Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 290
Filtrar
Mais filtros

Eixos temáticos
Intervalo de ano de publicação
1.
Anim Genet ; 53(1): 58-67, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34921423

RESUMO

Brazil is the largest exporter of beef in the world, and most of that beef derives from Nellore cattle. Although considered a zebu breed (Bos indicus), the history of Nellore cattle in Brazil is marked by the importation of bulls from India, the use of a Creole taurine (Bos taurus) maternal lineage to quickly expand the herds and backcrossing to Nellore bulls to recover zebu ancestry. As a consequence, the current Brazilian Nellore population carries an average taurine ancestry of approximately 1%. Although that percentage seems small, some taurine variants deviate substantially from that average, with the better-known cases being the PLAG1-Q haplotype involved with body size variation and the Guarani (PG ) polled variant producing hornless animals. Here, we report taurine haplotypes in 9074 Nellore animals genotyped for 539 657 imputed SNP markers. Apart from PLAG1-Q and PG , our analysis further revealed common taurine haplotypes (>3%) spanning genes related to immunity, growth, reproduction and hair and skin phenotypes. Using data from 22 economically important traits, we showed that many of the major QTL previously reported in the breed are at least partially driven by taurine haplotypes. As B. taurus and B. indicus haplotypes are highly divergent, presenting widely different sets of functional variants, our results provide promising targets for future scrutiny in Nellore cattle.


Assuntos
Bovinos/genética , Haplótipos/genética , Fenótipo , Animais , Brasil , Bovinos/metabolismo , Feminino , Masculino
2.
Trop Anim Health Prod ; 54(5): 310, 2022 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-36123551

RESUMO

INTRODUCTION: Gir is a Bos indicus breed originally from India, first imported to Brazil in 1850. High-performance Dairy Gir has been systematically selected in Brazil from its arrival. Since the major phenotypic difference between Gir in India and Brazil is a higher milk production in the former, it is speculated that Brazilian Gir was strategically crossed with Holstein or another Bos taurus to improve milk yield. This study evaluated the purity of Brazilian Gir breed stocks from BASA Farms in Brazil, trying to identify possible admixture events with other cattle breeds based on DNA analysis. MATERIALS AND METHODS: The population included 1061 pure registered individuals genotyped using two commercial platforms with 37 k and 25 k SNPs. Admixture analysis was performed individually to estimate levels of genomic composition derived from six different reference populations, three indicine and three taurine breeds. RESULTS: A Gir ancestry of 99% or higher was found for 94.2% of the population, while the remaining showed levels of non-Gir ancestry up to 6.8%. Only five individuals were identified with possible taurine ancestry, all of them exhibiting levels lower than 2%. The remaining non-Gir ancestry identified was derived from indicine breeds. The levels of admixture observed in the population were from low to non-detectable. No consistent patterns of admixture were observed indicating sustained introgression of taurine lines as means of genetic improvement. CONCLUSION: According to these results, genetic improvement achieved by Brazilian Gir breeders is the result of within-breed selection methods applied intensively over the past five decades, rather than the result from sustained introgression.


Assuntos
Genômica , Polimorfismo de Nucleotídeo Único , Animais , Brasil , Bovinos/genética , DNA
3.
Anim Genet ; 51(1): 78-86, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31802524

RESUMO

In the past two decades, average litter size (ALS) in Entlebucher Mountain dogs decreased by approximately 0.8 puppies. We conducted a GWAS for ALS using the single-step methodology to take advantage of 1632 pedigree records, 892 phenotypes and 372 genotypes (173 662 markers) for which only 12% of the dogs had both phenotypes and genotypes available. Our analysis revealed associations towards the growth differentiation factor 9 gene (GDF9), which is known to regulate oocyte maturation. The trait heritability was estimated at 43.1%, from which approximately 15% was accountable by the GDF9 locus alone. Therefore, markers flanking GDF9 explained approximately 6.5% of the variance in ALS. Analysis of WGSs revealed two missense substitutions in GDF9, one of which (g.11:21147009G>A) affected a highly conserved nucleotide in vertebrates. The derived allele A was validated in 111 dogs and shown to be associated with decreased ALS (-0.75 ± 0.22 puppies per litter). The variant was further predicted to cause a proline to serine substitution. The affected residue was immediately followed by a six-residue deletion that is fixed in the canine species but absent in non-canids. We further confirmed that the deletion is prevalent in the Canidae family by sequencing three species of wild canids. Since canids uniquely ovulate oocytes at the prophase stage of the first meiotic division, requiring maturation in the oviduct, we conjecture that the amino acid substitution and the six-residue deletion of GDF9 may serve as a model for insights into the dynamics of oocyte maturation in canids.


Assuntos
Cães/genética , Fator 9 de Diferenciação de Crescimento/genética , Tamanho da Ninhada de Vivíparos/genética , Mutação de Sentido Incorreto , Sequência de Aminoácidos , Animais , Cruzamento , Feminino , Estudos de Associação Genética/veterinária , Genótipo , Masculino , Linhagem , Fenótipo
4.
Anim Genet ; 50(6): 557-568, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31475748

RESUMO

Together with their sister subspecies Bos taurus, zebu cattle (Bos indicus) have contributed to important socioeconomic changes that have shaped modern civilizations. Zebu cattle were domesticated in the Indus Valley 8000 years before present (YBP). From the domestication site, they expanded to Africa, East Asia, southwestern Asia and Europe between 4000 and 1300 YBP, intercrossing with B. taurus to form clinal variations of zebu ancestry across the landmass of Afro-Eurasia. In the past 150 years, zebu cattle reached the Americas and Oceania, where they have contributed to the prosperity of emerging economies. The zebu genome is characterized by two mitochondrial haplogroups (I1 and I2), one Y chromosome haplogroup (Y3) and three major autosomal ancestral groups (Indian-Pakistani, African and Chinese). Phenotypically, zebu animals are recognized by their hump, large ears and excess skin. They are rustic, resilient to parasites and capable of bearing the hot and humid climates of the tropics. Many resources are available to study the zebu genome, including commercial arrays of SNP, reference assemblies and publicly available genotypes and whole-genome sequences. Nevertheless, many of these resources were initially developed to support research and subsidize industrial applications in B. taurus, and therefore they can produce bias in data analysis. The combination of genomics with precision agriculture holds great promise for the identification of genetic variants affecting economically important traits such as tick resistance and heat tolerance, which were naturally selected for millennia and played a major role in the evolution of B. indicus cattle.


Assuntos
Bovinos/genética , Bovinos/fisiologia , Animais , Evolução Biológica , Bovinos/anatomia & histologia , Resistência à Doença , Domesticação , Orelha/anatomia & histologia , Fertilidade , Variação Genética , Tamanho do Órgão , Pele/anatomia & histologia
5.
J Dairy Sci ; 102(12): 11217-11224, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31548062

RESUMO

Heterosis is the beneficial deviation of crossbred progeny from the average of parental lines for a particular trait. Heterosis is due to nonadditive genetic effects with dominance and epistatic components. Recent advances in genotyping technology have encouraged researchers to estimate and scan heterosis components for a range of traits in crossbred populations, applying various definitions of such components. In this study, we defined the intralocus (dominance) component of heterosis using local genetic ancestry and performed genome-wide association analysis for admixed Swiss Fleckvieh bulls and their parental populations, Red Holstein Friesian and Swiss Simmental, for semen traits. A linear mixed model for 41,824 SNP, including SNP additive genetic, breed additive, and breed dominance effects on 1,178 bulls (148 Red Holstein Friesian, 213 Swiss Simmental, and 817 Swiss Fleckvieh) with a total of 43,782 measurements was performed. In total, 19 significant regions for breed dominance were identified for volume (2 regions on Bos taurus autosome 10 and 22) and percentage of live spermatozoa (17 regions on Bos taurus autosome 3, 4, 5, 7, 13, 14, and 17), and genes associated with spermatogenesis, sperm motility, and male fertility traits were located there. No significant region for breed dominance was detected for total number of spermatozoa. The signals for breed dominance were relatively wide, most likely due to limited numbers of recombination events in a small number of generations (10-15 generations) of crossbreeding in the recent Swiss Fleckvieh composite.


Assuntos
Bovinos/genética , Genes Dominantes , Sêmen , Animais , Cruzamento , Estudo de Associação Genômica Ampla/veterinária , Vigor Híbrido , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único , Motilidade dos Espermatozoides/genética , Espermatozoides
6.
Antonie Van Leeuwenhoek ; 111(12): 2311-2321, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29974354

RESUMO

Mannheimia haemolytica causes respiratory disease in cattle. Amyloid proteins are a major component of biofilms; they aid in adhesion and confer resistance against several environmental insults. The amyloid protein curli is highly resistant to protease digestion and physical and chemical denaturation and binds Congo red (CR) dye. The purpose of this study was to characterize an approximately 50-kDa CR-binding amyloid-like protein (ALP) expressed by M. haemolytica. This protein resisted boiling and formic acid digestion and was recognized by a polyclonal anti-Escherichia coli curli serum, suggesting its relationship with amyloid proteins. Immunolabeling and transmission electron microscopy showed that antibodies bound long, thin fibers attached to the bacterial surface. Mass spectrometry analysis indicated that these fibers are M. haemolytica OmpP2-like proteins. The purified protein formed filaments in vitro, and antiserum against it reacted positively with biofilms. An in silico analysis of its amino acid sequence indicated it has auto-aggregation properties and eight amyloid peptides. Rabbit polyclonal antibodies generated against this ALP diminished the adhesion of ATCC 31612 and BA1 M. haemolytica strains to A549 human epithelial cells, indicating its participation in cell adhesion. ALP expressed by M. haemolytica may be important in its pathogenicity and ability to form biofilms.


Assuntos
Proteínas Amiloidogênicas/química , Proteínas da Membrana Bacteriana Externa/química , Biofilmes/crescimento & desenvolvimento , Mannheimia haemolytica/química , Células A549 , Sequência de Aminoácidos , Proteínas Amiloidogênicas/biossíntese , Proteínas Amiloidogênicas/genética , Proteínas Amiloidogênicas/isolamento & purificação , Animais , Aderência Bacteriana , Proteínas da Membrana Bacteriana Externa/biossíntese , Proteínas da Membrana Bacteriana Externa/genética , Proteínas da Membrana Bacteriana Externa/isolamento & purificação , Bovinos , Vermelho Congo/química , Expressão Gênica , Humanos , Soros Imunes/química , Soros Imunes/isolamento & purificação , Mannheimia haemolytica/genética , Mannheimia haemolytica/isolamento & purificação , Mannheimia haemolytica/metabolismo , Modelos Moleculares , Peso Molecular , Pasteurelose Pneumônica , Ligação Proteica , Estrutura Secundária de Proteína , Coelhos , Alinhamento de Sequência , Ovinos
7.
J Anim Breed Genet ; 135(1): 45-53, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29164741

RESUMO

The aim of this study was to estimate the non-additive genetic effects of the dominance component of heterosis as well as epistatic loss on semen traits in admixed Swiss Fleckvieh, a composite of Simmental (SI) and Red Holstein Friesian (RHF) cattle. Heterosis is the additional gain in productivity or fitness of cross-bred progeny over the mid-purebred parental populations. Intralocus gene interaction usually has a positive effect, while epistatic loss generally reduces productivity or fitness due to lack of evolutionarily established interactions of genes from different breeds. Genotypic data on 38,205 SNP of 818 admixed, as well as 148 RHF and 213 SI bulls as the parental breeds were used to predict breed origin of alleles. The genomewide locus-specific breed ancestries of individuals were used to calculate effects of breed difference as well as the dominance component of heterosis, while proxies for two definitions of epistatic loss were derived from 100,000 random pairs of loci. The average Holstein Friesian ancestry in admixed bulls was estimated 0.82. Results of fitting different linear mixed models showed including the dominance component of heterosis considerably improved the model adequacy for three of the four traits. Inclusion of epistatic loss increased the accuracy of the models only for our new definition of the epistatic effect for two traits, while the other definition was so highly correlated with the dominance component that statistical separation was impossible.


Assuntos
Cruzamento , Bovinos/genética , Vigor Híbrido , Sêmen , Animais , Epistasia Genética , Genótipo , Modelos Estatísticos , Polimorfismo de Nucleotídeo Único
8.
Physiol Genomics ; 49(10): 592-600, 2017 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-28939642

RESUMO

The hepatic lipase (LIPC) locus is a well-established determinant of high-density lipoprotein cholesterol (HDL-C) concentrations, an association that is modified by dietary fat in observational studies. Dietary interventions are lacking. We investigated dietary modulation of LIPC rs1800588 (-514 C/T) for lipids and glucose using a randomized crossover design comparing a high-fat Western diet and a low-fat traditional Hispanic diet in individuals of Caribbean Hispanic descent (n = 42, 4 wk/phase). No significant gene-diet interactions were observed for HDL-C. However, differences in dietary response according to LIPC genotype were observed. In major allele carriers (CC/CT), HDL-C (mmol/l) was higher following the Western diet compared with the Hispanic diet: phase 1 (Western: 1.3 ± 0.03; Hispanic: 1.1 ± 0.04; P = 0.0004); phase 2 (Western: 1.4 ± 0.03; Hispanic: 1.2 ± 0.03; P = 0.0003). In contrast, HDL-C in TT individuals did not differ by diet. Only major allele carriers benefited from the higher-fat diet for HDL-C. Secondarily, we explored dietary fat quality and rs1800588 for HDL-C and triglycerides (TG) in a Boston Puerto Rican Health Study (BPRHS) subset matched for diabetes and obesity status (subset n = 384). In the BPRHS, saturated fat was unfavorably associated with HDL-C and TG in rs1800588 TT carriers. LIPC rs1800588 appears to modify plasma lipids in the context of dietary fat. This new evidence of genetic modulation of dietary responses may inform optimal and personalized dietary fat advice and reinforces the importance of studying genetic markers in diet and cardiometabolic health.


