Person: Sevane Fernández, Natalia
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First Name
Natalia
Last Name
Sevane Fernández
Affiliation
Universidad Complutense de Madrid
Faculty / Institute
Veterinaria
Department
Producción Animal
Area
Producción Animal
Identifiers
20 results
Search Results
Now showing 1 - 10 of 20
Item New single nucleotide polymorphisms in Alectoris identified using chicken genome information allow Alectoris introgression detection(Molecular Ecology Resources, 2010) Sevane Fernández, Natalia; Cortés Gardyn, Óscar; García D; Cañón Ferreras, Francisco Javier; Dunner Boxberger, Helene SusanaUsing the chicken genome, 114 polymorphisms (109 SNPs and 5 INDELs) were identified in the Alectoris genus by polymerase chain reaction–single strand conformation polymorphism. Using these, a panel of SNPs is described, which allows easy detection of introgression of Alectoris chukar in wild Alectoris rufa populations, when used with a primer extension protocol. The selected polymorphisms were genotyped and their allelic frequencies estimated on 98 A. rufa partridges sampled from nonrestocking Spanish areas, and 63 A. chukar partridges from Greek and Spanish farms. Power calculations to determine an optimum subset of markers for a given significance level were performed.Item Syringohydromyelia in Dogs: The Genomic Component Underlying a Complex Neurological Disease(Animals, 2022) Andrino García, Sandra; Lorenzo, Valentina; Dunner Boxberger, Helene Susana; Contreras Alcaide, Elisabeth; Cañón Ferreras, Francisco Javier; Sevane Fernández, NataliaSyringohydromyelia (SHM) is a neurological disorder characterized by the appearance of fluid-containing cavities within the spinal cord. Although SHM is thought to be under multigenic control, the molecular basis of this disease remains poorly defined. A genome-wide association study (GWAS) was carried out comparing the whole genome sequences (WGS) from 12 dogs with SHM and 2 panels of 26 dogs (either older than 5 years and showing the absence of SHM or belonging to breeds not susceptible to SHM) to identify candidate genes associated with the development of SHM. Seven candidate genes were identified. Of these, five genes were determined to be involved in bone development (PLXNA2, HHAT, MBOAT2, ITGAV) and calcium homeostasis (HPCAL1). Although further validation is needed at the transcript level, it is worth highlighting the association of a possible pathogenic variant which generated a new intronic branch-site sequence in PLXNA2 (T/C, CFA7:7043294). Considering previous studies in dogs that show SHM related to craniocervical junction (CCJ) malformations, these genes can be considered good candidates for the development of this disease. This report dissects the genomic component of SHM in dogs, which paves the way for further research on this complex disease found both in canine and human species.Item Genes involved in muscle lipid composition in 15 European Bos taurus breeds(Animal Genetics, 2013) Dunner Boxberger, Helene Susana; Sevane Fernández, Natalia; Garcia D; Levéziel H; Williams JL; Mangin B; Valentini AConsumers demand healthy and palatable meat, both factors being affected by fat composition. However, red meat has relatively high concentration of saturated fatty acids and low concentration of the beneficial polyunsaturated fatty acids. To select animals prone to produce particular fat types, it is necessary to identify the genes influencing muscle lipid composition. This paper describes an association study in which a large panel of candidate genes involved in adipogenesis, lipid metabolism and energy homoeostasis was tested for effects on fat composition in 15 European cattle breeds. Sixteen genes were found to have significant effects on different lipid traits, and among these, CFL1 and MYOZ1 were found to have large effects on the ratio of 18:2/18:3, CRI1 on the amount of neutral adrenic acid (22:4 n-6), MMP1 on docosahexaenoic acid (22:6 n-3) and conjugated linoleic acid, PLTP on the ratio of n-6:n-3 and IGF2R on flavour. Several genes – ALDH2, CHRNE, CRHR2, DGAT1, IGFBP3, NEB, SOCS2, SUSP1, TCF12 and FOXO1 – also were found to be associated with both lipid and organoleptic traits although with smaller effect. The results presented here help in understanding the genetic and biochemical background underlying variations in fatty acid composition and flavour in beef.Item Phenotypic and genotypic background underlying variations in fatty acid composition and sensory parameters in European bovine breeds(Journal of Animal Science and Biotechnology, 2014) Sevane Fernández, Natalia; Levéziel, Hubert; Nute, Geoffrey R.; Sañudo, Carlos; Valentini, Alessio; Williams, John L.; Dunner Boxberger, Helene Susana; GemQual ConsortiumBackground: Consuming moderate amounts of lean red meat as part of a balanced diet valuably contributes to intakes of essential nutrients. In this study, we merged phenotypic and genotypic information to characterize the variation in lipid profile and sensory parameters and to represent the diversity among 15 cattle populations. Correlations between fat content, organoleptic characteristics and lipid profiles were also investigated. Methods: A sample of 436 largely unrelated purebred bulls belonging to 15 breeds and reared under comparable management conditions was analyzed. Phenotypic data -including fatness score, fat percentage, individual fatty acids (FA) profiles and sensory panel tests- and genotypic information from 11 polymorphisms was used. Results: The correlation coefficients between muscle total lipid measurements and absolute vs. relative amounts of polyunsaturated FA (PUFA) were in opposite directions. Increasing carcass fat leads to an increasing amount of FAs in triglycerides, but at the same time the relative amount of PUFAs is decreasing, which is in concordance with the negative correlation obtained here between the percentage of PUFA and fat measurements, as well as the weaker correlation between total phospholipids and total lipid muscle content compared with neutral lipids. Concerning organoleptic characteristics, a negative correlation between flavour scores and the percentage of total PUFA, particularly to n-6 fraction, was found. The correlation between juiciness and texture is higher than with flavour scores. The distribution of SNPs plotted by principal components analysis (PCA) mainly reflects their known trait associations, although influenced by their specific breed allele frequencies. Conclusions: The results presented here help to understand the phenotypic and genotypic background underlying variations in FA composition and sensory parameters between breeds. The wide range of traits and breeds studied, along with the genotypic information on polymorphisms previously associated with different lipid traits, provide a broad characterization of beef meat, which allows giving a better response to the variety of consumers’ preferences. Also, the development and implementation of low-density SNP panels with predictive value for economically important traits, such as those summarized here, may be used to improve production efficiency and meat quality in the beef industry.Item A novel missense variant in endothelin‐2 ( EDN2 ) causes a growth and respiratory lethal syndrome in bovine(Animal Genetics, 2022) Eusebi, Paulina G.; Cortés Gardyn, Óscar; Contreras, Elisabeth; Cañón Ferreras, Francisco Javier; Dunner Boxberger, Helene Susana; Sevane Fernández, NataliaThe high level of fragmentation of the Spanish Lidia cattle breed, divided into lineages called ‘castas’ and into herds within lineages based on reproductive isolation, increases the risk of homozygosity and the outbreak of recessive genetic defects. Since 2004, an increasing number of calves have been identified in a Lidia herd with signs of severe growth retardation, respiratory alterations and juvenile lethality, which constitutes a novel inherited syndrome in cattle and was subsequently termed growth and respiratory lethal syndrome. We performed a genome-wide association study on a cohort of 13 affected calves and 24 putative non-carrier parents, mapping the disease to a wide 6 cM region on bovine chromosome 3 (p < 10−7). Whole genome re-sequencing of three affected calves and three putative non-carrier parents identified a novel missense variant (c.149G>A|p.Cys50Tyr) in exon 2 of the endothelin 2 (EDN2) gene. Bioinformatic analyses of p.Cys50Tyr effects predicted them to be damaging for both the structure and the function of the edn2 protein, and to create a new site of splicing that may also affect the pattern of pre-mRNA splicing and exon definition. Sanger sequencing of this variant on the rest of the sample set confirmed the segregation pattern obtained with whole genome re-sequencing. The identification of the causative variant and the development of a diagnostic genetic test enable the efficient design of matings to keep the effective population size as high as possible, as well as providing insights into the first EDN2-associated hereditary disease in cattle or other species.Item Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution in horses(Animal Genetics, 2019) Sevane Fernández, Natalia; Sanz, C. R.; Dunner Boxberger, Helene SusanaFour loci seem responsible for the dilution of the basic coat colours in horse: Dun (D), Silver Dapple (Z), Champagne (CH) and Cream (C). Apart from the current phenotypes ascribed to these loci, pearl has been described as yet another diluted coat colour in this species. To date, this coat colour seems to segregate only in the Iberian breeds Purebred Spanish horse and Lusitano and has also been described in breeds of Iberian origin, such as Quarter Horses and Paint Horse, where it is referred to as the ‘Barlink Factor’. This phenotype segregates in an autosomal recessive manner and resembles some of the coat colours produced by the champagne CHCH and cream CCr alleles, sometimes being difficult to distinguish among them. The interaction between compound heterozygous for the pearl Cprl and cream CCr alleles makes SLC45A2 the most plausible candidate gene for the pearl phenotype in horses. Our results provide documented evidence for the missense variation in exon 4 [SLC45A2:c.985G>A; SLC45A2:p.(Ala329Thr)] as the causative mutation for the pearl coat colour. In addition, it is most likely involved as well in the cremello, perlino and smoky cream like phenotypes associated with the compound CCr and Cprl heterozygous genotypes (known as cream pearl in the Purebred Spanish horse breed). The characterization of the pearl mutation allows breeders to identify carriers of the Cprl allele and to select this specific coat colour according to personal preferences, market demands or studbook requirements as well as to verify segregation within particular pedigrees.Item SNPs included in candidate genes involved in muscle, lipid and energy metabolism behave like neutral markers(Animal Production Science, 2015) Sevane Fernández, Natalia; Cañón Ferreras, Francisco Javier; Williams, John L.; Levéziel, Hubert; Valentini, Alessio; Dunner Boxberger, Helene Susana; GemQual ConsortiumStudies of population structure and diversity in cattle have provided insights into the origins of breeds, their history and evolution, and allow the identification of global livestock diversity hotspots, which is important for conservation of diversity. Genetic diversity, genetic relationship, population structure, and the presence of hotspots of genetic diversity among 15 European bovine breeds from five countries were assessed using 435 single nucleotide polymorphisms (SNP) markers identified in candidate genes for muscle, lipid and energy metabolism, thus providing the opportunity to compare the breed relationships obtained using putatively functional markers with previous data using neutral loci. Individuals belonging to 11 breeds tended to be clearly assigned to a single cluster when the number of pre-defined populations reached a maximum in the likelihood of the data at K = 12, whereas Asturiana de los Valles, Danish Red, Simmental, and Avileña-Negra Ibérica displayed a greater degree of admixture, which may be explained by their diverse ancestry. Although overall results were in agreement with those reported by studies based on neutral genetic variations, some additional breed relationship information emerged using markers in candidate functional loci, including the relationship between the Asturiana de los Valles and Piedmontese, and Danish Red and Charolais breeds. This study indicates that the analysed loci have not been main targets for selection or for adaptation processes, but also that SNP within candidate genes related with beef characteristics and performance may provide a slightly new perspective on past breeding and may also help in the development of strategies for the rational conservation of livestock diversity.Item Polymorphisms in ten candidate genes are associated with conformational and locomotive traits in Spanish Purebreed horses(Journal of Applied Genetics, 2016) Sevane Fernández, Natalia; Dunner Boxberger, Helene Susana; Boado, Ana; Cañón Ferreras, Francisco JavierThe Spanish Purebred horses, also known as Andalusian horses, compete to the highest standards in international dressage events. Gait and conformation could be used as early selection criteria to detect young horses with promising dressage ability. Although the genetic background of equine size variation has been recently uncovered, the genetic basis of horse conformational and locomotive traits is not known, hampered by the complex genetic architecture underlying quantitative traits and the lack of phenotypic data. The aim of this study was to validate the loci associated with size in 144 Spanish Purebred horses, and to seek novel associations between loci previously associated with the development of osteochondrosis (OC) lesions and 20 conformational and locomotive traits. Ten loci were associated with different conformational and locomotive traits (LCORL/NCAPG, HMGA2, USP31, MECR, COL24A1, MGP, FAM184B, PTH1R, KLF3 and SGK1), and the LCORL/NCAPG association with size in the Spanish Purebred horse was validated. Except for HMGA2, all polymorphisms seem to influence both the prevalence of OC lesions and morphological characters, supporting the link between conformation and OC. Also, the implication of most genes in either immune and inflammatory responses and cellular growth, or ossification processes, reinforces the role that these mechanisms have in the aetiology of OC, as well as their reflection on the general conformation of the individual. These polymorphisms could be used in marker-assisted selection (MAS) programmes to improve desirable conformational traits, but taking into account their possible detrimental effect on OC prevalence.Item Dietary inulin supplementation modifies significantly the liver transcriptomic profile of broiler chickens(Plos One, 2014) Sevane Fernández, Natalia; Bialade, Federica; Velasco Villar, Susana; Rebolé Garrigós, Almudena; Rodríguez Membibre, María Luisa; Ortiz Vera, Luis Tomás; Cañón Ferreras, Francisco Javier; Dunner Boxberger, Helene Susana; te Pas Marinus FWInclusion of prebiotics in the diet is known to be advantageous, with positive influences both on health and growth. The current study investigated the differences in the hepatic transcriptome profiles between chickens supplemented with inulin (a storage carbohydrate found in many plants) and controls. Liver is a major metabolic organ and has been previously reported to be involved in the modification of the lipid metabolism in chickens fed with inulin. A nutrigenomic approach through the analysis of liver RNA hybridized to the Affymetrix GeneChip Chicken Genome Array identified 148 differentially expressed genes among both groups: 104 up-regulated (≥1.4-fold) and 44 down-regulated (≤0.6-fold). Quantitative real-time PCR analysis validated the microarray expression results for five out of seven genes tested. The functional annotation analyses revealed a number of genes, processes and pathways with putative involvement in chicken growth and performance, while reinforcing the immune status of animals, and fostering the production of long chain fatty acids in broilers supplemented with 5 g of inulin kg−1 diet. As far as we are aware, this is the first report of a microarray based gene expression study on the effect of dietary inulin supplementation, supporting further research on the use of this prebiotic on chicken diets as a useful alternative to antibiotics for improving performance and general immunity in poultry farming, along with a healthier meat lipid profile.Item Muscle lipid composition in bulls from 15 European breeds(Livestock Science, 2014) Sevane Fernández, Natalia; Nute G; Sañudo C; Cortés Gardyn, Óscar; Cañón Ferreras, Francisco Javier; Williams JL; Dunner Boxberger, Helene SusanaCattle meat provides essential nutrients necessary for a balanced diet and health preservation. Besides nutritional quality, consumers' preferences are related to specific attributes such as tenderness, taste and flavour. The present study characterizes the fatty acid composition of beef, which is an important factor in both nutritional and quality values, in 15 European cattle breeds fed a similar diet and reared in five countries (United Kingdom, Denmark, France, Italy and Spain). The effect of possible slight differences on diet composition which might have occurred between countries were included in the breed effect which confounds country, diet, slaughter house and slaughter day as all individuals of a same breed were managed simultaneously. The wide range of breeds studied and the significant differences on lipid profile described here provide a broad characterization of beef meat, which allows giving a better response to the variety of consumers' preferences. Regarding meat health benefits, the groups that stand out are: the double-muscled animals, which displayed lower total fat, lower proportion of saturated (SFA) and monounsaturated (MUFA) fatty acids, and a higher proportion of polyunsaturated (PUFA) fatty acids; and Limousin and Charolais breeds with a significantly higher conversion of 18:3n-3 PUFA to the long chain 22:6n-3 PUFA.