The occurrence of boar taint in meat from uncastrated males may significantly affect the economics of pork production. The aim of this study was to analyse associations of four single nucleotide polymorphisms (SNPs) in the porcine CYP2E1 gene with skatole, indole, and androstenone levels in the Czech Large White-Czech Landrace commercial crossbreds. The SNPs were: g.2412C>T, c.1422C>T, c.1423G>A and c.*14G>T. Skatole, indole and androstenone levels were estimated by HPLC, and genotypes at the SNPs were determined by PCR-RFLP. SNPs c.1423G>A and c.*14G>T were in complete linkage disequilibrium. In boars, all SNPs were associated with the indole levels (P<0.05; P<0.01). There also were differences in the skatole levels in different genotypes, but these were not significant. No associations with androstenone levels were found. The associations of the SNPs with indole compounds should be studied in other commercial populations of boars to verify the favourable alleles and genotypes, with the prospect for their application in marker-assisted selection.

• MeSH
• androsteny analýza   MeSH
• červené maso MeSH
• cytochrom P-450 CYP2E1 genetika   MeSH
• genetické asociační studie MeSH
• indoly analýza   MeSH
• jednonukleotidový polymorfismus * MeSH
• křížení genetické MeSH
• mapování chromozomů MeSH
• skatol analýza   MeSH
• Sus scrofa genetika   MeSH
• tuková tkáň chemie   MeSH
• vazebná nerovnováha MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

Eukaryotic translation elongation factor 1 alpha (EEF1A) plays a key role in protein synthesis. In higher vertebrates EEF1A occurs in two isoforms, EEF1A1 and EEF1A2, encoded by distinct genes. The purpose of this study was to compare the two porcine genes as for the genomic sequence, gene organization and mRNA expression in different tissues, as well as to search for polymorphism and chromosomal assignment. Standard methods of DNA and mRNA analysis were used. We determined the complete genomic sequence of the porcine EEF1A1 and EEF1A2 genes. The two genes differ in the lengths of transcription units (3102 and 8588 bp, respectively), but have similar genomic organization and their coding sequences are highly similar (78% identity of coding sequences and 92.4% identity of amino acid sequences). Several polymorphisms in the two genes were detected. EEF1A1 and EEF1A2 were mapped to SSC1p11.1 and SSC17q23.3, respectively. mRNA of EEF1A1 was expressed in all studied tissues (the highest expression was in 44-day fetal muscle and low expression in adult liver and brain), while EEF1A2 was expressed only in skeletal-muscle, tongue, heart, diaphragm and brain tissues. EEF1A2 was not expressed in fetal muscle tissue (44 days). In this paper results are provided on genomic sequences, genomic organization, polymorphism, chromosomal assignment and spatial and temporal expressions of the porcine EEF1A1 and EEF1A2 genes. Novel polymorphisms were described in both genes. Porcine EEF1A2 was studied for the first time.

• MeSH
• elongační faktor 1 genetika   MeSH
• elongační faktor 2 genetika   MeSH
• exprese genu MeSH
• genomika MeSH
• molekulární sekvence - údaje MeSH
• orgánová specificita MeSH
• polymorfismus genetický * MeSH
• sekvence nukleotidů MeSH
• sekvenční analýza DNA MeSH
• stanovení celkové genové exprese MeSH
• Sus scrofa genetika   metabolismus   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Cone-rod dystrophy is a progressive inherited retinal degenerative disorder that occurs in humans and dogs. The deletion in the nephronophthisis 4 (NPHP4) gene was established as a causative mutation in standard wire-haired Dachshunds. We analyzed all varieties of Dachshunds from the Czech Republic and five other dog breeds and found that the deletion in the NPHP4 (in heterozygous state) is present not only in standard-, but also in miniature wire-haired Dachshunds, but not in other varieties of Dachshunds or in other breeds.

• MeSH
• cystická onemocnění ledvin genetika   metabolismus   MeSH
• delece genu * MeSH
• genetická predispozice k nemoci MeSH
• nemoci psů genetika   MeSH
• psi MeSH
• regulace genové exprese fyziologie   MeSH
• retinopathia pigmentosa genetika   veterinární   MeSH
• zvířata MeSH
• Check Tag
• psi MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Over the years, researchers have used presumptively neutral molecular variation to infer the origins of current species' distributions in northern latitudes (especially Europe). However, several reported examples of genic and chromosomal replacements suggest that end-glacial colonizations of particular northern areas may have involved genetic input from different source populations at different times, coupled with competition and selection. We investigate the functional consequences of differences between two bank vole (Clethrionomys glareolus) haemoglobins deriving from different glacial refugia, one of which partially replaced the other in Britain during end-glacial climate warming. This allows us to examine their adaptive divergence and hence a possible role of selection in the replacement. We determine the amino acid substitution Ser52Cys in the major expressed β-globin gene as the allelic difference. We use structural modelling to reveal that the protein environment renders the 52Cys thiol a highly reactive functional group and we show its reactivity in vitro. We demonstrate that possessing the reactive thiol in haemoglobin increases the resistance of bank vole erythrocytes to oxidative stress. Our study thus provides striking evidence for physiological differences between products of genic variants that spread at the expense of one another during colonization of an area from different glacial refugia.

