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1.
Mamm Genome ; 33(4): 619-628, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35816191

RESUMEN

Cis-acting effects of noncoding variants on gene expression and regulatory molecules constitute a significant factor for phenotypic variation in complex traits. To provide new insights into the impacts of single-nucleotide polymorphisms (SNPs) on transcription factors (TFs) and transcription cofactors (TcoF) coding genes, we carried out a multi-omic analysis to identify cis-regulatory effects of SNPs on these genes' expression in muscle and describe their association with feed efficiency-related traits in Nelore cattle. As a result, we identified one SNP, the rs137256008C > T, predicted to impact the EEF1A1 gene expression (ß = 3.02; P-value = 3.51E-03) and the residual feed intake trait (ß = - 3.47; P-value = 0.02). This SNP was predicted to modify transcription factor sites and overlaps with several QTL for feed efficiency traits. In addition, co-expression network analyses showed that animals containing the T allele of the rs137256008 SNP may be triggering changes in the gene network. Therefore, our analyses reinforce and contribute to a better understanding of the biological mechanisms underlying gene expression control of feed efficiency traits in bovines. The cis-regulatory SNP can be used as biomarker for feed efficiency in Nelore cattle.


Asunto(s)
Ingestión de Alimentos , Sitios de Carácter Cuantitativo , Bovinos/genética , Animales , Ingestión de Alimentos/genética , Polimorfismo de Nucleótido Simple , Fenotipo , Músculos , Expresión Génica , Alimentación Animal
2.
J Dairy Sci ; 105(4): 3296-3305, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35094861

RESUMEN

The present study aimed to estimate covariance components of milk fatty acids (FA) and to compare the genomic estimated breeding values under general and heat-stress effects. Data consisted of 38,762 test-day records from 6,344 Holstein cows obtained from May 2012 through January 2018 on 4 dairy herds from Brazil. Single-trait repeatability test-day models with random regressions as a function of temperature-humidity index values were used for genetic analyses. The models included contemporary groups, parity order (1-6), and days in milk classes as fixed effects, and general and thermotolerance additive genetic and permanent environmental as random effects. Notably, differences in heritability estimates between environments (general and heat stress) increased (0.03 to 0.06) for unsaturated FA traits, such as unsaturated, monounsaturated, and polyunsaturated, at higher heat-stress levels. In contrast, heritability estimated between environments for saturated FA traits, including saturated FA, palmitic acid (C16:0), and stearic acid (C18:0) did not observe significant differences between environments. In addition, our study revealed negative genetic correlations between general and heat-stress additive genetic effects (antagonistic effect) for the saturated FA, C16:0, C18:0, and C18:1, which ranged from -0.007 to -0.32. Spearman's ranking correlation between genomic estimated breeding values ranged from -0.27 to 0.99. Results indicated a moderate to strong interaction of genotype by the environment for most FA traits comparing a heat-stress environment with thermoneutral conditions. Our findings point out novel opportunities to explore the use of FA milk profile and heat-stress models.


Asunto(s)
Lactancia , Leche , Animales , Brasil , Bovinos , Ácidos Grasos , Femenino , Respuesta al Choque Térmico/genética , Lactancia/genética , Embarazo
3.
Rev Neurol (Paris) ; 178(10): 996-998, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35902307

RESUMEN

The classic 1966 description of locked-in syndrome was performed by Plum and Posner. Here, we revisit the world's first case report of this condition, which was presented in 1875 by Camille Darolles, an intern supervised by François Damaschino, at a monthly meeting of the Société Anatomique de Paris chaired by Jean-Martin Charcot. We also review the fascination of classic writers with this syndrome, including Alexandre Dumas, a genius of literature and known admirer of the medical sciences who, in the book "The Count of Monte Cristo" published in 1846, described a character with this condition.


Asunto(s)
Síndrome de Enclaustramiento , Medicina , Neurología , Humanos , Cognición
4.
Anim Genet ; 51(6): 899-909, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33006182

RESUMEN

The presence of intermuscular bones in fisheries products limits the consumption and commercialization potential of many fish species, including tambaqui (Colossoma macropomum). These bones have caused medical emergencies and are an undesirable characteristic for fish farming because their removal is labor-intensive during fish processing. Despite the difficulty in identifying genes related to the lack of intermuscular bone in diverse species of fish, the discovery of individuals lacking intermuscular bones in a Neotropical freshwater characiform fish has provided a unique opportunity to delve into the genetic mechanisms underlying the pathways of intermuscular bone formation. In this study, we carried out a GWAS among boneless and wt tambaqui populations to identify markers associated with a lack of intermuscular bone. After analyzing 11 416 SNPs in 360 individuals (12 boneless and 348 bony), we report 675 significant (Padj  < 0.003) associations for this trait. Of those, 13 associations were located near candidate genes related to the reduction of bone mass, promotion of bone formation, inhibition of bone resorption, central control of bone remodeling, bone mineralization and other related functions. To the best of our knowledge, for the first time, we have successfully identified genes related to a lack of intermuscular bones using GWAS in a non-model species.


Asunto(s)
Huesos/anatomía & histología , Characiformes/genética , Estudios de Asociación Genética/veterinaria , Osteogénesis/genética , Animales , Brasil , Characiformes/anatomía & histología , Frecuencia de los Genes , Ligamiento Genético , Desequilibrio de Ligamiento , Polimorfismo de Nucleótido Simple , Pez Cebra
5.
J Dairy Sci ; 102(6): 5305-5314, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30904307

RESUMEN

Advances in the molecular area of selection have expanded knowledge of the genetic architecture of complex traits through genome-wide association studies (GWAS). Several GWAS have been performed so far, but confirming these results is not always possible due to several factors, including environmental conditions. Thus, our objective was to identify genomic regions associated with traditional milk production traits, including milk yield, somatic cell score, fat, protein and lactose percentages, and fatty acid composition in a Holstein cattle population producing under tropical conditions. For this, 75,228 phenotypic records from 5,981 cows and genotypic data of 56,256 SNP from 1,067 cows were used in a weighted single-step GWAS. A total of 46 windows of 10 SNP explaining more than 1% of the genetic variance across 10 Bos taurus autosomes (BTA) harbored well-known and novel genes. The MGST1 (BTA5), ABCG2 (BTA6), DGAT1 (BTA14), and PAEP (BTA11) genes were confirmed within some of the regions identified in our study. Potential novel genes involved in tissue damage and repair of the mammary gland (COL18A1), immune response (LTTC19), glucose homeostasis (SLC37A1), synthesis of unsaturated fatty acids (LTBP1), and sugar transport (SLC37A1 and MFSD4A) were found for milk yield, somatic cell score, fat percentage, and fatty acid composition. Our findings may assist genomic selection by using these regions to design a customized SNP array to improve milk production traits on farms with similar environmental conditions.


Asunto(s)
Bovinos/genética , Estudio de Asociación del Genoma Completo/veterinaria , Genotipo , Polimorfismo de Nucleótido Simple , Animales , Brasil , Bovinos/fisiología , Ácidos Grasos/metabolismo , Femenino , Genoma , Genómica , Leche/metabolismo
6.
BMC Genomics ; 19(1): 375, 2018 May 21.
Artículo en Inglés | MEDLINE | ID: mdl-29783944

RESUMEN

BACKGROUND: Despite the health concerns and nutritional importance of fatty acids, there is a relative paucity of studies in the literature that report genetic or genomic parameters, especially in the case of sheep populations. To investigate the genetic architecture of fatty acid composition of sheep, we conducted genome-wide association studies (GWAS) and estimated genomic heritabilities for fatty acid profile in Longissimus dorsi muscle of 216 male sheep. RESULTS: Genomic heritability estimates for fatty acid content ranged from 0.25 to 0.46, indicating that substantial genetic variation exists for the evaluated traits. Therefore, it is possible to alter fatty acid profiles through selection. Twenty-seven genomic regions of 10 adjacent SNPs associated with fatty acids composition were identified on chromosomes 1, 2, 3, 5, 8, 12, 14, 15, 16, 17, and 18, each explaining ≥0.30% of the additive genetic variance. Twenty-three genes supporting the understanding of genetic mechanisms of fat composition in sheep were identified in these regions, such as DGAT2, TRHDE, TPH2, ME1, C6, C7, UBE3D, PARP14, and MRPS30. CONCLUSIONS: Estimates of genomic heritabilities and elucidating important genomic regions can contribute to a better understanding of the genetic control of fatty acid deposition and improve the selection strategies to enhance meat quality and health attributes.


Asunto(s)
Ácidos Grasos/metabolismo , Estudio de Asociación del Genoma Completo , Genómica , Carácter Cuantitativo Heredable , Ovinos/genética , Ovinos/metabolismo , Animales , Análisis Multivariante
7.
J Chem Phys ; 148(4): 045107, 2018 Jan 28.
Artículo en Inglés | MEDLINE | ID: mdl-29390842

RESUMEN

We have studied the interaction of an ion beam (17.6 keV F-) with cystine, a dimer formed by the binding of two cysteine residues. Cystine can be considered as an ideal prototype for the study of the relevance of the disulfide (-S-S-) chemical bond in biomolecules. For the sake of comparison, the amino acid cysteine has also been subjected to the same experimental conditions. Characterization of the samples by XPS and NEXAFS shows that both pristine cystine and pristine cysteine are found as a dipolar ion (zwitterion). Following irradiation, the dimer and the amino acid show a tendency to change from the dipole ion form to the normal uncharged form. The largest spectral modification was observed in the high resolution XPS spectra obtained at around the N 1s core level for the two biomolecules. The 2p sulfur edge spectra of cysteine and cystine were much less sensitive to radiation effects. We suggest that the disulfide bond (-S-S-) remains stable before and after irradiation, contributing to the larger radiation stability of cystine as compared to the amino acid cysteine.


Asunto(s)
Cistina/química , Electrones , Iones/química , Espectroscopía de Fotoelectrones , Propiedades de Superficie
8.
J Med Primatol ; 46(5): 228-231, 2017 10.
Artículo en Inglés | MEDLINE | ID: mdl-28523853

RESUMEN

BACKGROUND: The Saimiri sciureus represents a valuable resource for biomedical research, due to its large number on primate centers and similarity to human anatomy and physiology. The aim of this study was to apply the method proposed by Buchanan & Bücheler in healthy squirrel monkeys (S. sciureus) and determine by radiographic examination, the average value of the vertebral heart size (VHS) for the specie. METHOD: Laterolateral left (LLL), laterolateral right (LLR), ventrodorsal (VD), and dorsoventral (DV) projections were used for radiographic examinations to evaluate the heart silhouette of S. sciureus. RESULTS: There was no statistical difference between the projections LLL and LLR, or VD and DV, and between males and females, so measurements in the four radiographic projections were not performed. CONCLUSION: The values obtained in VHS of S. sciureus showed up species specific.


Asunto(s)
Corazón/diagnóstico por imagen , Saimiri/anatomía & histología , Animales , Femenino , Masculino , Radiografía
9.
Genet Mol Res ; 16(1)2017 Feb 16.
Artículo en Inglés | MEDLINE | ID: mdl-28218779

RESUMEN

The objectives of this study were to characterize the allelic and genotypic frequencies of polymorphisms in the µ-calpain and calpastatin genes, and to assess their association with meat tenderness and animal growth in Nellore cattle. We evaluated 605 Nellore animals at 24 months of age, on average, at slaughter. The polymorphisms were determined for the molecular markers CAPN316, CAPN530, CAPN4751, CAPN4753, and UOGACAST1. Analyses of meat tenderness at 7, 14, and 21 days of maturation were performed in samples of longissimus thoracis obtained between the 12th and 13th rib and sheared using a Warner Bratzler Shear Force. Significant effects were observed for meat tenderness at days 7, 14, and 21 of maturation for the marker CAPN4751, at day 21 for the marker CAPN4753, and at days 14 and 21 for the marker UOGCAST1. For genotypic combinations of markers, the results were significant for the combination CAPN4751/UOGCAST1 in the three maturation periods and CAPN4753/UOGCAST1 at days 14 and 21 of maturation.


Asunto(s)
Proteínas de Unión al Calcio/genética , Calpaína/genética , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo , Animales , Bovinos , Frecuencia de los Genes , Marcadores Genéticos , Genotipo , Carne Roja/análisis
10.
J Chem Phys ; 144(11): 114305, 2016 Mar 21.
Artículo en Inglés | MEDLINE | ID: mdl-27004874

RESUMEN

Plant volatiles are emitted by plants in response to several forms of stress, including interaction with energetic photons. In the present work, we discuss the interaction of extreme UV and soft X-ray photons with a plant volatile, vanillin. The single and double (multiple) ionization of the vanillin molecule have been studied for the first time using time-of-flight mass spectrometry and VUV and soft X-ray photons (synchrotron radiation, at 12.0 eV, 21.2 eV, 130 eV, 310 eV, 531 eV, and 550 eV). At 12.0 and 21.2 eV, only singly charged species are observed and the parent ion, C8H8O3 (+), is the dominant species. Energy differences for some selected fragments were calculated theoretically in this energy region. At 130 eV, direct double and triple ionization of the valence electrons may occur. The fragmentation increases and CHO(+) becomes one of the main cations in the mass spectrum. The molecular ion is still the dominant species, but other fragments, such as C6H5O(+), begin to present similar intensities. At 310 eV, C 1s electrons may be ionized and Auger processes give rise to dissociative doubly ionized cations. Ionization around the O 1s edge has been studied both at the 531 eV resonance and above the ionization edge. Resonant and normal Auger processes play a significant role in each case and a large fragmentation of the molecule is observed at both photon energies, with intense fragments such as CHO(+) and CH3 (+) being clearly observed. A near edge X-ray absorption fine structure spectrum of the vanillin molecule was obtained around the O 1s ionization threshold. In addition, the fragmentation of vanillin has also been studied using a fast beam of electrons (800 eV), for the sake of comparison.


Asunto(s)
Benzaldehídos/efectos de la radiación , Compuestos Orgánicos Volátiles/efectos de la radiación , Benzaldehídos/química , Espectrometría de Masas , Modelos Químicos , Fotones , Espectrofotometría , Rayos Ultravioleta , Compuestos Orgánicos Volátiles/química , Rayos X
11.
Anim Genet ; 47(4): 491-4, 2016 08.
Artículo en Inglés | MEDLINE | ID: mdl-27028139

RESUMEN

The myogenic differentiation 1 gene (MYOD1) has a key role in skeletal muscle differentiation and composition through its regulation of the expression of several muscle-specific genes. We first used a general linear mixed model approach to evaluate the association of MYOD1 expression levels on individual beef tenderness phenotypes. MYOD1mRNA levels measured by quantitative polymerase chain reactions in 136 Nelore steers were significantly associated (P ≤ 0.01) with Warner-Bratzler shear force, measured on the longissimus dorsi muscle after 7 and 14 days of beef aging. Transcript abundance for the muscle regulatory gene MYOD1 was lower in animals with more tender beef. We also performed a co-expression network analysis using whole transcriptome sequence data generated from 30 samples of longissimus muscle tissue to identify genes that are potentially regulated by MYOD1. The effect of MYOD1 gene expression on beef tenderness may emerge from its function as an activator of muscle-specific gene transcription such as for the serum response factor (C-fos serum response element-binding transcription factor) gene (SRF), which determines muscle tissue development, composition, growth and maturation.


Asunto(s)
Bovinos/genética , Músculo Esquelético/metabolismo , Proteína MioD/genética , Carne Roja , Animales , Composición Corporal , Modelos Lineales , Masculino , Proteína MioD/metabolismo , Fenotipo , ARN Mensajero/genética , ARN Mensajero/metabolismo , Análisis de Secuencia de ARN , Transcriptoma
12.
Genet Mol Res ; 15(2)2016 Jul 14.
Artículo en Inglés | MEDLINE | ID: mdl-27420997

RESUMEN

Feed efficiency and carcass characteristics are late-measured traits. The detection of molecular markers associated with them can help breeding programs to select animals early in life, and to predict breeding values with high accuracy. The objective of this study was to identify polymorphisms in the functional and positional candidate gene NEUROD1 (neurogenic differentiation 1), and investigate their associations with production traits in reference families of Nelore cattle. A total of 585 steers were used, from 34 sires chosen to represent the variability of this breed. By sequencing 14 animals with extreme residual feed intake (RFI) values, seven single nucleotide polymorphisms (SNPs) in NEUROD1 were identified. The investigation of marker effects on the target traits RFI, backfat thickness (BFT), ribeye area (REA), average body weight (ABW), and metabolic body weight (MBW) was performed with a mixed model using the restricted maximum likelihood method. SNP1062, which changes cytosine for guanine, had no significant association with RFI or REA. However, we found an additive effect on ABW (P ≤ 0.05) and MBW (P ≤ 0.05), with an estimated allele substitution effect of -1.59 and -0.93 kg0.75, respectively. A dominant effect of this SNP for BFT was also found (P ≤ 0.010). Our results are the first that identify NEUROD1 as a candidate that affects BFT, ABW, and MBW. Once confirmed, the inclusion of this SNP in dense panels may improve the accuracy of genomic selection for these traits in Nelore beef cattle as this SNP is not currently represented on SNP chips.


Asunto(s)
Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/genética , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/metabolismo , Bovinos/crecimiento & desarrollo , Bovinos/genética , Proteínas del Tejido Nervioso/genética , Proteínas del Tejido Nervioso/metabolismo , Alelos , Alimentación Animal , Animales , Peso Corporal/genética , Cruzamiento , Genotipo , Funciones de Verosimilitud , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo/genética , Carne Roja , Aumento de Peso/genética
13.
Genet Mol Res ; 15(3)2016 08 29.
Artículo en Inglés | MEDLINE | ID: mdl-27706648

RESUMEN

In contrast to the Mendelian inheritance model, parental alleles can contribute unequally to gene expression, which may result in phenotypic variance among individuals and bias in the predicted additive effect of molecular markers associated with production traits. Given the need to understand the effects of allelic variation and parent-of-origin effects on the expression of genes with a commercial interest in cattle, we analyzed the expression of KCNJ11 (potassium inwardly rectifying channel, subfamily J, member 11), which was previously described as a functional candidate gene for meat tenderness. Allele-specific and parent-of-origin-dependent expression of this gene were assessed in bovine muscle using the rs379610823 single nucleotide polymorphism as a reference. Biallelic expression was observed; however, the T allele was expressed at significantly higher levels than the C allele. Furthermore, increased expression of KCNJ11 was found in animals harboring the maternal T allele. This study is the first to describe the differential allelic expression of bovine KCNJ11. Our findings are important for understanding the mechanisms that underlie the pattern of KCNJ11 expression and its potential impact on the phenotypic variation of meat tenderness in Nelore beef cattle. This reinforces the need for further investigation of allelic- and parent-of-origin expression deviation in genetic markers eligible for the selection of target traits.


Asunto(s)
Marcadores Genéticos , Patrón de Herencia , Carne/análisis , Canales de Potasio de Rectificación Interna/genética , Carácter Cuantitativo Heredable , Alelos , Animales , Bovinos , Femenino , Expresión Génica , Genotipo , Masculino , Músculo Esquelético/metabolismo , Fenotipo , Polimorfismo de Nucleótido Simple
14.
J Anim Breed Genet ; 133(5): 384-95, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26968150

RESUMEN

Information about genetic parameters is essential for selection decisions and genetic evaluation. These estimates are population specific; however, there are few studies with dairy cattle populations reared under tropical and sub-tropical conditions. Thus, the aim was to obtain estimates of heritability and genetic correlations for milk yield and quality traits using pedigree and genomic information from a Holstein population maintained in a tropical environment. Phenotypic records (n = 36 457) of 4203 cows as well as the genotypes for 57 368 single nucleotide polymorphisms from 755 of these cows were used. Covariance components were estimated using the restricted maximum likelihood method under a mixed animal model, considering a pedigree-based relationship matrix or a combined pedigree-genomic matrix. High heritabilities (around 0.30) were estimated for lactose and protein content in milk whereas moderate values (between 0.19 and 0.26) were obtained for percentages of fat, saturated fatty acids and palmitic acid in milk. Genetic correlations ranging from -0.38 to -0.13 were determined between milk yield and composition traits. The smaller estimates compared to other similar studies can be due to poor environmental conditions, which may reduce genetic variability. These results highlight the importance in using genetic parameters estimated in the population under evaluation for selection decisions.


Asunto(s)
Bovinos/clasificación , Bovinos/genética , Ácidos Grasos/análisis , Leche/química , Animales , Bovinos/fisiología , Clima , Femenino , Genotipo , Leche/economía , Linaje , Polimorfismo de Nucleótido Simple
15.
Biol Reprod ; 93(2): 52, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26178716

RESUMEN

This study aimed to characterize the endometrial transcriptome and functional pathways overrepresented in the endometrium of cows treated to ovulate larger (≥13 mm) versus smaller (≤12 mm) follicles. Nelore cows were presynchronized prior to receiving cloprostenol (large follicle [LF] group) or not (small follicle [SF] group), along with a progesterone (P4) device on Day (D) -10. Devices were withdrawn and cloprostenol administered 42-60 h (LF) or 30-36 h (SF) before GnRH agonist treatment (D0). Tissues were collected on D4 (experiment [Exp.] 1; n = 24) or D7 (Exp. 2; n = 60). Endometrial transcriptome was obtained by RNA-Seq, whereas proliferation and apoptosis were assessed by immunohistochemistry. Overall, LF cows developed larger follicles and corpora lutea, and produced greater amounts of estradiol (D-1, Exp. 1, SF: 0.7 ± 0.2; LF: 2.4 ± 0.2 pg/ml; D-1, Exp. 2, SF: 0.5 ± 0.1; LF: 2.3 ± 0.6 pg/ml) and P4 (D4, Exp. 1, SF: 0.8 ± 0.1; LF: 1.4 ± 0.2 ng/ml; D7, Exp. 2, SF: 2.5 ± 0.4; LF: 3.7 ± 0.4 ng/ml). Functional enrichment indicated that biosynthetic and metabolic processes were enriched in LF endometrium, whereas SF endometrium transcriptome was biased toward cell proliferation. Data also suggested reorganization of the extracellular matrix toward a proliferation-permissive phenotype in SF endometrium. LF endometrium showed an earlier onset of proliferative activity, whereas SF endometrium expressed a delayed increase in glandular epithelium proliferation. In conclusion, the periovulatory endocrine milieu regulates bovine endometrial transcriptome and seems to determine the transition from a proliferation-permissive to a biosynthetic and metabolically active endometrial phenotype, which may be associated with the preparation of an optimally receptive uterine environment.


Asunto(s)
Diestro/fisiología , Endometrio/metabolismo , Transcriptoma/genética , Animales , Apoptosis , Caspasa 3/fisiología , Bovinos , Proliferación Celular , Cloprostenol/farmacología , Biología Computacional , Endometrio/crecimiento & desarrollo , Activación Enzimática/fisiología , Matriz Extracelular/metabolismo , Femenino , Luteolíticos/farmacología , Folículo Ovárico/efectos de los fármacos , Folículo Ovárico/ultraestructura , Embarazo
16.
Rapid Commun Mass Spectrom ; 29(17): 1571-1576, 2015 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-28339150

RESUMEN

RATIONALE: The ion-ion-coincidence mass spectroscopy technique brings useful information about the fragmentation dynamics of doubly and multiply charged ionic species. We advocate the use of a matrix-parameter methodology in order to represent and interpret the entire ion-ion spectra associated with the ionic dissociation of doubly charged molecules. This method makes it possible, among other things, to infer fragmentation processes and to extract information about overlapped ion-ion coincidences. This important piece of information is difficult to obtain from other previously described methodologies. METHODS: A Wiley-McLaren time-of-flight mass spectrometer was used to discriminate the positively charged fragment ions resulting from the sample ionization by a pulsed 800 eV electron beam. We exemplify the application of this methodology by analyzing the fragmentation and ionic dissociation of the dimethyl disulfide (DMDS) molecule as induced by fast electrons. The doubly charged dissociation was analyzed using the Multivariate Normal Distribution. RESULTS: The ion-ion spectrum of the DMDS molecule was obtained at an incident electron energy of 800 eV and was matrix represented using the Multivariate Distribution theory. The proposed methodology allows us to distinguish information among [CHn SHn ]+ /[CH3 ]+ (n = 1-3) fragment ions in the ion-ion coincidence spectra using ion-ion coincidence data. Using the momenta balance methodology for the inferred parameters, a secondary decay mechanism is proposed for the [CHS]+ ion formation. As an additional check on the methodology, previously published data on the SiF4 molecule was re-analyzed with the present methodology and the results were shown to be statistically equivalent. CONCLUSIONS: The use of a Multivariate Normal Distribution allows for the representation of the whole ion-ion mass spectrum of doubly or multiply ionized molecules as a combination of parameters and the extraction of information among overlapped data. We have successfully applied this methodology to the analysis of the fragmentation of the DMDS molecule. Copyright © 2015 John Wiley & Sons, Ltd.

17.
Anim Genet ; 46(2): 158-63, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25690762

RESUMEN

Genetic improvement is important for the poultry industry, contributing to increased efficiency of meat production and quality. Because breast muscle is the most valuable part of the chicken carcass, knowledge of polymorphisms influencing this trait can help breeding programs. Therefore, the complete genome of 18 chickens from two different experimental lines (broiler and layer) from EMBRAPA was sequenced, and SNPs and INDELs were detected in a QTL region for breast muscle deposition on chicken chromosome 2 between microsatellite markers MCW0185 and MCW0264 (105,849-112,649 kb). Initially, 94,674 unique SNPs and 10,448 unique INDELs were identified in the target region. After quality filtration, 77% of the SNPs (85,765) and 60% of the INDELs (7828) were retained. The studied region contains 66 genes, and functional annotation of the filtered variants identified 517 SNPs and three INDELs in exonic regions. Of these, 357 SNPs were classified as synonymous, 153 as non-synonymous, three as stopgain, four INDELs as frameshift and three INDELs as non-frameshift. These exonic mutations were identified in 37 of the 66 genes from the target region, three of which are related to muscle development (DTNA, RB1CC1 and MOS). Fifteen non-tolerated SNPs were detected in several genes (MEP1B, PRKDC, NSMAF, TRAPPC8, SDR16C5, CHD7, ST18 and RB1CC1). These loss-of-function and exonic variants present in genes related to muscle development can be considered candidate variants for further studies in chickens. Further association studies should be performed with these candidate mutations as should validation in commercial populations to allow a better explanation of QTL effects.


Asunto(s)
Pollos/genética , Mutación INDEL , Músculo Esquelético/crecimiento & desarrollo , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo , Animales , Cruzamiento , Carne , Repeticiones de Microsatélite
18.
Anim Genet ; 46(2): 141-7, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25643900

RESUMEN

Abdominal fat content is an economically important trait in commercially bred chickens. Although many quantitative trait loci (QTL) related to fat deposition have been detected, the resolution for these regions is low and functional variants are still unknown. The current study was conducted aiming at increasing resolution for a region previously shown to have a QTL associated with fat deposition, to detect novel variants from this region and to annotate those variants to delineate potentially functional ones as candidates for future studies. To achieve this, 18 chickens from a parental generation used in a reciprocal cross between broiler and layer lines were sequenced using the Illumina next-generation platform with an initial coverage of 18X/chicken. The discovery of genetic variants was performed in a QTL region located on chromosome 3 between microsatellite markers LEI0161 and ADL0371 (33,595,706-42,632,651 bp). A total of 136,054 unique SNPs and 15,496 unique INDELs were detected in this region, and after quality filtering, 123,985 SNPs and 11,298 INDELs were retained. Of these variants, 386 SNPs and 15 INDELs were located in coding regions of genes related to important metabolic pathways. Loss-of-function variants were identified in several genes, and six of those, namely LOC771163, EGLN1, GNPAT, FAM120B, THBS2 and GGPS1, were related to fat deposition. Therefore, these loss-of-function variants are candidate mutations for conducting further studies on this important trait in chickens.


Asunto(s)
Grasa Abdominal , Adiposidad/genética , Pollos/genética , Sitios de Carácter Cuantitativo , Animales , Mapeo Cromosómico/veterinaria , Mutación INDEL , Repeticiones de Microsatélite , Polimorfismo de Nucleótido Simple
19.
Genet Mol Res ; 14(3): 10717-28, 2015 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-26400301

RESUMEN

Genetic selection for production traits has resulted in a rapid improvement in animal performance and development. Previous studies have mapped quantitative trait loci for body weight at 35 and 41 days, and drum and thigh yield, onto chicken chromosome 4. We investigated this region for single nucleotide polymorphisms and their associations with important economic traits. Three positional candidate genes were studied: KLF3 (Krüeppel-like factor 3), SLIT2 (Slit homolog 2), and PPARGC1A (peroxisome proliferator-activated receptor gamma, coactivator 1 alpha). Fragment sequencing of these genes was conducted in 11 F1 animals, and one polymorphism in each gene was selected and genotyped in an F2 population (N = 276) and a paternal broiler line TT (N = 840). Associations were identified with growth, carcass, and fat traits in the F2 and the paternal line (P < 0.05). Using single markers in both the F2 and the TT line, KLF3 was associated with weight gain (P < 0.05), PPPARGC1A was associated with liver and wing-parts weights and yields (P < 0.05), and SLIT2 was associated with back yield (P < 0.05) and fat traits (P < 0.05). Using multiple markers, KLF3 lost its significance in both populations, and SLIT2 was associated with feed conversion only in the TT population (P < 0.05). The QTLs mapped in the F2 population could be partly explained by PPARGC1A and SLIT2, which were associated with body weight at 35 and 41 days, respectively, and with drum and thigh yield in the same population. The results of this study indicate the importance of these genes for production traits.


Asunto(s)
Cromosomas/química , Péptidos y Proteínas de Señalización Intercelular/genética , Carne , Proteínas del Tejido Nervioso/genética , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo , Factores de Transcripción/genética , Tejido Adiposo/anatomía & histología , Tejido Adiposo/metabolismo , Animales , Peso Corporal/genética , Pollos , Mapeo Cromosómico , Femenino , Expresión Génica , Genotipo , Factores de Transcripción de Tipo Kruppel/genética , Hígado/anatomía & histología , Hígado/metabolismo , Masculino , Tamaño de los Órganos/genética , Fenotipo , Carácter Cuantitativo Heredable , Alas de Animales/anatomía & histología , Alas de Animales/metabolismo
20.
Reprod Domest Anim ; 50(2): 251-255, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25601226

RESUMEN

This study aimed to evaluate the sonographic characteristics of the udder and teats and to determine the Doppler indexes of mammary artery in healthy and undergoing subclinical and clinical mastitis goats. Thirty animals among Saanen and Alpine Brown goats were arranged in three groups, healthy goats (HG), goats with subclinical mastitis (SMG) and goats with clinical mastitis (CMG). Using the B-mode, the sonographic characteristics (echotexture and echogenicity) and biometry (diameter and area of the udder cistern, diameter and area of the teat cistern and thickness of the teat wall) were evaluated. Using Doppler ultrasonography, the vascular indexes of the mammary artery were obtained. It was observed hyperechogenicity with solid component in the gland cistern when comparing animals with clinical mastitis and healthy mammary tissue. Regarding the echotexture of the breast tissue, there was heterogeneity in the mammary parenchyma on the three groups, for the milk, it was observed homogeneity for animals on HG and SMG and heterogeneity for animals on CMG. Grey-scale quantitative assessment revealed increase in echogenicity (mean value) for all the structures when comparing the three groups. Biometry did not reveal statistical difference between groups, for none of the evaluated structures. Doppler examination of the mammary artery showed the decrease of end diastolic velocity and raise of pulsatility index between groups. The association of B-mode and Doppler ultrasonography is useful for the evaluation of the udder of dairy goats with mastitis. It is a sensitive and specific method for the study of this disease. Doppler mode was unable to establish reliable criteria for diagnosis of subclinical mastitis. Moreover, the quantification of echogenicity is a useful technique for the evaluation of the milk in animals with mastitis; therefore, it is suggested that it can be used as complementary technique for the diagnosis of mastitis in goats.


Asunto(s)
Enfermedades de las Cabras/diagnóstico , Glándulas Mamarias Animales/diagnóstico por imagen , Mastitis/veterinaria , Ultrasonografía/veterinaria , Animales , Femenino , Enfermedades de las Cabras/diagnóstico por imagen , Enfermedades de las Cabras/patología , Cabras , Glándulas Mamarias Animales/irrigación sanguínea , Glándulas Mamarias Animales/patología , Mastitis/diagnóstico , Mastitis/diagnóstico por imagen , Ultrasonografía/métodos
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