Comparison between the three porcine RN genotypes for growth, carcass composition and meat quality traits

A three-step experimental design has been carried out to add evidence about the existence of the RN gene, with two segregating alleles RN- and rn+, having major effects on meat quality in pigs, to estimate its effects on production traits and to map the RN locus. In the present article, the experimental population and sampling procedures are described and discussed, and effects of the three RN genotypes on growth and carcass traits are presented. The RN genotype had no major effect on growth performance and killing out percentage. Variables pertaining to carcass tissue composition showed that the RN- allele is associated with leaner carcasses (about 1 s.d. effect without dominance for back fat thickness, 0.5 s.d. effect with dominance for weights of joints). Muscle glycolytic potential (GP) was considerably higher in RN- carriers, with a maximum of a 6.85 s.d. effect for the live longissimus muscle GP. Physico-chemical characteristics of meat were also influenced by the RN genotype in a dominant way, ultimate pH differing by about 2 s.d. between homozygous genotypes and meat colour by about 1 s.d. Technological quality was also affected, with a 1 s.d. decrease in technological yield for RN- carriers. The RN genotype had a more limited effect on eating quality. On the whole, the identity between the acid meat condition and the RN- allele effect is clearly demonstrated (higher muscle GP, lower ultimate pH, paler meat and lower protein content), and the unfavourable relationship between GP and carcass lean to fat ratio is confirmed

Rare Dihydropyrimidine Dehydrogenase Variants and Toxicity by Floropyrimidines: A Case Report

Variations in the activity, up to absolute deficiency, of the enzyme dihydropyrimidine dehydrogenase (DPD), result in the occurrence of adverse reactions to chemotherapy, and have been included among the pharmacogenetic factors underlying inter-individual variability in response to fluoropyrimidines. The study of single-nucleotide polymorphisms of the DPYD gene, which encodes the DPD enzyme, is one of the main parameters capable of predicting reduced enzymatic activity and the consequent influence on fluoropyrimidine treatment, in terms of reduction of both adverse reactions and therapeutic efficacy in disease control. In this paper, we describe a patient with metastatic breast cancer showing signs of increased toxicity following capecitabine therapy. The DPD enzyme activity analysis revealed a partial deficiency. The study of the most frequent polymorphisms of the DPYD gene suggested a wild-type genotype but indicated a novel variant c.1903A>G (p.Asn635Asp), not previously described, proximal to the splice donor site of exon 14. After excluding the potential pathogenic feature of the newly-identified variant, we performed cDNA sequencing of the entire DPYD coding sequence. This analysis identified the variants c.85T>C and c.496A>G, which were previously described as pivotal components of the haplotype associated with decreased enzyme activity and suggested that both variant alleles are related to DPD deficiency. The clinical case findings described in this study emphasize the importance of performing complete genetic analysis of the DPYD gene in order to identify rare and low frequency variants potentially responsible for toxic reactions to fluoropyrimidine treatment

Detection of quantitative trait loci for growth and fatness in pigs

A quantitative trait locus (QTL) analysis of growth and fatness data from a three-generation experimental cross between Meishan (MS) and Large White (LW) pig breeds is presented. Six boars and 23 F1 sows, the progeny of six LW boars and six MS sows, produced 530 F2 males and 573 F2 females. Nine growth traits, i.e. body weight at birth and at 3, 10, 13, 17 and 22 weeks of age, average daily gain from birth to 3 weeks, from 3 to 10 weeks and from 10 to 22 weeks of age, as well as backfat thickness at 13, 17 and 22 weeks of age and at 40 and 60 kg live weight were analysed. Animals were typed for a total of 137 markers covering the entire porcine genome. Analyses were performed using two interval mapping methods: a line-cross (LC) regression method where founder lines were assumed to be fixed for different QTL alleles and a half-/full-sib (HFS) maximum likelihood method where allele substitution effects were estimated within each half-/full-sib family. Both methods revealed highly significant gene effects for growth on chromosomes 1, 4 and 7 and for backfat thickness on chromosomes 1, 4, 5, 7 and X, and significant gene effects on chromosome 6 for growth and backfat thickness. Suggestive QTLs were also revealed by both methods on chromosomes 2 and 3 for growth and 2 for backfat thickness. Significant gene effects were detected for growth on chromosomes 11, 13, 14, 16 and 18 and for backfat thickness on chromosome 8, 10, 13 and 14. LW alleles were associated with high growth rate and low backfat thickness, except for those of chromosome 7 and to a lesser extent early-growth alleles on chromosomes 1 and 2 and backfat thickness alleles on chromosome 6

QCompere @ REPERE 2013

International audienceWe describe QCompere consortium submissions to the REPERE 2013 evaluation campaign. The REPERE challenge aims at gathering four communities (face recognition, speaker identification, optical character recognition and named entity detection) towards the same goal: multimodal person recognition in TV broadcast. First, four mono-modal components are introduced (one for each foregoing community) constituting the elementary building blocks of our various submissions. Then, depending on the target modality (speaker or face recognition) and on the task (supervised or unsupervised recognition), four different fusion techniques are introduced: they can be summarized as propagation-, classifier-, rule- or graph-based approaches. Finally, their performance is evaluated on REPERE 2013 test set and their advantages and limitations are discussed

QCompere @ REPERE 2013

International audienceWe describe QCompere consortium submissions to the REPERE 2013 evaluation campaign. The REPERE challenge aims at gathering four communities (face recognition, speaker identification, optical character recognition and named entity detection) towards the same goal: multimodal person recognition in TV broadcast. First, four mono-modal components are introduced (one for each foregoing community) constituting the elementary building blocks of our various submissions. Then, depending on the target modality (speaker or face recognition) and on the task (supervised or unsupervised recognition), four different fusion techniques are introduced: they can be summarized as propagation-, classifier-, rule- or graph-based approaches. Finally, their performance is evaluated on REPERE 2013 test set and their advantages and limitations are discussed