• MeSH
• Arvicolinae klasifikace   genetika   metabolismus   MeSH
• fylogeografie MeSH
• genetická variace MeSH
• hemoglobiny chemie   genetika   metabolismus   MeSH
• molekulární sekvence - údaje MeSH
• substituce aminokyselin MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Spojené království MeSH

BACKGROUND: Independent studies have shown that several single nucleotide polymorphisms (SNP) in the human FTO (fat mass and obesity associated) gene are associated with obesity. SNP have also been identified in the pig FTO gene, among which some are associated with selected fat-deposition traits in F2 crosses and commercial populations. In this study, using both commercial pig populations and an experimental Meishan × Pietrain F2 population, we have investigated the association between one FTO SNP and several growth and carcass traits. Association analyses were performed with the FTO polymorphism either alone or in combination with polymorphisms in flanking loci. METHODS: SNP (FM244720:g.400C>G) in exon 3 of porcine FTO was genotyped by PCR-RFLP and tested for associations with some growth, carcass and fat-related traits. Proportions of genetic variance of four pig chromosome 6 genes (FTO, RYR1, LIPE and TGFB1) on selected traits were evaluated using single- and multi-locus models. RESULTS: Linkage analysis placed FTO on the p arm of pig chromosome 6, approximately 22 cM from RYR1. In the commercial populations, allele C of the FTO SNP was significantly associated with back fat depth and allele G with muscling traits. In the Meishan × Pietrain F2 pigs, heterozygotes with allele C from the Pietrain sows and allele G from the Meishan boar were more significantly associated with fat-related traits compared to homozygotes with allele G from the Pietrain and allele G from the Meishan breed. In single- and multi-locus models, genes RYR1, TGFB1 and FTO showed high associations. The contribution in genetic variance from the polymorphism in the FTO gene was highest for back fat depth, meat area on the musculus longissimus lumborum et thoracis tissues and metabolite glucose-6-phosphate dehydrogenase. CONCLUSIONS: Our results show that in pig, FTO influences back fat depth in the commercial populations, while in the Meishan × Pietrain F2 pigs with a CG genotype, heterosis occurs for several fat-related traits.

• MeSH
• dioxygenasy genetika   MeSH
• frekvence genu MeSH
• genetické asociační studie MeSH
• genetické lokusy MeSH
• jednonukleotidový polymorfismus MeSH
• mapování chromozomů MeSH
• modely genetické MeSH
• ryanodinový receptor vápníkového kanálu genetika   MeSH
• složení těla genetika   MeSH
• Sus scrofa anatomie a histologie   genetika   růst a vývoj   MeSH
• transformující růstový faktor beta1 genetika   MeSH
• tuková tkáň anatomie a histologie   MeSH
• vazebná nerovnováha MeSH
• záda anatomie a histologie   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

• MeSH
• lokus kvantitativního znaku MeSH
• mapování chromozomů MeSH
• maso MeSH
• polymorfismus genetický MeSH
• Sus scrofa genetika   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

The porcine orthologues of human chromosome HSA9q22.31 genes osteoglycin (OGN) and asporin (ASPN) were mapped to porcine chromosome SSC3 using linkage analysis and a somatic cell hybrid panel. This mapping was refined to SSC3q11 using fluorescence in situ hybridization. These results confirm the existence of a small conserved synteny group between SSC3 and HSA9. Polymorphisms were revealed in both genes, including a pentanucleotide microsatellite (SCZ003) in OGN and two single nucleotide polymorphisms (AM181682.1:g.780G>T and AM181682.1:g.825T>C) in ASPN. The two genes were included in a set of markers for quantitative trait loci (QTL) mapping on SSC3 in the Hohenheim Meishan x Piétrain F2 family. Major QTL for growth and carcass traits were centred in the ASPN-SW902 region.

• MeSH
• financování organizované MeSH
• glykoproteiny genetika   MeSH
• jednonukleotidový polymorfismus MeSH
• křížení genetické MeSH
• lidé MeSH
• lokus kvantitativního znaku MeSH
• mapování chromozomů MeSH
• mezibuněčné signální peptidy a proteiny MeSH
• mikrosatelitní repetice MeSH
• prasata genetika   růst a vývoj   MeSH
• proteoglykany genetika   MeSH
• syntenie MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• zvířata MeSH
• Publikační typ
• srovnávací studie MeSH

• MeSH
• DNA primery MeSH
• DNA vazebné proteiny genetika   MeSH
• finanční podpora výzkumu jako téma MeSH
• hybridizace in situ fluorescenční MeSH
• klonování DNA MeSH
• mapování pomocí radiačních hybridů MeSH
• molekulární sekvence - údaje MeSH
• protoonkogenní proteiny genetika   MeSH
• receptory GABA-A genetika   MeSH
• savčí chromozomy genetika   MeSH
• sekvence nukleotidů MeSH
• sekvenční analýza DNA MeSH
• Sus scrofa genetika   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• srovnávací studie MeSH

• MeSH
• alely MeSH
• elektroforéza v agarovém gelu MeSH
• genom MeSH
• glukosylceramidasa genetika   MeSH
• klonování DNA MeSH
• mapování chromozomů MeSH
• polymorfismus genetický MeSH
• skot MeSH
• zvířata MeSH
• Check Tag
• skot MeSH
• zvířata MeSH
• Publikační typ
• srovnávací studie MeSH

• MeSH
• enzymový systém rušící větvení glykogenu genetika   MeSH
• finanční podpora výzkumu jako téma MeSH
• krátké rozptýlené jaderné elementy MeSH
• mapování chromozomů veterinární   MeSH
• polymorfismus genetický MeSH
• prasata MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH