Biomedical subjects
Publications and source records attributed to Nadine Buys.
Sheep scab, caused by infestation with the ectoparasitic mite, Psoroptes ovis, represents a major welfare and economic challenge for the livestock industry. We present an updated 62.7 Mb genome assembly containing 10 chromosome-level scaffolds with 10,516 annotated protein-coding genes, which provides a useful resource for studies into resistance and control.
In pigs, a paternally (pat) imprinted mutation in the IGF-II gene is associated with increased muscle mass and decreased backfat thickness. The aim of this study was to determine whether this mutation influenced cellular, biochemical and metabolic features of skeletal muscle and adipose tissue. Muscle (trapezius) and subcutaneous adipose tissue (SCAT) were collected from pigs (106kg) carrying (Qpat, n=6) or not carrying (qpat, n=7) the mutation. Adipocytes were isolated from those tissues by collagenase treatment. Lipid content and activity of lipogenic enzymes were determined using standard assays. Gene expression levels were determined by real-time PCR. Levels of IGF-II mRNA were higher (P<0.01) in muscle of Qpat than in that of qpat pigs, but they did not differ significantly between the two groups in SCAT. Whereas levels of IGF-I mRNA in muscle were similar in both groups, they were higher (P<0.05) in SCAT of Qpat pigs than in that of qpat pigs. Muscle lipid content and intramuscular adipocyte diameters were not influenced significantly by the IGF-II genotype. In SCAT, the reduction of backfat thickness in Qpat pigs compared with qpat pigs was associated with lower (P<0.05) lipid content and smaller (P<0.05) adipocytes, with no significant genotype-effects on expressions and/or activities of lipogenic enzymes. In summary, our results suggest that the IGF-II mutation altered body composition in pigs by favoring myofiber hypertrophy and repressing adipose cell development in SCAT.
A paternally expressed quantitative trait locus (QTL) for muscle mass was mapped to the insulin-like growth factor II (IGF2) locus at the distal end of pig chromosome 2p. It was recently demonstrated that a G to A transition at position intron 3-nt 3072 is the quantitative trait nucleotide (QTN) underlying this QTL. In this study we report for the first time the existence of imprinted porcine IGF2 antisense transcripts (IGF2-AS) and demonstrate that their expression in postnatal muscle is also affected by the QTN. A coregulated expression of IGF2 and IGF2-AS RNAs in muscle and liver with decreasing transcription from fetal to adult age was demonstrated. Further, the significant difference found in expression of IGF2-AS in postnatal muscle between individuals with different QTL genotypes and the lack of significant differences in fetal muscle and liver reflect completely what has been found for IGF2 sense transcripts.
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Most traits and disorders have a multifactorial background indicating that they are controlled by environmental factors as well as an unknown number of quantitative trait loci (QTLs). The identification of mutations underlying QTLs is a challenge because each locus explains only a fraction of the phenotypic variation. A paternally expressed QTL affecting muscle growth, fat deposition and size of the heart in pigs maps to the IGF2 (insulin-like growth factor 2) region. Here we show that this QTL is caused by a nucleotide substitution in intron 3 of IGF2. The mutation occurs in an evolutionarily conserved CpG island that is hypomethylated in skeletal muscle. The mutation abrogates in vitro interaction with a nuclear factor, probably a repressor, and pigs inheriting the mutation from their sire have a threefold increase in IGF2 messenger RNA expression in postnatal muscle. Our study establishes a causal relationship between a single-base-pair substitution in a non-coding region and a QTL effect. The result supports the long-held view that regulatory mutations are important for controlling phenotypic variation.
We herein describe the fine mapping of an imprinted QTL with major effect on muscle mass that was previously assigned to distal SSC2p in the pig. The proposed approach exploits linkage disequilibrium in combination with QTL genotyping by marker-assisted segregation analysis. By identifying a haplotype shared by all "Q" chromosomes, we map the QTL to an approximately 250-kb chromosome segment containing INS and IGF2 as the only known paternally expressed genes. This considerably reinforces the candidacy of these genes, justifying their detailed analysis.