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Myogenic factor 5 (myf-5) is the product of the MYF5 gene, belonging to the MyoD family. This transcription factor participates in the control of myogenesis. We identified 3 new mutations in the promoter region of the gene: A65C, C580T and C613T. The aim of this study was to evaluate the influence of the A65C transversion on gene expression. The analysis was conducted on 15 Polish Large White gilts. The relative content of MYF5 mRNA in m. longissimus dorsi did not differ significantly across MYF5 genotypes (AA, AC, CC). This result suggests that the A65C transversion may not play an important role in the expression of the MYF5 gene in analysed adult muscle but it abolishes a putative binding site for two transcription factors (CDP and HSF1) and creates such a site for Sp1.
The gene encoding solute carrier family 6 member 14 (SLC6A14) has been considered as a candidate gene affecting human obesity. In this study, full-length cDNA (2237 bp) and DNA sequence (24 541 bp) of the porcine SLC6A14 gene were isolated. The porcine SLC6A14 cDNA contains a 5'-untranslated region of 57 bp, a 3' -untranslated region of 254 bp, and an open reading frame of 1926 bp, encoding a deduced protein of 642 amino acids with a molecular mass of 72. 475 kDa and an isoelectric point of 7.82. The genomic structure of the porcine SLC6A14 gene is similar to mammalian orthologs, particularly in terms of exon size and exon/intron boundaries. It comprises 14 exons and 13 introns. A semi-quantitative RT-PCR showed that the porcine SLC6A14 mRNA expression was tissue-specific. Four SLC6A14 single-nucleotide polymorphisms (SNPs) were identified, and 3 informative SNPs were chosen for genotvping in a White Duroc × Erhualian resource population with phenotvpe data of growth and fatness traits. The association analysis showed that the c. 1438 G>A nonsynonymous polymorphism was associated with birth weight and 21-day body weight (P < 0.05), while g.7944 A>T was associated with 46-day body weight. Linkage and radiation hybrid mapping assigned SLC6A14 to a region around SW1522 on SSCXp13, which did not fall in the confidence interval of the quantitative trait locus (QTL) for growth and fatness traits on SSCX in the resource population. These results indicate that SLC6A14 is not a positional candidate gene for the QTL affecting fatness and growth traits in pigs.
The RYR1 gene encoding the Ca²⁺ channel of sarcoplasmic reticulum of human skeletal muscle has been cloned and its nucleotide sequence has been determined earlier. We have used the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP), and sequencing analysis for human, porcine (Sus scrofa), and zebrine (Equus grevyi) ryanodine receptor (ryrl) gene. The fragment of exon 17 of the ryr1 gene was characterized by a high homology between all the analysed species (substitution of a nucleotide is underlined): porcine ryr1 ¹⁸³⁴GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁹ human RYR1 ¹⁸³¹GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁶ zebrine ryr1 GTG GCC GTG CGC TCC AAC CAA GAC CT.
MYOG and MYF6 belong to the MyoD gene family. They code for the bHLH transcription factors playing a key role in later stages of myogenesis: differentiation and maturation of myotubes. Three SNPs in porcine MYF6 and two in porcine MYOG were analysed in order to establish associations with chosen carcass quality and growth rate traits in Polish Landrace, Polish Large White and line 990 sows. No statistically significant effect of SNP in the promoter region of the MYF6 gene on its expression measured on mRNA level was found. Associations between the genotype at the MYF6 locus and carcass quality traits appeared to be breed-dependent. The C allele in the case of SNP in the promoter region and GC haplotype in exon 1 were advantageous for right carcass side weight in Polish Landrace sows and disadvantageous for this trait in Polish Large White sows. These gene variants were also the most advantageous for loin and ham weight in sows of line 990. The mutation in exon 1 of the MYOG gene had no statistically significant association with carcass quality traits and the mutation in the 3’-flanking region had the breed-dependent effect as well. These results suggest that SNPs analysed in this study are not causative mutations, but can be considered as markers of some other, still unrevealed genetic polymorphism that influences the physiological processes and phenotypic traits considered in this study.
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