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1.
Cleft Palate Craniofac J ; : 10556656241236078, 2024 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-38389267

RESUMO

OBJECTIVES: 1. To assess the skeletal class occlusion and lateral cephalometry in children with isolated cleft palates (non-Robin sequence) and 2. to identify associations between these findings and pre-palatoplasty cleft palate measurements. STUDY DESIGN: Retrospective cohort study. SETTING: North American Institutional Tertiary Paediatric Center. PATIENTS: Our cleft database was reviewed, and patients were included if they had an isolated cleft palate without a Robin Sequence diagnosis, had a Furlow palatoplasty and had available per operative cleft palate measurements and available lateral cephalogram between 6 and 8 years old. Thirty-two patients matched to inclusion criteria. INTERVENTION: Furlow's Palatoplasty. MAIN OUTCOME AND MEASURES: Cleft size at palatoplasty, cephalometric measurements and skeletal occlusal classes were analysed. ANOVA was used to test the association between cephalometric measurements and occlusal classes. Results are presented as means with a 95% confidence interval. The association between cleft measurements and cephalometric parameters was tested with Spearman Correlation (rs). RESULTS: The skeletal occlusal outcome at 7 years old for this series of patients was: Class I: 19%; Class II: 59% and Class III: 22%. No single cleft measurement at palatoplasty was predictive of the skeletal occlusal outcome. A larger hard palate cleft was associated with a shorter antero-posterior maxilla. CONCLUSIONS: The skeletal occlusal class outcomes were similar to those found in a previous study in the literature. The occlusal prognosis appears to be better than in patients with Robin Sequence or with an associated cleft lip. No preoperative measurement was found to be associated with the occlusal outcome.

2.
Nucleic Acids Res ; 42(6): 3768-82, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24452801

RESUMO

Genomic imprinting is an epigenetic mechanism by which alleles of some specific genes are expressed in a parent-of-origin manner. It has been observed in mammals and marsupials, but not in birds. Until now, only a few genes orthologous to mammalian imprinted ones have been analyzed in chicken and did not demonstrate any evidence of imprinting in this species. However, several published observations such as imprinted-like QTL in poultry or reciprocal effects keep the question open. Our main objective was thus to screen the entire chicken genome for parental-allele-specific differential expression on whole embryonic transcriptomes, using high-throughput sequencing. To identify the parental origin of each observed haplotype, two chicken experimental populations were used, as inbred and as genetically distant as possible. Two families were produced from two reciprocal crosses. Transcripts from 20 embryos were sequenced using NGS technology, producing ∼200 Gb of sequences. This allowed the detection of 79 potentially imprinted SNPs, through an analysis method that we validated by detecting imprinting from mouse data already published. However, out of 23 candidates tested by pyrosequencing, none could be confirmed. These results come together, without a priori, with previous statements and phylogenetic considerations assessing the absence of genomic imprinting in chicken.


Assuntos
Galinhas/genética , Impressão Genômica , Transcriptoma , Animais , Embrião de Galinha , Feminino , Perfilação da Expressão Gênica , Regulação da Expressão Gênica no Desenvolvimento , Sequenciamento de Nucleotídeos em Larga Escala , Masculino , Camundongos , Camundongos Endogâmicos DBA , Polimorfismo de Nucleotídeo Único , Análise de Sequência de RNA
3.
BMC Genomics ; 16: 10, 2015 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-25609057

RESUMO

BACKGROUND: Behavioral traits such as sociability, emotional reactivity and aggressiveness are major factors in animal adaptation to breeding conditions. In order to investigate the genetic control of these traits as well as their relationships with production traits, a study was undertaken on a large second generation cross (F2) between two lines of Japanese Quail divergently selected on their social reinstatement behavior. All the birds were measured for several social behaviors (social reinstatement, response to social isolation, sexual motivation, aggression), behaviors measuring the emotional reactivity of the birds (reaction to an unknown object, tonic immobility reaction), and production traits (body weight and egg production). RESULTS: We report the results of the first genome-wide QTL detection based on a medium density SNP panel obtained from whole genome sequencing of a pool of individuals from each divergent line. A genetic map was constructed using 2145 markers among which 1479 could be positioned on 28 different linkage groups. The sex-averaged linkage map spanned a total of 3057 cM with an average marker spacing of 2.1 cM. With the exception of a few regions, the marker order was the same in Japanese Quail and the chicken, which confirmed a well conserved synteny between the two species. The linkage analyses performed using QTLMAP software revealed a total of 45 QTLs related either to behavioral (23) or production (22) traits. The most numerous QTLs (15) concerned social motivation traits. Interestingly, our results pinpointed putative pleiotropic regions which controlled emotional reactivity and body-weight of birds (on CJA5 and CJA8) or their social motivation and the onset of egg laying (on CJA19). CONCLUSION: This study identified several QTL regions for social and emotional behaviors in the Quail. Further research will be needed to refine the QTL and confirm or refute the role of candidate genes, which were suggested by bioinformatics analysis. It can be hoped that the identification of genes and polymorphisms related to behavioral traits in the quail will have further applications for other poultry species (especially the chicken) and will contribute to solving animal welfare issues in poultry production.


Assuntos
Coturnix/genética , Locos de Características Quantitativas , Animais , Galinhas/genética , Mapeamento Cromossômico , Ligação Genética , Genoma , Polimorfismo de Nucleotídeo Único , Reprodução/genética , Análise de Sequência de DNA , Comportamento Sexual Animal , Comportamento Social
4.
Cell Microbiol ; 15(4): 619-46, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23107293

RESUMO

Toxoplasma and Chlamydia trachomatis are obligate intracellular pathogens that have evolved analogous strategies to replicate within mammalian cells. Both pathogens are known to extensively remodel the cytoskeleton, and to recruit endocytic and exocytic organelles to their respective vacuoles. However, how important these activities are for infectivity by either pathogen remains elusive. Here, we have developed a novel co-infection system to gain insights into the developmental cycles of Toxoplasma and C. trachomatis by infecting human cells with both pathogens, and examining their respective ability to replicate and scavenge nutrients. We hypothesize that the common strategies used by Toxoplasma and Chlamydia to achieve development results in direct competition of the two pathogens for the same pool of nutrients. We show that a single human cell can harbour Chlamydia and Toxoplasma. In co-infected cells, Toxoplasma is able to divert the content of host organelles, such as cholesterol. Consequently, the infectious cycle of Toxoplasma progresses unimpeded. In contrast, Chlamydia's ability to scavenge selected nutrients is diminished, and the bacterium shifts to a stress-induced persistent growth. Parasite killing engenders an ordered return to normal chlamydial development. We demonstrate that C. trachomatis enters a stress-induced persistence phenotype as a direct result from being barred from its normal nutrient supplies as addition of excess nutrients, e.g. amino acids, leads to substantial recovery of Chlamydia growth and infectivity. Co-infection of C. trachomatis with slow growing strains of Toxoplasma or a mutant impaired in nutrient acquisition does not restrict chlamydial development. Conversely, Toxoplasma growth is halted in cells infected with the highly virulent Chlamydia psittaci. This study illustrates the key role that cellular remodelling plays in the exploitation of host intracellular resources by Toxoplasma and Chlamydia. It further highlights the delicate balance between success and failure of infection by intracellular pathogens in a co-infection system at the cellular level.


Assuntos
Chlamydia trachomatis/crescimento & desenvolvimento , Chlamydia trachomatis/metabolismo , Alimentos , Toxoplasma/crescimento & desenvolvimento , Toxoplasma/metabolismo , Células Cultivadas , Humanos , Interações Microbianas , Estresse Fisiológico
5.
Genet Sel Evol ; 46: 25, 2014 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-24708200

RESUMO

BACKGROUND: Improving digestive efficiency is a major goal in poultry production, to reduce production costs, make possible the use of alternative feedstuffs and decrease the volume of manure produced. Since measuring digestive efficiency is difficult, identifying molecular markers associated with genes controlling this trait would be a valuable tool for selection. Detection of QTL (quantitative trait loci) was undertaken on 820 meat-type chickens in a F2 cross between D- and D+ lines divergently selected on low or high AMEn (apparent metabolizable energy value of diet corrected to 0 nitrogen balance) measured at three weeks in animals fed a low-quality diet. Birds were measured for 13 traits characterizing digestive efficiency (AMEn, coefficients of digestive utilization of starch, lipids, proteins and dry matter (CDUS, CDUL, CDUP, CDUDM)), anatomy of the digestive tract (relative weights of the proventriculus, gizzard and intestine and proventriculus plus gizzard (RPW, RGW, RIW, RPGW), relative length and density of the intestine (RIL, ID), ratio of proventriculus and gizzard to intestine weight (PG/I); and body weight at 23 days of age. Animals were genotyped for 6000 SNPs (single nucleotide polymorphisms) distributed on 28 autosomes, the Z chromosome and one unassigned linkage group. RESULTS: Nine QTL for digestive efficiency traits, 11 QTL for anatomy-related traits and two QTL for body weight at 23 days of age were detected. On chromosome 20, two significant QTL at the genome level co-localized for CDUS and CDUDM, i.e. two traits that are highly correlated genetically. Moreover, on chromosome 16, chromosome-wide QTL for AMEn, CDUS, CDUDM and CDUP, on chromosomes 23 and 26, chromosome-wide QTL for CDUS, on chromosomes 16 and 26, co-localized QTL for digestive efficiency and the ratio of intestine length to body weight and on chromosome 27 a chromosome-wide QTL for CDUDM were identified. CONCLUSIONS: This study identified several regions of the chicken genome involved in the control of digestive efficiency. Further studies are necessary to identify the underlying genes and to validate these in commercial populations and breeding environments.


Assuntos
Ração Animal , Galinhas/genética , Locos de Características Quantitativas , Fenômenos Fisiológicos da Nutrição Animal , Animais , Peso Corporal , Galinhas/anatomia & histologia , Galinhas/fisiologia , Feminino , Trato Gastrointestinal/anatomia & histologia , Trato Gastrointestinal/fisiologia , Genoma , Masculino , Triticum/metabolismo
6.
Eukaryot Cell ; 12(2): 265-77, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23243063

RESUMO

The prokaryote Chlamydia trachomatis and the protozoan Toxoplasma gondii, two obligate intracellular pathogens of humans, have evolved a similar modus operandi to colonize their host cell and salvage nutrients from organelles. In order to gain fundamental knowledge on the pathogenicity of these microorganisms, we have established a cell culture model whereby single fibroblasts are coinfected by C. trachomatis and T. gondii. We previously reported that the two pathogens compete for the same nutrient pools in coinfected cells and that Toxoplasma holds a significant competitive advantage over Chlamydia. Here we have expanded our coinfection studies by examining the respective abilities of Chlamydia and Toxoplasma to co-opt the host cytoskeleton and recruit organelles. We demonstrate that the two pathogen-containing vacuoles migrate independently to the host perinuclear region and rearrange the host microtubular network around each vacuole. However, Toxoplasma outcompetes Chlamydia to the host microtubule-organizing center to the detriment of the bacterium, which then shifts to a stress-induced persistent state. Solely in cells preinfected with Chlamydia, the centrosomes become associated with the chlamydial inclusion, while the Toxoplasma parasitophorous vacuole displays growth defects. Both pathogens fragment the host Golgi apparatus and recruit Golgi elements to retrieve sphingolipids. This study demonstrates that the productive infection by both Chlamydia and Toxoplasma depends on the capability of each pathogen to successfully adhere to a finely tuned developmental program that aims to remodel the host cell for the pathogen's benefit. In particular, this investigation emphasizes the essentiality of host organelle interception by intravacuolar pathogens to facilitate access to nutrients.


Assuntos
Infecções por Chlamydia/microbiologia , Chlamydia/fisiologia , Toxoplasma/fisiologia , Toxoplasmose/parasitologia , Células Cultivadas , Centrossomo/metabolismo , Centrossomo/microbiologia , Centrossomo/parasitologia , Ceramidas/metabolismo , Infecções por Chlamydia/parasitologia , Infecções por Chlamydia/patologia , Coinfecção , Fibroblastos/microbiologia , Fibroblastos/parasitologia , Fibroblastos/patologia , Complexo de Golgi/microbiologia , Complexo de Golgi/parasitologia , Complexo de Golgi/patologia , Interações Hospedeiro-Parasita , Interações Hospedeiro-Patógeno , Humanos , Membranas Intracelulares/metabolismo , Membranas Intracelulares/microbiologia , Membranas Intracelulares/parasitologia , Viabilidade Microbiana , Microtúbulos/metabolismo , Microtúbulos/microbiologia , Microtúbulos/parasitologia , Mitocôndrias/microbiologia , Mitocôndrias/parasitologia , Mitocôndrias/patologia , Toxoplasmose/microbiologia , Toxoplasmose/patologia , Vacúolos/microbiologia , Vacúolos/parasitologia
7.
Ear Nose Throat J ; : 1455613241247729, 2024 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-38591784

RESUMO

Context: Human papillomavirus (HPV)-related multiphenotypic sinonasal carcinoma (HMSC), formerly known as HPV-related carcinoma with adenoid cystic like features, is a rare tumor subtype with unusual correlation between radiological, histopathological, and surgical findings. The shared histological characteristics with other sinonasal tumors make the diagnosis challenging. Optimal surgical and oncological treatments for this rare condition remains to be clearly defined. Methods: The objective of the study was to describe the unique characteristics and endoscopic surgical treatment of this rare tumor. In this retrospective case series, all patients with an HMSC diagnosis treated in our tertiary center were selected. Results: Three HMSC cases were identified, including 2 male and 1 female patients. All cases originated from the posterior nasal cavity. One case presented with a tumor of 8.9 cm × 6.4 cm × 8.7 cm, which is the largest tumor volume described to date. All patients received exclusively endoscopic surgical treatment, followed by adjuvant radiation therapy. No patient showed clinical or radiological sign of disease recurrence, or regional or distant metastasis, with a follow-up ranging from 9 months to 4 years. In 2 cases, initial diagnoses incorrectly suggested adenoid cystic or basaloid squamous cell carcinoma. HPV-DNA testing confirmed the presence of HPV in all cases, with identification of strains 16 and 18. Conclusion and Relevance: HMSC represents a newly identified diagnosis that constitutes a significant challenge for both clinicians and pathologists. It is crucial to acknowledge its indolent clinical course and the apparent contradiction between aggressive radiological features and the noninvasive nature of surgical findings. Skull base surgeons should be aware that, despite these complexities, endoscopic treatment is achievable in the majority of cases. This understanding is essential for the effective management of HMSC.

8.
BMC Genomics ; 13: 551, 2012 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-23066875

RESUMO

BACKGROUND: As for other non-model species, genetic analyses in quail will benefit greatly from a higher marker density, now attainable thanks to the evolution of sequencing and genotyping technologies. Our objective was to obtain the first genome wide panel of Japanese quail SNP (Single Nucleotide Polymorphism) and to use it for the fine mapping of a QTL for a fear-related behaviour, namely tonic immobility, previously localized on Coturnix japonica chromosome 1. To this aim, two reduced representations of the genome were analysed through high-throughput 454 sequencing: AFLP (Amplified Fragment Length Polymorphism) fragments as representatives of genomic DNA, and EST (Expressed Sequence Tag) as representatives of the transcriptome. RESULTS: The sequencing runs produced 399,189 and 1,106,762 sequence reads from cDNA and genomic fragments, respectively. They covered over 434 Mb of sequence in total and allowed us to detect 17,433 putative SNP. Among them, 384 were used to genotype two Advanced Intercross Lines (AIL) obtained from three quail lines differing for duration of tonic immobility. Despite the absence of genotyping for founder individuals in the analysis, the previously identified candidate region on chromosome 1 was refined and led to the identification of a candidate gene. CONCLUSIONS: These data confirm the efficiency of transcript and AFLP-sequencing for SNP discovery in a non-model species, and its application to the fine mapping of a complex trait. Our results reveal a significant association of duration of tonic immobility with a genomic region comprising the DMD (dystrophin) gene. Further characterization of this candidate gene is needed to decipher its putative role in tonic immobility in Coturnix.


Assuntos
Proteínas Aviárias/genética , Mapeamento Cromossômico , Coturnix/genética , Distrofina/genética , Estudos de Associação Genética , Genoma , Resposta de Imobilidade Tônica , Análise do Polimorfismo de Comprimento de Fragmentos Amplificados , Animais , Galinhas/genética , Cromossomos , Cruzamentos Genéticos , Etiquetas de Sequências Expressas , Feminino , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Transcriptoma
9.
Infect Immun ; 79(8): 3445-54, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21628520

RESUMO

Toll-like receptor 4 (TLR4), which recognizes lipopolysaccharide from Gram-negative bacteria, plays a major role in resistance of mice and humans to Salmonella infection. In chickens, Salmonella may establish a carrier state whereby bacteria are able to persist in the host organism without triggering clinical signs. Based on cellular morphological parameters, we developed a method, without using antibodies, to separate three cecal cell subpopulations: lymphocytes, enterocytes, and a population encompassing multiple cell types. We analyzed the mRNA expression of TLR4, interleukin-1ß (IL-1ß), IL-8, IL-12, and lipopolysaccharide-induced tumor necrosis factor alpha factor (LITAF) in cecal subpopulations of chicks from inbred lines resistant or susceptible to the carrier state infected with Salmonella enterica serovar Enteritidis. The results showed that resistance to the carrier state in chicks is associated with a larger percentage of lymphocytes and with higher levels of expression of TLR4 and IL-8 at homeostasis in the three cell subpopulations, as well as with a higher level of expression of LITAF in lymphocytes during the carrier state. In contrast to the early phase of infection, the carrier state is characterized by no major cell recruitment differences between infected and noninfected animals and no significant modification in terms of TLR4, IL-1ß, IL-8, IL-12, and LITAF expression in all cell subpopulations measured. However, TLR4 expression increased in the lymphocytes of chicks from the susceptible line, reaching the same level as that in infected chicks from the resistant line. These observations suggest that the carrier state is characterized by a lack of immune activation and highlight the interest of working at the level of the cell population rather than that of the organ.


Assuntos
Portador Sadio/imunologia , Expressão Gênica , Salmonelose Animal/imunologia , Salmonella enteritidis/imunologia , Receptor 4 Toll-Like/biossíntese , Animais , Portador Sadio/microbiologia , Ceco/imunologia , Galinhas , Citocinas/biossíntese , Enterócitos/imunologia , Perfilação da Expressão Gênica , Linfócitos/imunologia
10.
Mol Genet Genomics ; 285(3): 237-43, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21279652

RESUMO

Chicken's ability to carry Salmonella without displaying disease symptoms leads to an invisible propagation of Salmonella in poultry stocks. Using chicken lines more resistant to carrier state could improve both animal health and food safety. Previous studies identified several QTL for resistance to carrier state. To improve genome coverage and QTL detection power we produced a new set of 480 informative SNP markers and genotyped a larger number of animals. Ten additional microchromosomes could be covered when compared with previous studies. These new data led to the identification of 18 QTL significant at the chromosome-wide level. The only QTL significant at the genome-wide level were identified on microchromosomes 14 and 22 and have never been identified previously. Using a higher number of animals improved the power and the precision of QTL detection. Some of the QTL newly identified are located close to candidate genes or microsatellite markers previously identified for their involvement in the genetic control of resistance to Salmonella, which confirms their interest for selection purposes.


Assuntos
Portador Sadio/veterinária , Galinhas/genética , Galinhas/microbiologia , Doenças das Aves Domésticas/genética , Doenças das Aves Domésticas/microbiologia , Locos de Características Quantitativas , Salmonelose Animal/genética , Animais , Portador Sadio/microbiologia , Polimorfismo de Nucleotídeo Único
11.
BMC Genomics ; 11: 107, 2010 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-20149241

RESUMO

BACKGROUND: Delineating the genetic basis of body composition is important to agriculture and medicine. In addition, the incorporation of gene-gene interactions in the statistical model provides further insight into the genetic factors that underlie body composition traits. We used Bayesian model selection to comprehensively map main, epistatic and sex-specific QTL in an F2 reciprocal intercross between two chicken lines divergently selected for high or low growth rate. RESULTS: We identified 17 QTL with main effects across 13 chromosomes and several sex-specific and sex-antagonistic QTL for breast meat yield, thigh + drumstick yield and abdominal fatness. Different sets of QTL were found for both breast muscles [Pectoralis (P) major and P. minor], which suggests that they could be controlled by different regulatory mechanisms. Significant interactions of QTL by sex allowed detection of sex-specific and sex-antagonistic QTL for body composition and abdominal fat. We found several female-specific P. major QTL and sex-antagonistic P. minor and abdominal fatness QTL. Also, several QTL on different chromosomes interact with each other to affect body composition and abdominal fatness. CONCLUSIONS: The detection of main effects, epistasis and sex-dimorphic QTL suggest complex genetic regulation of somatic growth. An understanding of such regulatory mechanisms is key to mapping specific genes that underlie QTL controlling somatic growth in an avian model.


Assuntos
Composição Corporal/genética , Galinhas/genética , Mapeamento Cromossômico , Locos de Características Quantitativas , Gordura Abdominal , Animais , Teorema de Bayes , Galinhas/crescimento & desenvolvimento , Cruzamentos Genéticos , Epistasia Genética , Feminino , Genótipo , Masculino , Carne , Análise de Sequência de DNA , Caracteres Sexuais
12.
J Theor Biol ; 267(4): 595-604, 2010 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-20883702

RESUMO

Salmonella is one of the major sources of toxi-infection in humans, most often because of consumption of poultry products. The main reason for this association is the presence in hen flocks of silent carriers, i.e. animals harboring Salmonella without expressing any visible symptoms. Many prophylactic means have been developed to reduce the prevalence of Salmonella carrier-state. While none allows a total reduction of the risk, synergy could result in a drastic reduction of it. Evaluating the risk by modeling would be very useful to estimate such gain in food safety. Here, we propose an individual-based model which describes the spatio-temporal spread of Salmonella within a laying flock and takes into account the host response to bacterial infection. The model includes the individual bacterial load and the animals' ability to reduce it thanks to the immune response, i.e. maximum bacterial dose that the animals may resist without long term carriage and, when carriers, length of bacterial clearance. For model validation, we simulated the Salmonella spread under published experimental conditions. There was a good agreement between simulated and observed published data. This model will thus allow studying the effects, on the spatiotemporal distribution of the bacteria, of both mean and variability of different elements of host response.


Assuntos
Galinhas/microbiologia , Modelos Biológicos , Oviposição/fisiologia , Salmonelose Animal/epidemiologia , Salmonelose Animal/transmissão , Salmonella/fisiologia , Animais , Carga Bacteriana , Calibragem , Simulação por Computador , Meio Ambiente , Abrigo para Animais , Cinética , Reprodutibilidade dos Testes , Fatores de Tempo
13.
Genet Sel Evol ; 42: 11, 2010 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-20429884

RESUMO

Salmonellosis is a frequent disease in poultry stocks, caused by several serotypes of the bacterial species Salmonella enterica and sometimes transmitted to humans through the consumption of contaminated meat or eggs. Symptom-free carriers of the bacteria contribute greatly to the propagation of the disease in poultry stocks. So far, several candidate genes and quantitative trait loci (QTL) for resistance to carrier state or to acute disease have been identified using artificial infection of S. enterica serovar Enteritidis or S. enterica serovar Typhimurium strains in diverse genetic backgrounds, with several different infection procedures and phenotypic assessment protocols. This diversity in experimental conditions has led to a complex sum of results, but allows a more complete description of the disease. Comparisons among studies show that genes controlling resistance to Salmonella differ according to the chicken line studied, the trait assessed and the chicken's age. The loci identified are located on 25 of the 38 chicken autosomal chromosomes. Some of these loci are clustered in several genomic regions, indicating the possibility of a common genetic control for different models. In particular, the genomic regions carrying the candidate genes TLR4 and SLC11A1, the Major Histocompatibility Complex (MHC) and the QTL SAL1 are interesting for more in-depth studies. This article reviews the main Salmonella infection models and chicken lines studied under a historical perspective and then the candidate genes and QTL identified so far.


Assuntos
Portador Sadio/microbiologia , Galinhas , Locos de Características Quantitativas , Salmonelose Animal/genética , Salmonella/genética , Animais , Aves , Portador Sadio/imunologia , Proteínas de Transporte de Cátions , Galinhas/genética , Galinhas/imunologia , Galinhas/microbiologia , Cromossomos , Ovos , Regulação da Expressão Gênica , Carne , Aves Domésticas/genética , Aves Domésticas/imunologia , Salmonella/imunologia , Salmonelose Animal/imunologia
14.
Physiol Genomics ; 38(3): 241-9, 2009 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-19531576

RESUMO

Quantitative trait loci (QTL) for metabolic and body composition traits were mapped at 7 and 9 wk, respectively, in an F(2) intercross between high-growth and low-growth chicken lines. These lines also diverged for abdominal fat percentage (AFP) and plasma insulin-like growth factor-I (IGF-I), insulin, and glucose levels. Genotypings were performed with 129 microsatellite markers covering 21 chromosomes. A total of 21 QTL with genomewide level of significance were detected by single-trait analyses for body weight (BW), breast muscle weight (BMW) and percentage (BMP), AF weight (AFW) and percentage (AFP), shank length (ShL) and diameter (ShD), fasting plasma glucose level (Gluc), and body temperature (T(b)). Other suggestive QTL were identified for these parameters and for plasma IGF-I and nonesterified fatty acid levels. QTL controlling adiposity and Gluc were colocalized on GGA3 and GGA5 and QTL for BW, ShL and ShD, adiposity, and T(b) on GGA4. Multitrait analyses revealed two QTL controlling Gluc and AFP on GGA5 and Gluc and T(b) on GGA26. Significant effects of the reciprocal cross were observed on BW, ShD, BMW, and Gluc, which may result from mtDNA and/or maternal effects. Most QTL regions for Gluc and adiposity harbor genes for which alleles have been associated with increased susceptibility to diabetes and/or obesity in humans. Identification of genes responsible for these metabolic QTL will increase our understanding of the constitutive "hyperglycemia" found in chickens. Furthermore, a comparative approach could provide new information on the genetic causes of diabetes and obesity in humans.


Assuntos
Composição Corporal/genética , Galinhas/crescimento & desenvolvimento , Galinhas/genética , Locos de Características Quantitativas/genética , Animais , Glicemia/metabolismo , Galinhas/metabolismo , Mapeamento Cromossômico , Cromossomos/genética , Cruzamentos Genéticos , Ácidos Graxos não Esterificados/sangue , Feminino , Genótipo , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Fenótipo
15.
Genet Res (Camb) ; 91(3): 161-9, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19589186

RESUMO

Increasing resistance to acute salmonellosis (defined as bacteraemia in animals showing symptoms) is not sufficient for food safety, because of the risk of carrier state (when animals excrete bacteria without showing any symptoms). Increased resistance to Salmonella carrier state is therefore needed. Two experiments of divergent selection on resistance at a younger and a later age lead to significant differences between lines and allowed estimating genetic parameters on 4262 animals. Heritability of resistance was estimated at 0.16 in chicks, while it varied from 0.14 to 0.23 with analysed organ in adult hens. Genetic correlations between contamination of the different organs ranged from 0.46 to 0.67, while correlations between resistance at both ages were estimated at -0.50, showing that increasing genetic resistance of hens will reduce resistance in chicks. Highest estimated absolute values of genetic correlations between resistance and production traits were, for chicken contamination level, with number of eggs laid between 41 and 60 (0.37) and, for adult contamination, with number of eggs laid between 18 and 24 (0.37) or 25 and 40 (-0.33) weeks of age.


Assuntos
Portador Sadio , Galinhas/genética , Imunidade Inata/genética , Doenças das Aves Domésticas/genética , Salmonelose Animal/genética , Fatores Etários , Animais , Peso Corporal , Galinhas/microbiologia , Feminino , Microbiologia de Alimentos , Doenças das Aves Domésticas/imunologia , Doenças das Aves Domésticas/microbiologia , Salmonella/fisiologia , Salmonelose Animal/imunologia , Seleção Genética
16.
PeerJ ; 7: e7924, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31656705

RESUMO

Aortic valve regurgitation (AR) can result in heart failure from chronic overloading of the left ventricle (LV). Little is known of the role of estrogens in the LV responses to this condition. The aim of the study was to compare LV remodeling in female rats with severe AR in absence of estrogens by ovariectomy (Ovx). In a first study, we investigated over 6 months the development of hypertrophy in four groups of female Wistar rats: AR or sham-operated (sham) and Ovx or not. Ovx reduced normal heart growth. As expected, volume overload (VO) from AR resulted in significant LV dilation (42% and 32% increase LV end-diastolic diameter in intact and Ovx groups vs. their respective sham group; p < 0.0001). LV weight was also significantly and similarly increased in both AR groups (non-Ovx and Ovx). Increase in stroke volume or cardiac output and loss of systolic function were similar between AR intact and AR Ovx groups compared to sham. We then investigated what were the effects of 17beta-estradiol (E2; 0.03 mg/kg/day) treatment on the parameters studied in Ovx rats. Ovx reduced uterus weight by 85% and E2 treatment restored up to 65% of the normal weight. E2 also helped normalize heart size to normal values. On the other hand, it did not influence the extent of the hypertrophic response to AR. In fact, E2 treatment further reduced LV hypertrophy in AR Ovx rats (41% over Sham Ovx + E2). Systolic and diastolic functions parameters in AR Ovx + E2 were similar to intact AR animals. Ovx in sham rats had a significant effect on the LV gene expression of several hypertrophy markers. Atrial natriuretic peptide (Nppa) gene expression was reduced by Ovx in sham-operated females whereas brain natriuretic peptide (Nppb) expression was increased. Alpha (Myh6) and beta (Myh7) myosin heavy chain genes were also significantly modulated by Ovx in sham females. In AR rats, LV expression of both Nppa and Nppb genes were increased as expected. Ovx further increased it of AR rats for Nppa and did the opposite for Nppb. Interestingly, AR in Ovx rats had only minimal effects on Myh6 and Myh7 genes whereas they were modulated as expected for intact AR animals. In summary, loss of estrogens by Ovx in AR rats was not accompanied by a worsening of hypertrophy or cardiac function. Normal cardiac growth was reduced by Ovx in sham females but not the hypertrophic response to AR. On the other hand, Ovx had important effects on LV gene expression both in sham and AR female rats.

17.
Physiol Rep ; 7(9): e14088, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31054220

RESUMO

The aim of the study was to characterize if the development of cardiac hypertrophy (CH) caused by severe left ventricle (LV) volume overload (VO) from chronic aortic valve regurgitation (AR) in male rats was influenced by androgens. We studied Wistar rats with/without orchiectomy (Ocx) either sham-operated (S) or with severe AR for 26 weeks. Loss of testosterone induced by Ocx decreased general body growth. Cardiac hypertrophy resulting from AR was relatively more important in intact (non-Ocx) animals than in Ocx ones compared to their respective S group (60% vs. 40%; P = 0.019). The intact AR group had more LV dilation, end-diastolic LV diameter being increased by 37% over S group and by 17% in AROcx rats (P < 0.0001). Fractional shortening (an index of systolic function) decreased only by 15% in AROcx compared to 26% for intact AR animals (P = 0.029). Changes in LV gene expression resulting from CH were more marked in intact rats than in AROcx animals, especially for genes linked to extracellular matrix remodeling and energy metabolism. The ratio of hydroxyacyl-Coenzyme A dehydrogenase activity over hexokinase activity, an index of the shift of myocardial substrate use toward glucose from the preferred fatty acids, was significantly decreased in the AR group but not in AROcx. Finally, pJnk2 LV protein content was more abundant in AR than in AROcx rats, indicating decreased activation of this stress pathway in the absence of androgens. In summary, testosterone deficiency in rats with severe LV VO resulted in less CH and a normalization of the LV gene expression profile.


Assuntos
Cardiomegalia/prevenção & controle , Testosterona/deficiência , Animais , Insuficiência da Valva Aórtica/complicações , Biomarcadores/metabolismo , Cardiomegalia/diagnóstico por imagem , Cardiomegalia/etiologia , Cardiomegalia/metabolismo , Modelos Animais de Doenças , Ecocardiografia , Metabolismo Energético/fisiologia , Matriz Extracelular/metabolismo , Regulação da Expressão Gênica/fisiologia , Ventrículos do Coração/metabolismo , Hemodinâmica/fisiologia , Masculino , Orquiectomia , Ratos Wistar , Transdução de Sinais/fisiologia , Testosterona/fisiologia , Função Ventricular Esquerda/fisiologia , Remodelação Ventricular/fisiologia
18.
BMC Genet ; 9: 53, 2008 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-18706119

RESUMO

BACKGROUND: The qualitative properties of the meat are of major importance for poultry breeding, since meat is now widely consumed as cuts or as processed products. The aim of this study was to evaluate the genetic parameters of several breast meat quality traits and their genetic relationships with muscle characteristics in a heavy commercial line of broilers. RESULTS: Significant levels of heritability (averaging 0.3) were obtained for breast meat quality traits such as pH at 15 min post-slaughter, ultimate pH (pHu), color assessed by lightness L*, redness a* and yellowness b*, drip loss, thawing-cooking loss and shear-force. The rate of decrease in pH early post-mortem and the final pH of the meat were shown to be key factors of chicken meat quality. In particular, a decrease in the final pH led to paler, more exudative and tougher breast meat. The level of glycogen stored in breast muscle estimated by the Glycolytic Potential (GP) at slaughter time was shown to be highly heritable (h2 0.43). There was a very strong negative genetic correlation (rg) with ultimate meat pH (rg -0.97), suggesting a common genetic control for GP and pHu. While breast muscle weight was genetically positively correlated with fiber size (rg 0.76), it was negatively correlated with the level of glycogen stored in the muscle (rg -0.58), and as a consequence it was positively correlated with the final pH of the meat (rg 0.84). CONCLUSION: This genetic study confirmed that selection should be useful to improve meat characteristics of meat-type chickens without impairing profitability because no genetic conflict was detected between meat quality and meat quantity. Moreover, the results suggested relevant selection criteria such as ultimate pH, which is strongly related to color, water-holding capacity and texture of the meat in this heavy chicken line.


Assuntos
Galinhas/genética , Variação Genética , Carne/normas , Músculo Esquelético/crescimento & desenvolvimento , Animais , Composição Corporal/genética , Peso Corporal/genética , Galinhas/crescimento & desenvolvimento , Feminino , Masculino
19.
BMC Genomics ; 8: 155, 2007 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-17559654

RESUMO

BACKGROUND: Meat technological traits (i.e. meat pH, water retention and color) are important considerations for improving further processing of chicken meat. These quality traits were originally characterized in experimental lines selected for high (HG) and low (LG) growth. Presently, quantitative trait loci (QTL) for these traits were analyzed in an F2 population issued from the HG x LG cross. A total of 698 animals in 50 full-sib families were genotyped for 108 microsatellite markers covering 21 linkage groups. RESULTS: The HG and LG birds exhibit large differences in body weight and abdominal fat content. Several meat quality traits [pH at 15 min post-slaughter (pH15) and ultimate pH (pHu), breast color-redness (BCo-R) and breast color-yellowness (BCo-Y)] were lower in HG chickens. In contrast, meat color-lightness (BCo-L) was higher in HG chickens, whereas meat drip loss (DL) was similar in both lines. HG birds were more active on the shackle line. Association analyses were performed using maximum-likelihood interval mapping in QTLMAP. Five genome-wide significant QTLs were revealed: two for pH15 on GGA1 and GGA2, one for DL on GGA1, one for BCo-R and one for BCo-Y both on GGA11. In addition, four suggestive QTLs were identified by QTLMAP for BCo-Y, pHu, pH15 and DL on GGA1, GGA4, GGA12 and GGA14, respectively. The QTL effects, averaged on heterozygous families, ranged from 12 to 31% of the phenotypic variance. Further analyses with QTLExpress confirmed the two genome-wide QTLs for meat color on GGA11, failed to identify the genome-wide QTL for pH15 on GGA2, and revealed only suggestive QTLs for pH15 and DL on GGA1. However, QTLExpress qualified the QTL for pHu on GGA4 as genome-wide. CONCLUSION: The present study identified genome-wide significant QTLs for all meat technological traits presently assessed in these chickens, except for meat lightness. This study highlights the effects of divergent selection for growth rate on some behavioral traits, muscle biochemistry and ultimately meat quality traits. Several QTL regions were identified that are worthy of further characterization. Some QTLs may in fact co-localize, suggesting pleiotropic effects for some chromosomal regions.


Assuntos
Galinhas/crescimento & desenvolvimento , Galinhas/genética , Cruzamentos Genéticos , Carne/normas , Locos de Características Quantitativas/genética , Característica Quantitativa Herdável , Seleção Genética , Alelos , Animais , Composição Corporal , Peso Corporal , Segregação de Cromossomos , Cromossomos/genética , Feminino , Marcadores Genéticos , Masculino , Software
20.
Sci Rep ; 7(1): 729, 2017 04 07.
Artigo em Inglês | MEDLINE | ID: mdl-28389667

RESUMO

Aortic valve regurgitation (AR) imposes a volume overload (VO) to the left ventricle (LV). Male rats with a pathological heart overload usually progress more quickly towards heart failure than females. We examined whether a sexual dimorphism exists in the myocardial transcriptional adaptations to AR. Adult Wistar male and female rats either underwent a sham operation or were induced with AR and then followed for 26 weeks. Female AR rats gained relatively more LV mass than males (75 vs. 42%). They had a similar increase in LV chamber dimensions compared to males but more wall thickening. On the other hand, fatty acid oxidation (FAO)-related LV enzyme activity was only decreased in AR males. The expression of genes encoding FAO-related enzymes was only reduced in AR males and not in females. A similar situation was observed for the expression of genes involved in mitochondrial biogenesis or function as well as for genes encoding for transcription factors implicated in the control of bioenergetics and mitochondrial function (Errα, Errγ or Pgc1α). Although females develop more LV hypertrophy from severe VO, their myocardial gene expression remains closer to normal. This could provide survival benefits for females with severe VO.


Assuntos
Cardiomegalia/genética , Cardiomegalia/fisiopatologia , Hipertrofia Ventricular Esquerda/genética , Hipertrofia Ventricular Esquerda/fisiopatologia , Transcrição Gênica , Disfunção Ventricular Esquerda/genética , Disfunção Ventricular Esquerda/fisiopatologia , Animais , Biomarcadores , Biópsia , Cardiomegalia/diagnóstico por imagem , Cardiomegalia/patologia , Modelos Animais de Doenças , Ecocardiografia , Metabolismo Energético , Feminino , Testes de Função Cardíaca , Hemodinâmica , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/patologia , