL) are associated with wool or cashmere traits, and its seasonal changes may determine patterns of enzymatic activity and may affect cashmere fibre growth and moult. So, the PRL gene is a potential candidate gene for cashmere traits in marker-assisted selection (MAS). In this paper, we report a novel missense single-nucleotide polymorphism (SNP) within the goat PRL gene in 1367 individuals by PCR-SSCP (polymerase chain reaction with single-strand conformation polymorphism) analysis and DNA sequencing. The novel X76049:g.576C>A mutation is confirmed by Eco24I PCR-RFLP (restriction fragment length polymorphism) analysis and causes a missense codon (Pro176Thr). The frequencies of allele C varied from 0.79 to 0.93 in 9 analysed goat populations. C allele was correlated with higher fibre length (P = 0.014).
EN
A critical role of mitochondrial dysfunction and oxidative damage has been implicated in etiopathology of many neurodegenerative disorders, as well as in normal aging. Alzheimer's and Parkinson's diseases are common devastating late-onset neurodegenerative disorders, associated with mitochondrial DNA variations, which are suggested to affect mitochondrial functions. This paper reviews the current knowledge on the inherited and somatic mtDNA variations in both conditions.
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