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Publications (124)
Citation: Carracelas B., Peraza P., Vera B., Llambi S., Ciappesoni G. (2025): Genetic diversity and population structure of a Creole sheep flock from Uruguay. Czech J. Animl. Sci., 70: 173-182. Abstract: Since 2020, the National Agricultural Research Institute (INIA) has conserved a Creole sheep flock at INIA Las Brujas. This study genetically char...
This study involved clinical and genetic analysis of 15 female dogs with mammary tumors. Fourteen healthy female dogs were used as controls, and blood samples were collected from them for genetic analysis. Polymorphisms located in a splicing region of the largest exon of the BRCA1 gene were studied, both at the population and evolutionary level, in...
Bovine spongiform encephalopathy (BSE) is a transmissible progressive neurodegenerative disease characterized by the accumulation of a pathological isoform (PrpSC) of the cellular prion protein (PrpC) in the brain of cattle. Two insertion/deletion polymorphisms in the PRNP gene (23bp in the promoter and 12bp in intron 1) have been associated with r...
In this work it was examined the concordance between clinical staging and histopathological staging of mammary tumors in 32 female dogs. It was observed that the average age of presentation of the pathology was 9 years (ranged from 6 to 12 years). The most affected mammary glands were the caudal abdominal and the inguinal, 20 out of 32 female dogs...
Experiments I and II of this thesis consisted of the optimization of real-time PCR-HRM/Melting techniques for the detection of complex vertebral malformation (CVM, OMIA 001340-9913) and cholesterol deficiency (CD, OMIA 001965-9913), as well as to determine their existence in the representative sample of Holstein Friesian cows (n = 279 for CVM; n =...
In non-ovariectomized female dogs, breast tumors are the most frequent neoplasms. There are several points where canine and human breast tumors have clinical and molecular similarities. BRCA1 and BRCA2 genes have been extensively studied in both species. Regarding dogs, alterations in BRCA1 and BRCA2 have been identified in the development of breas...
The purpose of this study was to optimize a real-time PCR-melting analysis for reliable and economical detection of the 7.5 Kb mutant insert of the BoERVK bovine transposable element in exon 5 of the Apolipoprotein B (APOB) gene, which causes cholesterol deficiency — CD — (OMIA 001965-9913). This technique was also used to perform a preliminary mol...
Brachyspina syndrome (BS) is a rare monogenic autosomal recessive hereditary disorder of the Holstein Fresian breed caused by a deletion of 3.3Kb in the Fanconi anemia complementation group I (FANCI) gene on BTA-21, which leads to a frame-shift and premature stop codon. Some of the consequences of BS are the reduction of the fertility rate and milk...
Genetic disorders in Holstein cattle are a health problem that has grown worldwide in recent years, compromising the sustainability of modern dairy production. In Uruguay, Holstein-based milk production is one of the most important sectors of the country’s economy, but high levels of inbreeding have decreased the breed’s fertility in recent decades...
Se evaluó la calidad y capacidad fecundante in vitro(FIV) de semen de un banco de bovinos Criollo Uruguayo. Semen de 8 toros, diluido en Triladyl® (T) y Andromed® (A) (con/sin yema de huevo), se evaluó por CASA: concentración, motilidad, cinética, morfología y test hiposmótico. Alas 2 horas se repitió motilidad ycinética. Se aplicó el test T para...
El síndrome de braquiespina es una condición genética de la raza Holstein, detectada en el año 2006. Es causado por una deleción de 3.3 Kb en el gen FANCI localizado en el cromosoma bovino 21. La mutación fue identificada en poblaciones de Holstein de Europa, América del Norte y Asia. Dada la importancia económica del defecto y su amplia distribuci...
To know the genetic situation of the Pampa Rocha, Celta, Bizaro Portuguese, Duroc, Iberian Extremeño and Iberian Andalusian porcine populations, their genetic structure and population dynamics were studied on the IGF2 and MC4R genes, which determine meat characteristics and quality. The degree of genetic variability (He = 0.2511 in Pampa Rocha; 0.0...
Zusammenfassung
Beschreibung und Operation eines Falles von lateraler Polydaktylie bei einem Pferd.
Polydaktylie bedeutet das Vorhandensein einer oder mehrerer zusätzlicher Zehen. Die Ätiologie beim Pferd ist noch nicht eindeutig geklärt. Vor allem wurden beim Pferd mediale zusätzliche Zehen an den Vodergliedmaßen beschrieben, während lateral bisla...
We examined the effect of lipid content in the diet on the transcriptome of the Longissimus dorsi muscle in pigs. Our objective was to examine changes at the molecular level affecting economically relevant meat quality characteristics such as intramuscular fat deposition and fatty acid profile. The treatments consisted of isoproteic and isoenergeti...
Objective. The analysis of selection markers allows to obtain information about the evolutive story of a particular breed or line and allows also to evaluate the usefulness of those markers for breeding programs. We have analyzed SNPs in four genes of the creole pig breed Pampa Rocha and we have compared their allelic frequencies with the allelic f...
Objetivo. El análisis de marcadores de selección permite obtener datos de la vida evolutiva de una raza o línea y permite también evaluar la conveniencia o no de su uso en programas de mejora genética. Hemos evaluado SNPs en cuatro genes (IGF2, MC4R, PRKAG3 y PEPCK-C), que tienen importantes efectos fenotípicos, en cerdos de la raza Pampa Rocha, un...
The effect of diets with different lipid content was evaluated on variables of meat quality in pigs of local breed Pampa Rocha (Uruguay). Sixteen piglets with an inicial body weight of 14.85 ± 1.93 Kg were used, from weaning (42 days) and up to 77 days of age, . The experimental design was completely randomized blocks with two treatments. The exper...
The widespread use of artificial insemination has allowed the expansion of genetic progress. However, it also brought consequences such as the expansion of lethal hereditary diseases and the increase in inbreeding. The object of this study was to establish a fast and sensitive molecular assay to detect bovine leukocyte adhesion deficiency (BLAD) an...
Cerebellar abiotrophy (CA) is a neurodegenerative disease caused by a mutation in the DNA that affects the Purkinje cells of the cerebellum, mainly causing problems in the balance and coordination of animals. Among the species that are affected is equine, mainly the Arabian breed. In this study we presented the case of an Arabian foal with clinic s...
The objective of this study consisted in a screening of the main hereditary diseases BLAD, DUMPs and Citrullinaemia using the GGP-BovineLDv3 panel in a representative population of Holstein heifers of the eastern area of Uruguay, as well as the analysis of BLAD mutant allele frequency since it was first reported in Uruguay in 2003. DNA was extracte...
This study assessed the effect of bran rice inclusion in the diet on the productive behavior and carcass characteristics of Pampa Rocha piglets. Sixteen animals were used from weaning up to 42 days and 77 days of age, which were housed in boxes in a deep bed system of wheat straw. A randomized complete block design with two treatments and four repl...
Mesenchymal stem cells (MSCs) are of great interest in veterinary medicine due to their potential use in regenerative medicine. The attractive characteristics are the ability to promote tissue regeneration, to immunomodulate and easiness of extraction from adult animals. The objective of the present work was the isolation and in vitro characterizat...
Mesenchymal Stem Cells (MSCs) have attractive characteristics for therapy in animal models and veterinary medicine, due to the capacity of inducing tissue regeneration and immunomodulation. The objective of this study was to evaluate the differences between canine adipose tissue-derived MSCs (AD-MSCs) extracted from subcutaneous (Sc) and visceral (...
Donkey was introduced into the Americas soon after its discovery in the 15th century. However, there is no historical consensus on how they spread across the continent. In a previous study, two distinct genetic pools (Clusters A -Southern part - and B -Northern part of South America and Central America) were identified, with likely confluence in Co...
LV causes one of the most relevant viral diseases of dairy cattle although the most of the infected animals are asymptomatic. There are controversies regarding reproductive losses on infected herds. Our purpose was to evaluate the horizontal transmission of the virus in a group of Holstein heifers confined in a rearing system and to determine the i...
Background
Bovine Leukemia Virus (BLV) produces disorders on the immune system in naturally infected animals, which may counteract the development of immunity after vaccination. The aim of this study was to investigate whether healthy and BLV infected cattle elicited similar humoral responses after foot and mouth disease (FMD) immunization. In a fi...
Deficiency in bovine leukocyte adhesion (BLAD) and arginosuccinate synthase enzyme (Citrullinemia) are autosomal recessive diseases that have been described worldwide in the Holstein breed. The objective of this study was to optimize and implement a methodology of genotyping for the identification of animals carrying the allele causing these diseas...
En el presente libro se recogen los trabajos presentados en el VI Congreso de Medicina Veterinaria y Zootecnia, realizado los días 10, 11 y 12 de diciembre de 2014, en la Universidad Técnica de Cotopaxi (UTC) ubicada en Latacunga, Ecuador. El evento se realizó con el apoyo de la Unidad Académica de Ciencias Agropecuarias y Recursos Naturales, la ca...
J o r n a d a s T é c n i c a s V e t e r i n a r i a s – F a c u l t a d d e V e t e r i n a r i a Efecto de la inclusión de afrechillo de arroz integral en dietas para cerdos Pampa Rocha en un sistema de cama profunda. Los gastos en alimentación representan cerca del 70% de los costos totales de la producción porcina, por lo que cualquier cambio...
This study presents the first insights into the genetic diversity and structure of the American donkey metapopulation. The primary objectives were to detect the main structural features underlying variability among American donkey populations, identify boundaries between differentiated gene pools, and draw the main colonization pathways since the i...
La estructura genética del cerdo criollo ecuatoriano y el análisis de las distancias con otras razas porcinas constituye el objetivo de este trabajo. Se caracterizó un panel de 25 microsatélites. Se calculó la matriz de la distancia genética y se construyó un árbol filogenético. Los resultados de este estudio mostraron un menor distanciamiento entr...
The fields of pharmacogenetics and pharmacogenomics have become increasingly promising regarding the clinical application of genetic data to aid the prevention of adverse reactions. Specific screening tests can predict which animals express the modified proteins or genetic sequences responsible for the adverse effects associated with a drug. Among...
In this study, we genetically characterized the Uruguayan pig breed Pampa Rocha. Genetic variability was assessed by analyzing a panel of 25 microsatellite markers from a sample of 39 individuals. Pampa Rocha pigs showed high genetic variability with observed and expected heterozygosities of 0.583 and 0.603, respectively. The mean number of alleles...
Objective. The objective of this study is to analyze the frequency of mdr1-1 Delta mutation in German Shepherd, Doberman, Border Collie and Greyhound dog breeds in Uruguay. Materials and methods. A total of 95 animals from the four breeds mentioned above were studied. DNA was isolated from blood using potassium acetate with a subsequent degradation...
El cerdo Pampa Rocha (PR) es el recurso zoogenético local de Uruguay que presenta un estado avanzado de caracterización genética y evaluación productiva. Esta raza criolla se encuentra actualmente en estado crítico debido a la disminución del número de pequeños productores dedicados a la crianza de estos cerdos. Sin embargo desde hace años se viene...
The present study aimed to detect BoHV-1 and BoHV-5 latent infections in Uruguayan beef cattle. Trigeminal ganglia (TG) were collected from 62 cattle heads in a slaughterhouse. Viral genomes were detected by a type-differential nested PCR (nPCR) targeting the UL44 gene of BoHV-1 and BoHV- 5. Viral DNA was detected in 64.5% (40/62) of the animals. T...
Little is known about local Criollo pig genetic resources and relationships among the various populations. In this paper, genetic diversity and relationships among 17 Criollo pig populations from 11 American countries were assessed with 24 microsatellite markers. Heterozygosities, F-statistics, and genetic distances were estimated, and multivariate...
Abstract
Legionella pneumophila is the primary cause of the majority of legionellosis diseases (90 %). In this study, an attempt was made to develop methodologies based on molecular biology in order to provide a quick diagnosis of the bacterial presence in water samples of Spain.
A multiplex real-time PCR assay was developed to target the 16S rRNA...
The pig, Sus scrofa, is a foreign species to the American continent. Although pigs originally introduced in the Americas should be related to those from the Iberian Peninsula and Canary islands, the phylogeny of current creole pigs that now populate the continent is likely to be very complex. Because of the extreme climates that America harbors, th...
Legionella pneumophila is the primary cause of the legionellosis diseases (90 %) (Yu et al. in J Infect Dis 186:127-128, 2002; Doleans et al. in J Clin Microbiol 42:458-460, 2004; Den Boer et al. in Clin Microbiol Infect 14:459-466, 2008). In this study, methodologies based on molecular biology were developed in order to provide a quick diagnosis o...
To analyze the genetic variability in two populations of the native canine breed
“Uruguayan Cimarron” from different areas of the country. Materials and methods. DNA
was isolated from 40 animals of the Cimarron breed. Using PCR, 11 RAPD (random amplified
polymorphism of DNA) molecular markers were analyzed. Results. 14.9% of loci were
polymorphic....
This study shows the results of the genetic characterization of 21 donkey populations of 14 countries from Europe (3) and Central and South America (11) associated to the CONBIAND network, in the framework of a collaborative project promoted by the network itself. Since sampled donkeys were not structured among breeds, donkeys from each American co...
RESUMEN Se presenta una revisión sobre enfermedades hereditarias leta-les descritas en nuestro país con énfasis en aquellas que han sido confirmadas por diagnóstico anatomopatológico y molecular. Las enfermedades congénitas y/o hereditarias observadas por el DILAVE para la región Este de nuestro país, se estiman entre un 3% a 9% de morbilidad en el...
The reproductive disorders in domestic animals often are associated with chromosomal abnormalities. In recent years, the study of chromosomal complement of intersexed animals (ie. presence of Y sex chromosome in female-like animals) was supplemented with the development of molecular techniques, allowing the realization of more precise analysis. The...
Para evaluar la variabilidad genética de la raza canina Cimarrón Uruguayo, se analizó la totalidad de la información genealógica disponible (n= 6079) utilizando el programa informático ENDOG v4.5. Los datos recabados sugieren sobrerepresentación de determinados reproductores y pérdida de genotipos fundacionales. La F media para la población de refe...
The Uruguayan Creole cattle genetic reserve, located in the department of Rocha, has a high level of genetic variation, as previous studies using polymorphic markers showed. Cattle from this reserve were taken to commercial farms in the North of Uruguay during the 60'. These animals where used in crosses with commercial breeds (Aberdeen Angus, Here...
Various genetic markers, including microsatellites, have been used to analyze the genetic polymorphism and heterozygosity in canine breeds. In this work, we used nine microsatellite markers to investigate the genetic variability in Cimarron Uruguayo dogs, the only officially recognized native canine breed in Uruguay. DNA from 30 Cimarron Uruguayo d...
Objetive. To analyze the population structure, using microsatellite markers in a sample of “Cimarron Uruguayo” dogs. Materials and methods. Thirty dogs were analyzed in different areas of Uruguay with a set of nine molecular microsatellite markers using PCR. The population structure was analyzed using the free distribution software “Structure’’. Re...
The present study has been realised in the framework of a collaboration project promoted by the CONBIAND Network. The aim of the project is to characterize genetically donkey populations from countries associated to this network, and to compare the results with the six Spanish breeds, in order to establish the phylogenetic relationships between the...
Analizar la estructura poblacional en una muestra de perros “Cimarrón Uruguayo” usando marcadores moleculares tipo microsatélites. Materiales y métodos. Se analizaron treinta caninos de diferentes zonas de Uruguay con un set de nueve marcadores moleculares microsatélites empleando PCR. La estructura poblacional se analizó con el software de distrib...
Para evaluar la variabilidad genética de la raza canina Cimarrón Uruguayo, se analizó la totalidad de la información genealógica disponible (n= 6079) utilizando el programa informático ENDOG v4.5. Los datos recabados sugieren sobrerepresen-tación de determinados reproductores y pérdida de genotipos fundacionales. La F media para la población de ref...
Morphometric data was collected on 859 naturalized swine in Brazil (Piau, Tatu, Nilo, Caruncho, Casco de Burro, Moura, Monteiro and Rabo de Peixe), Colombia (Criolla Zungo, Sanpedreno and Casco de Mula) and Uruguay (Mamellado), both on farm and in published material. Information was collected on breed, sex and age, as well as various morphometric m...
El Síndrome de Estrés Porcino (SEP) es una enfermedad hereditaria causada por una mutación puntual (C T) en el gen que codifica para el receptor de la ryanodina (CRC1). El SEP genera importantes pérdidas económicas en la industria porcina debido a muerte súbita de los animales y/o disminución en la calidad de la carne. Los marcadores moleculares de...
The Robertsonian translocation rob(1;29) is the most important chromosomal abnormality in cattle. It has been demonstrated that carriers of this chromosomal alteration exhibit reduced fertility due to an early embryonic loss. In the present study we analyzed the effects of DNA methylation inhibitor 5-azacytidine (5-aza-C) on metaphase lymphocytes f...
Objective. To analyze the genetic variability in two populations of the native canine breed “Uruguayan Cimarron” from different areas of the country. Materials and methods. DNA was isolated from 40 animals of the Cimarron breed. Using PCR, 11 RAPD (random amplified polymorphism of DNA) molecular markers were analyzed. Results. 14.9% of loci were po...
Objetivo. Analizar la variabilidad genética en dos poblaciones de caninos de la raza autóctona “Cimarrón uruguayo” provenientes de distintas zonas del País. Materiales y métodos. Se aisló ADN de 40 animales de la raza Cimarrón. Mediante la técnica de PCR se analizaron 11 marcadores moleculares RAPD (amplificación al azar de ADN polimórfico). Result...
Objective: To analyze the genetic variability in two populations of the native canine breed " Uruguayan Cimarron" from different areas of the country. Materials and methods: DNA was isolated from 40 animals of the Cimarron breed. Using PCR, 11 RAPD (random amplified polymorphism of DNA) molecular markers were analyzed. Results: 14.9% of loci were p...
Fragile sites (FS) are chromosomal regions where the normal compactation of chromatine is not observed. FRAXA (Fra Xq27.3, X sexual chromosome) is one of the most studied FS in humans. FRAXA is an expansion of the trinucleotide CGG located in the gene FMR-1. In cattle, sites of chromosomal fragility were reported in BTAX, associated with different...
Bovine presents a complex genome due to high number of repetitive sequences involved in macro and micro-rearrangements that are essential in the bovids evolution. However, it has a morphologically simple karyotype, with acrocentric autosomes (2n=60,XX and 60,XY). The Robertsonian translocation rob(1;29), which produces embryo mortality, has been wi...
La azacitidina (5-azaC) es una sustancia que actúa inhibiendo la metilación del ADN, es utilizada en experiencias de clonación, transgénesis por transferencia nuclear y estudios de fragilidad cromosómica. Se ha observado la manifestación de diversas patologías en animales domésticos nacidos de experiencias de clonación. Ellas estarían asociadas a u...
Objetivo. Analizar la variabilidad genética en dos poblaciones de caninos de la raza autóctona "Cimarrón uruguayo" provenientes de distintas zonas del País. Materiales y métodos. Se aisló ADN de 40 animales de la raza Cimarrón. Mediante la técnica de PCR se analizaron 11 marcadores moleculares RAPD (amplificación al azar de ADN polimórfico). Result...
Azacytidine (5-azaC) is a substance that inhibits the metilation of DNA, being used in cloning experiments, nuclear transference transgenesis and in chromosomal fragility studies. The manifestation of diverse pathologies has been observed in domestic animals born from cloning experiments. These would be associated to an incorrect nuclear reprograma...
The Robertsonian translocation (rob1; 29) is widely spread in commercial breeds and specially in genetic reserve of American Creole cattle. It is also described a delay on embryo development in front of normal ones. The action of 5-aza-C, as an hypomethylated agent, could permitted to decondensate the constitutive or facultative heterochromatin. In...
Los sitios frágiles comunes se definen como regiones del cromosoma eucariota con tendencia a sufrir fracturas o quiebres frente a sustancias inductoras adicionadas al medio de cultivo linfocitario como la 5’azacitidina. Actualmente en humanos y animales domésticos las regiones de fragilidad cromosómica han sido correlacionadas con heredopatologías...
Common fragile sites are regions of the eukaryotic chromosome with a tendency to show breaks or gaps when inductors such as 5′azacytidine are added to the lymphocyte culture media. Recently, chromosome fragile sites have been correlated with hereditary defects affecting humans and domestic animals (mental retardation syndrome, parakeratosis, baldy...
Fragile sites (FS) seem to play a role in genome instability and may be involved in karyotype evolution and chromosome aberrations. The majority of common fragile sites are induced by aphidicolin. Aphidicolin was used at two different concentrations (0.15 and 0.30 microM) to study the occurrence of FS in the cattle karyotype. In this paper, a map o...
The Primed In Situ labelling (PRINS) method is based on a primer-mediated DNA synthesis. It starts with the annealing of an oligonucleotide DNA primer adjacent to the DNA region of interest. This annealed oligonucleotide serves as a primer for Taq DNA polymerase. Taq polymerase incorporates the four nucleotides dATP, dGTP, dUTP, dCTP, of which the...
Robertsonian translocations is considered the major mechanism of karyotypic evolution in the Bovidae. The contribution in speciation process have been widely discuss, as female carriers exhibit repeat breeder tendency so a genetic benefit could be involved.
Chromosome rearrangements involving the BTA1: rob(1;29), rob(1;26), rob(1;21), t(1,8,9); t(X...
