RESUMEN
This study was conceived to evaluate the variations between backfat (BF) and Semimembranosus (SM) muscle fatty acid (FA) composition in 789 heavy pigs and to estimate the genetic and phenotypic correlations and the heritability values of these variations. Most FAs showed a common genetic basis controlling their proportion in SM muscle and BF, while the n-6/n-3 ratio, α-linolenic and erucic acids displayed a genetic control more oriented towards tissue-specific molecular pathways. All variations between the FA composition of BF and SM muscle showed low-to-medium heritability values, suggesting that there are also genetic mechanisms capable of differentiating the deposition of FAs in BF from those in SM muscle. This result implies that a better knowledge of the genes differentiating the FA composition of BF and SM muscle could provide new tools allowing to select, in a partially independent manner, the FA composition of muscle and subcutaneous fat.
Asunto(s)
Ácidos Grasos , Músculos Isquiosurales , Tejido Adiposo/metabolismo , Animales , Composición Corporal/genética , Ácidos Grasos/metabolismo , Regulación de la Expresión Génica , Músculos Isquiosurales/metabolismo , Carne/análisis , Músculo Esquelético/metabolismo , Grasa Subcutánea/metabolismo , Porcinos/genéticaRESUMEN
This study aimed to describe the multivariate structure of Semimembranosus muscle and backfat fatty acid (FA) composition in 798 Italian Large White heavy pigs and to investigate the effects of environmental factors and carcass characteristics on FA variations. The total FA variability in muscle and backfat was characterized by a negative correlation between saturated and polyunsaturated FAs, which strongly depended on the carcass adiposity. Slaughtering season was also relevant, with pigs slaughtered in autumn having more n-6 FAs and eicosadienoic acid in backfat, while pigs slaughtered in winter displayed more saturated FAs. Regarding Semimembranosus muscle, pigs with heavier belly cuts and slaughtered in autumn had higher proportions of cis-vaccenic and palmitoleic acids, while those slaughtered in summer had more saturated FAs. Slaughtering season emerged as a relevant factor shaping both backfat and muscle FA composition, indicating that more studies and attention should be paid to environmental factors, which may have effects on FA metabolism and deposition in finishing pigs.
Asunto(s)
Tejido Adiposo/química , Ácidos Grasos/análisis , Músculos Isquiosurales/química , Carne de Cerdo/análisis , Animales , Femenino , Masculino , Estaciones del Año , Sus scrofaRESUMEN
In the European Community, conformation and fat cover of bovine carcasses is assessed using the SEUROP grading system. In this study we pursued the development of an application software (App) based on Visual Image Analysis, useful for SEUROP and Fat Cover grading of bovine carcasses using a smartphone. The App was trained using 500 bovine carcasses. Carcass conformation and Fat Cover classes were assessed in parallel by expert evaluators and by App. Overall, a high correspondence was found between the measurements of carcasses parameters by operators and by the App, as high as 84.2% for SEUROP and 86.4% for the Fat Cover. In the 15.8% of samples with discordant SEUROP evaluation, and in the 13.6% of samples with discordant Fat Cover evaluation, the operators' and App measurements deviated by only one class. All values also aligned with the requirements expected by the current legislation for the use of automated and/or semi-automated systems able to determine the market value of carcasses.
Asunto(s)
Tejido Adiposo/anatomía & histología , Procesamiento de Imagen Asistido por Computador/métodos , Carne Roja/análisis , Animales , Composición Corporal , Bovinos , Unión Europea , Carne Roja/normasRESUMEN
The aim of the research reported in this paper was to evaluate plasma concentrations of energy, oxidative and inflammatory biomarkers of Simmental (sire) × Holstein (dam) crossbred cows, in comparison with the two parental breeds during the peripartal and early lactation periods and to estimate the effects of heterosis for these traits. Thirty-three animals, managed under the same conditions, 8 Simmental (SI), 9 Holstein (HO) and 16 crossbred (CR) cows were enrolled in this study. Glucose, non-esterified fatty acids (NEFA), ß-hydroxybutyrate (BHB), total bilirubin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), creatine kinase (CK), total protein, albumin, creatinine and urea were determined in blood sampled at six different time points (30 ± 3 and 15 ± 3 d before the expected calving date, at calving and 15, 30 and 60 d after calving). Furthermore, derived reactive oxygen metabolites (d-ROMs), biological antioxidant potential (BAP), interleukin-6 (IL-6), haptoglobin (Hp) and serum amyloid A protein (SAA) were determined to evaluate inflammatory and oxidative status. Results showed that the CR group had significantly lower average values of glucose and NEFA when compared to HO group; signifcantly lower values of urea than SI group and significantly higher values of creatinine than HO. Furthermore, CR cows showed the lowest average value of d-ROMs with respect to SI and HO parental breeds. Finally, the average value of haptoglobin was significantly lower in CR and HO groups, when compared to SI group. As for the heterosis we found the highest (positive) percentage for CK (98%) and BAP (47%) and the lowest (negative) percentage for OSi (-75%) and d-ROMs (-39%). A negative percentage was also found for the glucose (-11%) and NEFA (-20%) toward the Simmental parental breed. Our results suggest a different response among the three genetic groups during the peripartal and early lactation periods. In particular, CR and SI cows seem more adaptable regarding energy metabolism and oxidative status. Heterosis led to a positive effect on those parameters in Simmental (sire) × Holstein (dam) crossbred cows F1 population (50% Simmental and 50% Holstein).
Asunto(s)
Bovinos/genética , Metabolismo Energético/genética , Hibridación Genética , Lactancia/genética , Estrés Oxidativo/genética , Periodo Periparto/genética , Animales , Biomarcadores/sangre , Enfermedades de los Bovinos/sangre , Metabolismo Energético/fisiología , Femenino , Vigor Híbrido/fisiología , Inflamación/sangre , Inflamación/veterinaria , Lactancia/sangre , Estrés Oxidativo/fisiología , Periodo Periparto/sangre , Especificidad de la EspecieRESUMEN
Interleukin 8 (IL8) is a major mediator of the innate immune response. Polymorphisms in this gene are associated with susceptibility to inflammatory disease in humans. Two major promoter polymorphic haplotypes (IL8-h1 and IL8-h2) segregating in cattle populations have shown a significant effect on the immune response profile in calves but their implications for transition cow immunity have not been established. The aims of this study were to assess functional relevance of the IL8 haplotypes on the immunological traits of periparturient cows (nâ¯=â¯32) belonging to three genetic groups: Holstein (HO), Simmental (SI) and their crosses (CR) and to evaluate the frequency of IL8 haplotypes in the HO (dairy) and SI (dual purpose) pure breeds. IL8 haplotypes showed a significant effect on circulating number of both T helper lymphocytes (Pâ¯=â¯0.0133) and T cytotoxic lymphocytes (Pâ¯=â¯0.0024). Differences in percentage of CD14+ monocytes and T lymphocyte subsets were found between haplotype groups at different time points. Plasma concentrations of Serum Amyloid A (SAA) and Haptoglobin (Hp) were enhanced at calving in IL8-h2 (Pâ¯=â¯0.0019, Pâ¯=â¯0.0029) and IL8-het (Pâ¯=â¯0.050 and Pâ¯=â¯0.052) respectively, compared with IL8-h1 cows. In contrast, significantly lower levels of reactive oxygen metabolites (d-ROMs) activation were identified in IL8-h2 and IL8-het cows after calving compared with IL8-h1 cows. Furthermore, genotyping results showed that SI cows have a high frequency of the homozygous IL8-h2 haplotype compared to the HO cows (87.5 % vs 40 %) which reflects the different selective pressure between the two pure breeds. In conclusion, our preliminary data suggests that IL8 promoter haplotype is associated with significant and dynamic changes in immunological traits during peripartum and early lactation period. Future work will focus on a more comprehensive assessment of immune changes in additional cows.