Assuntos
HDL-Colesterol/sangue , Gorduras na Dieta/farmacologia , Lipase/genética , Adulto , HDL-Colesterol/genética , Estudos Transversais , Dieta Hiperlipídica/efeitos adversos , Feminino , Teste de Tolerância a Glucose , Hispânico ou Latino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Porto Rico
9.
J Dairy Sci ; 100(7): 5479-5490, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28527809

RESUMO

Genomic selection may accelerate genetic progress in breeding programs of indicine breeds when compared with traditional selection methods. We present results of genomic predictions in Gyr (Bos indicus) dairy cattle of Brazil for milk yield (MY), fat yield (FY), protein yield (PY), and age at first calving using information from bulls and cows. Four different single nucleotide polymorphism (SNP) chips were studied. Additionally, the effect of the use of imputed data on genomic prediction accuracy was studied. A total of 474 bulls and 1,688 cows were genotyped with the Illumina BovineHD (HD; San Diego, CA) and BovineSNP50 (50K) chip, respectively. Genotypes of cows were imputed to HD using FImpute v2.2. After quality check of data, 496,606 markers remained. The HD markers present on the GeneSeek SGGP-20Ki (15,727; Lincoln, NE), 50K (22,152), and GeneSeek GGP-75Ki (65,018) were subset and used to assess the effect of lower SNP density on accuracy of prediction. Deregressed breeding values were used as pseudophenotypes for model training. Data were split into reference and validation to mimic a forward prediction scheme. The reference population consisted of animals whose birth year was ≤2004 and consisted of either only bulls (TR1) or a combination of bulls and dams (TR2), whereas the validation set consisted of younger bulls (born after 2004). Genomic BLUP was used to estimate genomic breeding values (GEBV) and reliability of GEBV (R2PEV) was based on the prediction error variance approach. Reliability of GEBV ranged from ∼0.46 (FY and PY) to 0.56 (MY) with TR1 and from 0.51 (PY) to 0.65 (MY) with TR2. When averaged across all traits, R2PEV were substantially higher (R2PEV of TR1 = 0.50 and TR2 = 0.57) compared with reliabilities of parent averages (0.35) computed from pedigree data and based on diagonals of the coefficient matrix (prediction error variance approach). Reliability was similar for all the 4 marker panels using either TR1 or TR2, except that imputed HD cow data set led to an inflation of reliability. Reliability of GEBV could be increased by enlarging the limited bull reference population with cow information. A reduced panel of ∼15K markers resulted in reliabilities similar to using HD markers. Reliability of GEBV could be increased by enlarging the limited bull reference population with cow information.


Assuntos
Genômica/normas , Técnicas de Genotipagem/veterinária , Glicolipídeos/metabolismo , Glicoproteínas/metabolismo , Leite/metabolismo , Polimorfismo de Nucleotídeo Único , Seleção Artificial/genética , Fatores Etários , Animais , Brasil , Bovinos , Indústria de Laticínios , Feminino , Marcadores Genéticos , Genótipo , Técnicas de Genotipagem/métodos , Lactação , Gotículas Lipídicas , Masculino , Análise de Sequência com Séries de Oligonucleotídeos/veterinária , Gravidez , Reprodutibilidade dos Testes
10.
J Anim Breed Genet ; 134(6): 484-492, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28994157

RESUMO

We performed a genome-wide mapping for the age at first calving (AFC) with the goal of annotating candidate genes that regulate fertility in Nellore cattle. Phenotypic data from 762 cows and 777k SNP genotypes from 2,992 bulls and cows were used. Single nucleotide polymorphism (SNP) effects based on the single-step GBLUP methodology were blocked into adjacent windows of 1 Megabase (Mb) to explain the genetic variance. SNP windows explaining more than 0.40% of the AFC genetic variance were identified on chromosomes 2, 8, 9, 14, 16 and 17. From these windows, we identified 123 coding protein genes that were used to build gene networks. From the association study and derived gene networks, putative candidate genes (e.g., PAPPA, PREP, FER1L6, TPR, NMNAT1, ACAD10, PCMTD1, CRH, OPKR1, NPBWR1 and NCOA2) and transcription factors (TF) (STAT1, STAT3, RELA, E2F1 and EGR1) were strongly associated with female fertility (e.g., negative regulation of luteinizing hormone secretion, folliculogenesis and establishment of uterine receptivity). Evidence suggests that AFC inheritance is complex and controlled by multiple loci across the genome. As several windows explaining higher proportion of the genetic variance were identified on chromosome 14, further studies investigating the interaction across haplotypes to better understand the molecular architecture behind AFC in Nellore cattle should be undertaken.


Assuntos
Envelhecimento/fisiologia , Bovinos/genética , Fertilidade , Redes Reguladoras de Genes , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Animais , Cruzamento , Bovinos/fisiologia , Feminino , Genótipo , Fenótipo , Locos de Características Quantitativas
11.
Anim Genet ; 47(6): 637-646, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27435758

RESUMO

Identification of selection signatures is one of the current endeavors of evolutionary genetics. Admixed populations may be used to infer post-admixture selection. We calculated local ancestry for Swiss Fleckvieh, a composite of Simmental (SI) and Red Holstein Friesian (RHF), to infer such signals. Illumina Bovine SNP50 BeadChip data for 300 admixed, 88 SI and 97 RHF bulls were used. The average RHF ancestry across the whole genome was 0.70. To identify regions with high deviation from average, we considered two significance thresholds, based on a permutation test and extreme deviation from normal distribution. Regions on chromosomes 13 (46.3-47.3 Mb) and 18 (18.7-25.9 Mb) passed both thresholds in the direction of increased SI. Extended haplotype homozygosity within (iHS) and between (Rsb) populations was calculated to explore additional patterns of pre- and post-admixture selection signals. The Rsb score of admixed and SI was significant in a wide region of chromosome 18 (6.6-24.6 Mb) overlapped with one area of strong local ancestry deviation. FTO, with pleiotropic effect on milk and fertility, NOD2 on dairy and NKD1 and SALL1 on fertility traits are located there. Genetic differentiation of RHF and SI (Fst ), an alternative indicator of pre-admixture selection in pure populations, was calculated. No considerable overlap of peaks of local ancestry deviations and Fst was observed. We found two regions with significant signatures of post-admixture selection in this very young composite, applying comparatively stringent significance thresholds. The signals cover relatively large genomic areas and did not allow pinpointing of the gene(s) responsible for the apparent shift in ancestry proportions.


Assuntos
Cruzamento , Bovinos/genética , Genética Populacional , Seleção Genética , Animais , Fertilidade/genética , Genótipo , Haplótipos , Homozigoto , Masculino , Polimorfismo de Nucleotídeo Único
12.
Curr Microbiol ; 72(4): 450-6, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26729352

RESUMO

Gallibacterium anatis has the ability to hemagglutinate rabbit erythrocytes; however, no bacterial component has yet been associated with this function. In the present work, a protein of approximately 65 kDa with hemagglutinating activity for glutaraldehyde-fixed chicken erythrocytes was purified by ion interchange chromatography from G. anatis F149(T) secreted proteins. The protein was recognized by a rabbit polyclonal serum against a hemagglutinin from Avibacterium paragallinarum. The 65 kDa purified protein presented identity with a G. anatis filamentous hemagglutinin by mass spectrometric analysis. As well, the bacterial surface of G. anatis was labeled by immune gold assays using a polyclonal serum against the 65-kDa protein. A similar protein was recognized in four other G. anatis strains by immunoblots using the same antiserum. The protein binds sheep or pig biotinylated fibrinogen, suggesting an interaction with basement membrane eukaryotic cells components, and the protein is present in G. anatis biofilms. Overall, the results suggest that the 65 kDa hemagglutinin is a common antigen and a potential virulence factor in G. anatis.


Assuntos
Hemaglutininas/metabolismo , Pasteurellaceae/fisiologia , Animais , Biofilmes , Carboidratos/farmacologia , Galinhas , Eritrócitos/imunologia , Eritrócitos/metabolismo , Hemaglutinação/efeitos dos fármacos , Testes de Hemaglutinação , Hemaglutininas/química , Hemaglutininas/genética , Hemaglutininas/isolamento & purificação , Pasteurellaceae/classificação , Pasteurellaceae/ultraestrutura , Filogenia
13.
Genet Mol Res ; 15(1)2016 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-26909970

RESUMO

The aim of this study was to evaluate a genome wide association study (GWAS) approach to identify single nucleotide polymorphisms (SNPs) associated with fertility traits (early puberty) in Nellore cattle (Bos indicus). Fifty-five Nellore cows were selected from a herd monitored for early puberty onset (positive pregnancy at 18 months of age). Extremes of this phenotype were selected; 30 and 25 individuals were pregnant and non-pregnant, respectively, at that age. DNA samples were genotyped using a high-density SNP chip (>777.000 SNP). GWAS using a case-control strategy highlighted a number of significant markers based on their proximity with the Bonferroni correction line. Results indicated that chromosomes 5, 6, 9, 10, and 22 were associated with the traits of interest. The most significant SNPs on these chromosomes were rs133039577, rs110013280, rs134702839, rs109551605, and rs41639155. Candidate genes, as well as quantitative trait loci (QTL) previously reported in the Ensembl and Cattle QTLdb databases, were further investigated. Analysis of the regions close to the SNP on chromosomes 9 and 10 revealed that four QTL had been previously classified under the reproduction category. In conclusion, we have identified SNPs in close proximity to genes associated with reproductive traits. Moreover, U6 spliceosomal RNA was present on three different chromosomes, which is possibly associated with age at first calving, suggesting that it might be a strong candidate for future studies.


Assuntos
Fertilidade/genética , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Característica Quantitativa Herdável , Reprodução/genética , Maturidade Sexual/genética , Animais , Cruzamento , Bovinos , Cromossomos de Mamíferos/química , Feminino , Estudo de Associação Genômica Ampla , Genótipo , Masculino , Fenótipo , Gravidez , RNA Nuclear Pequeno/genética , Spliceossomos/genética
14.
Med Oral Patol Oral Cir Bucal ; 21(3): e316-20, 2016 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-26946196

RESUMO

BACKGROUND: The aim of this study was to know the distribution of dental developmental alterations in the population requesting stomatological attention at the Admission and Diagnosis Clinic of our institution in Mexico City. MATERIAL AND METHODS: We reviewed the archives and selected those files with developmental dental alterations. Analyzed data were diagnoses, age, gender, location and number of involved teeth. RESULTS: Of the 3.522 patients reviewed, 179 (5.1%) harbored 394 developmental dental alterations. Of them, 45.2% were males and 54.8% were females with a mean age of 16.7 years. The most common were supernumeraries, dental agenesia and dilaceration. Adults were 30.7% of the patients with dental developmental alterations. In them, the most common lesions were agenesia and supernumeraries. Mesiodens was the most frequently found supernumerary teeth (14.7%). CONCLUSIONS: Our finding that 30.7% of the affected patients were adults is an undescribed and unusually high proportion of patients that have implications on planning and prognosis of their stomatological treatment.


Assuntos
Anodontia , Odontogênese , Dente Supranumerário , Adolescente , Feminino , Humanos , Masculino , México , Instituições Acadêmicas
15.
J Dairy Sci ; 98(7): 4969-89, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25958293

RESUMO

Genotype imputation is widely used as a cost-effective strategy in genomic evaluation of cattle. Key determinants of imputation accuracies, such as linkage disequilibrium patterns, marker densities, and ascertainment bias, differ between Bos indicus and Bos taurus breeds. Consequently, there is a need to investigate effectiveness of genotype imputation in indicine breeds. Thus, the objective of the study was to investigate strategies and factors affecting the accuracy of genotype imputation in Gyr (Bos indicus) dairy cattle. Four imputation scenarios were studied using 471 sires and 1,644 dams genotyped on Illumina BovineHD (HD-777K; San Diego, CA) and BovineSNP50 (50K) chips, respectively. Scenarios were based on which reference high-density single nucleotide polymorphism (SNP) panel (HDP) should be adopted [HD-777K, 50K, and GeneSeek GGP-75Ki (Lincoln, NE)]. Depending on the scenario, validation animals had their genotypes masked for one of the lower-density panels: Illumina (3K, 7K, and 50K) and GeneSeek (SGGP-20Ki and GGP-75Ki). We randomly selected 171 sires as reference and 300 as validation for all the scenarios. Additionally, all sires were used as reference and the 1,644 dams were imputed for validation. Genotypes of 98 individuals with 4 and more offspring were completely masked and imputed. Imputation algorithms FImpute and Beagle v3.3 and v4 were used. Imputation accuracies were measured using the correlation and allelic correct rate. FImpute resulted in highest accuracies, whereas Beagle 3.3 gave the least-accurate imputations. Accuracies evaluated as correlation (allelic correct rate) ranged from 0.910 (0.942) to 0.961 (0.974) using 50K as HDP and with 3K (7K) as low-density panels. With GGP-75Ki as HDP, accuracies were moderate for 3K, 7K, and 50K, but high for SGGP-20Ki. The use of HD-777K as HDP resulted in accuracies of 0.888 (3K), 0.941 (7K), 0.980 (SGGP-20Ki), 0.982 (50K), and 0.993 (GGP-75Ki). Ungenotyped individuals were imputed with an average accuracy of 0.970. The average top 5 kinship coefficients between reference and imputed individuals was a strong predictor of imputation accuracy. FImpute was faster and used less memory than Beagle v4. Beagle v4 outperformed Beagle v3.3 in accuracy and speed of computation. A genotyping strategy that uses the HD-777K SNP chip as a reference panel and SGGP-20Ki as the lower-density SNP panel should be adopted as accuracy was high and similar to that of the 50K. However, the effect of using imputed HD-777K genotypes from the SGGP-20Ki on genomic evaluation is yet to be studied.


Assuntos
Bovinos/genética , Genótipo , Análise de Sequência com Séries de Oligonucleotídeos/veterinária , Polimorfismo de Nucleotídeo Único , Animais , Feminino , Masculino , Análise de Sequência com Séries de Oligonucleotídeos/métodos
16.
Genet Mol Res ; 14(2): 5229-33, 2015 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-26125717

RESUMO

Weight gain is a key performance trait for beef cat-tle; however, attention should be given to the production costs for better profitability. Therefore, a feed efficiency trait based on per-formance can be an interesting approach to improve performance without increasing food costs. To identify candidate genes and ge-nomic regions associated with residual body weight gain (RWG), we conducted a genome-wide association study (GWAS) with 720 Nellore cattle using the GRAMMAR-Gamma association test. We identified 30 significant single nucleotide polymorphisms (SNPs), especially on chromosomes 2, 8, 12, and 17. Several genes and quantitative train loci (QTLs) present in the regions identified were appointed; we highlight DMRT2 (doublesex and mab-3 related tran-scription factor 2), IFFO2 (intermediate filament family orphan 2), LNX2 (ligand of numb-protein X 2), MTIF3 (mitochondrial transla-tional initiation factor 3), and TRNAG-CCC (transfer RNA glycine anticodon CCC). The metabolic pathways that can explain part of the phenotypic variation in RWG are related to oxidative stress and muscle control.


Assuntos
Peso Corporal/genética , Estudo de Associação Genômica Ampla , Locos de Características Quantitativas/genética , Aumento de Peso/genética , Animais , Bovinos , Genótipo , Redes e Vias Metabólicas/genética , Fenótipo , Polimorfismo de Nucleotídeo Único
17.
J Anim Breed Genet ; 132(6): 420-7, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26016521

RESUMO

The aim of this study was to identify candidate genes and genomic regions associated with ultrasound-derived measurements of the rib-eye area (REA), backfat thickness (BFT) and rumpfat thickness (RFT) in Nellore cattle. Data from 640 Nellore steers and young bulls with genotypes for 290 863 single nucleotide polymorphisms (SNPs) were used for genomewide association mapping. Significant SNP associations were explored to find possible candidate genes related to physiological processes. Several of the significant markers detected were mapped onto functional candidate genes including ARFGAP3, CLSTN2 and DPYD for REA; OSBPL3 and SUDS3 for BFT; and RARRES1 and VEPH1 for RFT. The physiological pathway related to lipid metabolism (CLSTN2, OSBPL3, RARRES1 and VEPH1) was identified. The significant markers within previously reported QTLs reinforce the importance of the genomic regions, and the other loci offer candidate genes that have not been related to carcass traits in previous investigations.


Assuntos
Tecido Adiposo/diagnóstico por imagem , Distribuição da Gordura Corporal/veterinária , Bovinos/genética , Metabolismo dos Lipídeos/genética , Locos de Características Quantitativas , Carne Vermelha , Animais , Marcadores Genéticos , Estudo de Associação Genômica Ampla , Genótipo , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único , Transdução de Sinais , Ultrassonografia
18.
J Anim Breed Genet ; 131(3): 210-6, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24906027

RESUMO

The genome-wide association study (GWAS) results are presented for average daily gain (ADG) in Nellore cattle. Phenotype of 720 male Bos indicus animals with information of ADG in feedlots and 354,147 single-nucleotide polymorphisms (SNPs) obtained from a database added by information from Illumina Bovine HD (777,962 SNPs) and Illumina BovineSNP50 (54,609) by imputation were used. After quality control and imputation, 290,620 SNPs remained in the association analysis, using R package Genome-wide Rapid Association using Mixed Model and Regression method GRAMMAR-Gamma. A genomic region with six significant SNPs, at Bonferroni-corrected significance, was found on chromosome 3. The most significant SNP (rs42518459, BTA3: 85849977, p = 9.49 × 10(-8)) explained 5.62% of the phenotypic variance and had the allele substitution effect of -0.269 kg/day. Important genes such as PDE4B, LEPR, CYP2J2 and FGGY are located near this region, which is overlapped by 12 quantitative trait locus (QTLs) described for several production traits. Other regions with markers with suggestive effects were identified in BTA6 and BTA10. This study showed regions with major effects on ADG in Bos indicus in feedlots. This information may be useful to increase the efficiency of selecting this trait and to understand the physiological processes involved in its regulation.


Assuntos
Bovinos/crescimento & desenvolvimento , Bovinos/genética , Estudo de Associação Genômica Ampla , Animais , Genótipo , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único
19.
Artigo em Inglês | MEDLINE | ID: mdl-38642897

RESUMO

BACKGROUND AND OBJECTIVE: Painful trigeminal neuropathy is a complex clinical entity due to its severity and refractoriness to pharmacological and interventional management. We describe our experience in treating refractory painful trigeminal neuropathy (RPTN) with gasserian ganglion stimulation (GGS). MATERIALS AND METHODS: Six patients with RPTN were treated with GGS in our Unit between 2019 and 2022. The following data were collected: socio-demographic characteristics, triggering event, duration of the disease and treatment received prior to surgery, pre- and post-intervention visual analogue scale (VAS) score, follow-up time, and pre- and post-intervention functionality and quality of life. RESULTS: All patients were women who had received aggressive first-, second-, and third-line pharmacological, non-pharmacological, and interventional management before being referred for GGS. Patients reported a 50%-72% decrease in pain on VAS and improved functionality during follow-up. CONCLUSIONS: GGS is a promising therapeutic alternative for patients with RPTN. Although the initial outcomes and experience are encouraging, RPTN is recommended on the basis of safety, reproducibility, and trends observed in clinical practice.


Assuntos
Terapia por Estimulação Elétrica , Gânglio Trigeminal , Neuralgia do Trigêmeo , Humanos , Feminino , Neuralgia do Trigêmeo/terapia , Pessoa de Meia-Idade , Terapia por Estimulação Elétrica/métodos , Idoso , Medição da Dor/métodos , Adulto , Resultado do Tratamento
20.
Epigenetics ; 18(1): 2163363, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-36600398

RESUMO

Indicine and taurine subspecies present distinct morphological traits as a consequence of environmental adaptation and artificial selection. Although the two subspecies have been characterized and compared at genome-wide level and at specific loci, their epigenetic diversity has not yet been explored. In this work, Reduced Representation Bisulphite Sequencing (RRBS) profiling of the taurine Angus (A) and indicine Nellore (N) cattle breeds was applied to identify methylation differences between the two subspecies. Genotyping by sequencing (GBS) of the same animals was performed to detect single nucleotide polymorphisms (SNPs) at cytosines in CpG dinucleotides and remove them from the differential methylation analysis. A total of 660,845 methylated cytosines were identified within the CpG context (CpGs) across the 10 animals sequenced (5 N and 5 A). A total of 25,765 of these were differentially methylated (DMCs). Most DMCs clustered in CpG stretches nearby genes involved in cellular and anatomical structure morphogenesis. Also, sequences flanking DMC were enriched in SNPs compared to all other CpGs, either methylated or unmethylated in the two subspecies. Our data suggest a contribution of epigenetics to the regulation and divergence of anatomical morphogenesis in the two subspecies relevant for cattle evolution and sub-species differentiation and adaptation.


Assuntos
Metilação de DNA , Genoma , Bovinos , Animais , Fenótipo , Epigenômica , Epigênese Genética
SELEÇÃO DE REFERÊNCIAS
Detalhe da pesquisa