Asunto(s)
Bovinos/genética , Bovinos/inmunología , Interleucina-8/genética , Periodo Periparto/sangre , Animales , Antígenos CD/genética , Antígenos CD/metabolismo , Femenino , Regulación de la Expresión Génica , Homocigoto , Periodo Periparto/inmunologíaRESUMEN
The Maremmana cattle is an ancient Podolian-derived Italian breed raised in semi-wild conditions with distinctive morphological and adaptive traits. The aim of this study was to detect potential selection signatures in Maremmana using medium-density single nucleotide polymorphism array. Putative selection signatures were investigated combining three statistical approaches designed to quantify the excess of haplotype homozygosity either within (integrated haplotype score, iHS) or among pairs of populations (Rsb and XP-EHH), and contrasting the Maremmana with a single reference population composed of a pool of seven Podolian-derived Italian breeds. Overall, the three haplotype-based analyses revealed selection signatures distributed over 19 genomic regions. Of these, six relevant candidate regions were identified by at least two approaches. We found genomic signatures of selective sweeps spanning genes related to mitochondrial function, muscle development, growth, and meat traits (SCIN, THSD7A, ETV1, UCHL1, and MYOD1), which reflects the different breeding schemes between Maremmana (semi-wild conditions) and the other Podolian-derived Italian breeds (semi-extensive). We also identified several genes linked to Maremmana adaptation to the environment of the western-central part of Italy, known to be hyperendemic for malaria and other tick-borne diseases. These include several chemokine (C-C motif) ligand genes crucially involved in both innate and adaptive immune responses to intracellular parasite infections and other genes playing key roles in pulmonary disease (HEATR9, MMP28, and ASIC2) or strongly associated with malaria resistance/susceptibility (AP2B1). Our results provide a glimpse into diverse selection signatures in Maremmana cattle and can be used to enhance our understanding of the genomic basis of environmental adaptation in cattle.
RESUMEN
The amount and quality of covering adipose tissue affect the suitability of hind legs for the production of high-quality seasoned hams. To date, no studies exist on the correlation between EUROP carcass classification and backfat fatty acid (FA) composition in heavy pigs used for dry-cured hams. A sample of 898 Italian Large White heavy pigs was used to verify the relationship between carcass classification based on lean meat percentage and backfat FA composition. A Canonical Discriminant Analysis (CDA) was used to verify the power of individual FA and FA categories in discriminating among EUROP classes. The results proved that saturated FAs (i.e. palmitic, stearic and arachidic acids) and the n-6 polyunsaturated FAs have the highest discriminating power, thus permitting to differentiate among E, U, R, O carcass classes. For the first time, this work demonstrates the relationship between EUROP pig carcass grading, which is only based on an estimate of the percentage of lean meat, and backfat FA composition.
Asunto(s)
Tejido Adiposo/química , Ácidos Grasos/análisis , Carne de Cerdo/normas , Animales , Femenino , Masculino , Carne de Cerdo/análisis , Sus scrofaRESUMEN
Semi-feral local livestock populations, like Maremmana cattle, are the object of renewed interest for the conservation of biological diversity and the preservation and exploitation of unique and potentially relevant genetic material. The aim of this study was to estimate genetic diversity parameters in semi-feral Maremmana cattle using both pedigree- and genomic-based approaches (FIS and FROH), and to detect regions of homozygosity (ROH) and heterozygosity (ROHet) in the genome. The average heterozygosity estimates were in the range reported for other cattle breeds (HE=0.261, HO=0.274). Pedigree-based average inbreeding (F) was estimated at 4.9%. The correlation was low between F and genomic-based approaches (r=0.03 with FIS, r=0.21 with FROH), while it was higher between FIS and FROH (r=0.78). The low correlation between F and FROH coefficients may be the result of the limited pedigree depth available for the animals involved in this study. The ROH islands identified in Maremmana cattle included candidate genes associated with climate adaptation, carcass traits or the regulation of body weight, fat and energy metabolism. The ROHet islands contained candidate genes associated with nematode resistance and reproduction traits in livestock. The results of this study confirm that genome-based measures like FROH may be useful estimators of individual autozygosity, and may provide insights on pedigree-based inbreeding estimates in cases when animals' pedigree data are unavailable, thus providing a more detailed picture of the genetic diversity.
RESUMEN
The experiment described in this research communication aimed to compare the immunological traits of Simmental (sire) × Holstein (dam) crossbred cows with the two parental breeds in the peripartum and early lactation period and to estimate the effects of heterosis for these traits. Flow cytometric evaluation of leukocyte subpopulations was assessed in 16 Crossbred (CR), 8 Holstein (HO) and 8 Simmental (SI) cows. Estimated average values of innate and adaptive immune cells showed statistically significant differences between the crossbred cows and parental breeds. Interestingly, the most relevant differences between the three groups related to adaptive immune cells. In particular, the CR cows showed a lower percentage of CD3+ T lymphocytes compared with the SI group (P < 0.0001) and the highest proportions of CD21+ B lymphocytes among the three groups (P < 0.0001). Furthermore, we found the highest positive value of heterosis for the CD21+ B lymphocytes (7.0) and the lowest negative value for CD3+ T lymphocytes (-4.8) in F1 derived population. It seems reasonable to believe that these differences could affect immune function of crossbred cows.
Asunto(s)
Bovinos/genética , Bovinos/inmunología , Cruzamientos Genéticos , Inmunidad Innata/genética , Lactancia/genética , Periodo Periparto/genética , Inmunidad Adaptativa/genética , Inmunidad Adaptativa/fisiología , Animales , Bovinos/fisiología , Femenino , Inmunidad Celular/genética , Inmunidad Celular/fisiología , Inmunidad Innata/fisiología , Lactancia/fisiología , Periodo Periparto/inmunología , Periodo Periparto/fisiología , EmbarazoRESUMEN
New approaches are needed to improve the sustainability of feed production and utilization by ruminants. Promising approaches include increased use of buffaloes for more sustainable milk production, and arbuscular mycorrhizal fungi (AMF) to reduce crop production input needs. However, studies assessing the effect of crops grown in the presence of AMF on rumen microbial utilization are limited. Based on current knowledge, we hypothesized that maize grain grown on AMF-inoculated soil affected ruminal fermentation and microbiota, and that this effect differed between buffalo and cattle. A dietary cross-over study (four weeks per diet) was conducted using rumen-cannulated cattle (n = 5) and buffalo (n = 6) to assess the effect of maize grain (3.9% (w/v) of diet) grown on soil with or without AMF (15 kg/ha) on ruminal fermentation and microbiota. Production of maize on AMF-treated soil did not affect any of the assessed ruminal fermentation parameters, microbial concentrations, or prokaryotic community composition (using prokaryotic 16S rRNA gene sequence analysis). In contrast, host type had numerous effects. Protozoal counts, lactate, total VFA and isobutyrate, were significantly higher in buffaloes compared to cattle. Conversely, butyrate was significantly lower in buffaloes than in cattle. Host type explained 9.3% of the total variation in prokaryotic community composition, and relative abundance of nine amplicon sequence variants significantly differed between host types. These findings indicate that AMF treatment of maize crops has no detrimental impact on the value of the resulting maize grains as a ruminant feed, and provides additional insight into rumen-based differences between cattle and buffalo.
RESUMEN
Flow cytometry is a powerful technology used in many fields of cell biology. It is also used as a routine method to count somatic cells in milk and to characterize bovine milk leukocytes. In this study, we used flow cytometry to simultaneously assess the viability, the percentage of the single subsets of leukocytes and to quantify the expression of CD11b, an immunological marker of cell activation status. Immunological markers were then related with on farm recorded parameters as milk electrical conductivity (MEC) and average milk flow rate (MFR). Composite milk samples were collected from 43 cows, nine of which had naturally infected udders and 34 of which had no infected udders. First, the milk samples were classified according to bacteriological test in positive and negative. The results showed that the negative samples to bacteriological test had: (i) significantly higher percentages of live lymphocytes; (ii) significantly lower percentages of CD11b+ leukocytes; (iii) significantly lower MEC and higher MFR values. Then, samples were classified in three groups according to somatic cell count (SCC): Group A (n = 15), samples with SCC ≤ 100,000 cells/mL, all negative to bacteriological analysis; Group B (n = 11), samples with 100,000 < SCC < 300,000 cells/m, with four samples positive to bacteriological analysis; Group C (n = 17), samples with SCC ≥ 300,000 cell/mL with five samples positive to bacteriological analysis. Multivariate discriminant analysis was used to verify which flow cytometry immunological markers and on farm recorded parameters could better discriminate among the different groups of SCCs. Linear discriminant analysis (LDA) indicated that 5 of the 10 parameters could best be used to reveal the differences between positive and negative samples among the considered groups of SCCs. Furthermore, the Canonical discriminant analysis (CDA) indicated that composite milk samples with different SCC and infection status were clearly separated from each other in a two-dimensional space. In conclusion, the study highlighted that: (1) the conventional flow cytometry analysis applied on milk samples is a useful tool to investigate immunological parameters as potential indicators of udder health; (2) the combined evaluation of live milk leukocytes and recorded farm parameters could be useful to assess udder health status in dairy cows. The results obtained from this pilot study on few data require new and larger trials to be confirmed.
RESUMEN
Semimembranosus muscle samples from 795 Large White heavy pigs were used to determine their intramuscular fatty acid composition and to estimate the heritability and the genetic correlations of these traits. Muscle fatty acids showed heritability estimates of low-to-moderate magnitude, ranging from 0.157 for total fatty acids to 0.237 for docosahexaenoic acid. Only small differences in heritability appeared among fatty acids based on their chain length, saturation and double bond position. Omega-6 polyunsaturated fatty acids showed positive genetic correlations with carcass lean % (0.563 ± 0.005) and loin thickness (0.438 ± 0.005) while being negatively related to backfat thickness measured both by calibre (-0.225 ± 0.008) and Fat-O-Meat'er (FOM) apparatus (-0.603 ± 0.004). Interestingly, the monounsaturated fatty acid class was not correlated with carcass measures and presented only a weak positive genetic correlation with intramuscular fat (0.145 ± 0.002). This result suggests that in heavy pig breeds monounsaturated fatty acids in muscle could be selected for without interfering with carcass traits.
Asunto(s)
Ácidos Grasos/genética , Carne de Cerdo/normas , Sus scrofa/genética , Tejido Adiposo , Animales , Composición Corporal/genética , Ácidos Grasos/análisis , Femenino , Masculino , Músculo Esquelético/química , Carne de Cerdo/análisisRESUMEN
BACKGROUND: Since goat was domesticated 10,000 years ago, many factors have contributed to the differentiation of goat breeds and these are classified mainly into two types: (i) adaptation to different breeding systems and/or purposes and (ii) adaptation to different environments. As a result, approximately 600 goat breeds have developed worldwide; they differ considerably from one another in terms of phenotypic characteristics and are adapted to a wide range of climatic conditions. In this work, we analyzed the AdaptMap goat dataset, which is composed of data from more than 3000 animals collected worldwide and genotyped with the CaprineSNP50 BeadChip. These animals were partitioned into groups based on geographical area, production uses, available records on solid coat color and environmental variables including the sampling geographical coordinates, to investigate the role of natural and/or artificial selection in shaping the genome of goat breeds. RESULTS: Several signatures of selection on different chromosomal regions were detected across the different breeds, sub-geographical clusters, phenotypic and climatic groups. These regions contain genes that are involved in important biological processes, such as milk-, meat- or fiber-related production, coat color, glucose pathway, oxidative stress response, size, and circadian clock differences. Our results confirm previous findings in other species on adaptation to extreme environments and human purposes and provide new genes that could explain some of the differences between goat breeds according to their geographical distribution and adaptation to different environments. CONCLUSIONS: These analyses of signatures of selection provide a comprehensive first picture of the global domestication process and adaptation of goat breeds and highlight possible genes that may have contributed to the differentiation of this species worldwide.
Asunto(s)
Aclimatación , Domesticación , Cabras/genética , Selección Genética , Animales , Cruzamiento/métodos , Variación Genética , Genoma , Genotipo , Cabras/fisiología , Fenotipo , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADNRESUMEN
BACKGROUND: Goat populations that are characterized within the AdaptMap project cover a large part of the worldwide distribution of this species and provide the opportunity to assess their diversity at a global scale. We analysed genome-wide 50 K single nucleotide polymorphism (SNP) data from 144 populations to describe the global patterns of molecular variation, compare them to those observed in other livestock species, and identify the drivers that led to the current distribution of goats. RESULTS: A high degree of genetic variability exists among the goat populations studied. Our results highlight a strong partitioning of molecular diversity between and within continents. Three major gene pools correspond to goats from Europe, Africa and West Asia. Dissection of sub-structures disclosed regional gene pools, which reflect the main post-domestication migration routes. We also identified several exchanges, mainly in African populations, and which often involve admixed and cosmopolitan breeds. Extensive gene flow has taken place within specific areas (e.g., south Europe, Morocco and Mali-Burkina Faso-Nigeria), whereas elsewhere isolation due to geographical barriers (e.g., seas or mountains) or human management has decreased local gene flows. CONCLUSIONS: After domestication in the Fertile Crescent in the early Neolithic era (ca. 12,000 YBP), domestic goats that already carried differentiated gene pools spread to Europe, Africa and Asia. The spread of these populations determined the major genomic background of the continental populations, which currently have a more marked subdivision than that observed in other ruminant livestock species. Subsequently, further diversification occurred at the regional level due to geographical and reproductive isolation, which was accompanied by additional migrations and/or importations, the traces of which are still detectable today. The effects of breed formation were clearly detected, particularly in Central and North Europe. Overall, our results highlight a remarkable diversity that occurs at the global scale and is locally partitioned and often affected by introgression from cosmopolitan breeds. These findings support the importance of long-term preservation of goat diversity, and provide a useful framework for investigating adaptive introgression, directing genetic improvement and choosing breeding targets.
Asunto(s)
Migración Animal , Domesticación , Flujo Génico , Cabras/genética , Polimorfismo de Nucleótido Simple , África , Animales , Asia , Cruzamiento , Europa (Continente) , Variación Genética , Genoma , Genotipo , Cabras/fisiología , FilogeografíaRESUMEN
BACKGROUND: In the last 50 years, the diversity of cattle breeds has experienced a severe contraction. However, in spite of the growing diffusion of cosmopolite specialized breeds, several local cattle breeds are still farmed in Italy. Genetic characterization of breeds represents an essential step to guide decisions in the management of farm animal genetic resources. The aim of this work was to provide a high-resolution representation of the genome-wide diversity and population structure of Italian local cattle breeds using a medium-density single nucleotide polymorphism (SNP) array. RESULTS: After quality control filtering, the dataset included 31,013 SNPs for 800 samples from 32 breeds. Our results on the genetic diversity of these breeds agree largely with their recorded history. We observed a low level of genetic diversity, which together with the small size of the effective populations, confirmed that several breeds are threatened with extinction. According to the analysis of runs of homozygosity, evidence of recent inbreeding was strong in some local breeds, such as Garfagnina, Mucca Pisana and Pontremolese. Patterns of genetic differentiation, shared ancestry, admixture events, and the phylogenetic tree, all suggest the presence of gene flow, in particular among breeds that originate from the same geographical area, such as the Sicilian breeds. In spite of the complex admixture events that most Italian cattle breeds have experienced, they have preserved distinctive characteristics and can be clearly discriminated, which is probably due to differences in genetic origin, environment, genetic isolation and inbreeding. CONCLUSIONS: This study is the first exhaustive genome-wide analysis of the diversity of Italian cattle breeds. The results are of significant importance because they will help design and implement conservation strategies. Indeed, efforts to maintain genetic diversity in these breeds are needed. Improvement of systems to record and monitor inbreeding in these breeds may contribute to their in situ conservation and, in view of this, the availability of genomic data is a fundamental resource.
Asunto(s)
Animales Domésticos/genética , Conservación de los Recursos Naturales/métodos , Variación Genética , Polimorfismo de Nucleótido Simple , Animales , Cruzamiento , Bovinos , Evolución Molecular , Genética de Población , Estudio de Asociación del Genoma Completo , Desequilibrio de Ligamiento , Filogenia , Densidad de PoblaciónRESUMEN
The economic evaluation of farm animal genetic resources plays a key role in developing conservation programs. However, to date, the link between diversity as assessed by neutral genetic markers and the functional diversity is not yet understood. Two genome-wide comparisons, using over 44,000 Single Nucleotide Polymorphisms, identified the markers with the highest difference in allele frequency between the Alpago endangered breed and two clusters, composed of four specialized dairy sheep, and four meat breeds respectively. The genes in proximity of these markers were mapped to known pathways of the Gene Ontology to determine which ones were most represented. Our results indicated that the differences of the Alpago breed from the more productive sheep rely upon genes involved in cellular defense and repair mechanisms. A higher number of different markers and genes were detected in the comparison with the specialized dairy sheep. These genes play a role in complex biological processes: metabolic, homeostatic, neurological system, and macromolecular organization; such processes may possibly explain the evolution of gene function as a result of selection to improve milk yield.
Asunto(s)
Mapeo Cromosómico , Especies en Peligro de Extinción , Estudios de Asociación Genética , Variación Genética/genética , Genoma/genética , Ovinos/genética , Animales , Cruzamiento , Marcadores Genéticos/genética , Genotipo , Polimorfismo de Nucleótido Simple/genética , Especificidad de la EspecieRESUMEN
Leptin has a pleiotropic effect on regulating appetite, energy metabolism, growth, reproduction, body composition and immunity. This property supports leptin and its receptor as candidate genes for evaluating genetic polymorphisms to associate with growth, milk yield and other economic traits. The aim of this study is to characterize the leptin receptor gene in Bubalus bubalis, to identify single-nucleotide polymorphism (SNP) sites in different coding and non-coding regions and to analyse potential associations between SNPs identified and the body measurements traits of growing buffalo heifers. A group of 64 animals were genotyped by direct sequencing and twenty-eight SNPs were detected. A sequence analysis revealed the presence of nine interesting SNPs in gene sequence. The association analysis of polymorphisms with the body measurements traits of growing buffalo heifers shows significant statistical effects on chest depth and sacrum height. Therefore according to the results obtained from this study, the leptin receptor gene appears to have potential effects on the body measurement traits of Bubalus bubalis.
Asunto(s)
Huesos/anatomía & histología , Búfalos/genética , Polimorfismo de Nucleótido Simple , Receptores de Leptina/genética , Región de Flanqueo 3'/genética , Alelos , Animales , Pesos y Medidas Corporales/métodos , Búfalos/crecimiento & desarrollo , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Desequilibrio de Ligamiento , Análisis de Regresión , Análisis de Secuencia de ADNRESUMEN
BACKGROUND: Identification of QTLs for important phenotypic traits, through the use of medium-density genome-wide SNP panels, is one of the most challenging areas in animal genetics, for preventing the time-consuming direct sequencing of putative candidate genes, when searching for the mutations that affect the trait. Appropriate statistical analyses allow the identification of genomic regions associated with the investigated trait in the genotyped population. METHODS: The selective genotyping technique was applied to 1000 genotyped animals with known phenotype. Sliding windows composed of five consecutive SNPs were created for each chromosome; we assumed that the QTLs were encoded by the windows showing the highest difference in the frequency of the same alleles between the most divergent productive groups (the two tails of the distribution). RESULTS: Ten windows affected at least one trait. For five of these windows, the highest and significant effect was given by one only SNP, which could therefore be taken as the QTL itself. CONCLUSIONS: In this study we proposed a simple method to identify genomic regions associated to the phenotype under study. The identification of the DNA region is the first step to search for the mutation which is really responsible for the trait variability, through the direct sequencing of the genome regions that encode the QTL.
RESUMEN
BACKGROUND: Identification of genomic regions that have been targets of selection for phenotypic traits is one of the most challenging areas of research in animal genetics, particularly in livestock where few annotated genes are available. In this study a genome-wide scan using the Illumina SNP50K Beadchip was performed in the attempt to identify genomic regions associated with milk productivity in sheep. The ovine genomic regions encoding putative candidate genes were compared with the corresponding areas in Bos taurus, as the taurine genome is better annotated. RESULTS: A total of 100 dairy sheep were genotyped on the Illumina OvineSNP50K Beadchip. The Fisher's exact test of significance of differences of allele frequency between each pair of the two tails of the distribution of top/worse milk yielders was performed for each marker. The genomic regions where highly divergent milk yielders showed different allele frequencies at consecutive markers was extracted from the OAR v3.1 Ovine (Texel) Genome Assembly, and was compared to the corresponding areas in Bos taurus, allowing the detection of two genes, the Palmdelphin and the Ring finger protein 145. These genes encoded non-synonymous mutations correlated with the marker alleles. CONCLUSION: The innovation of this study was to show that the DNA genotyping with the Illumina SNP50K Beadchip allowed to detect genes, and mutations in the genes, which have not yet been annotated in the livestock under investigation.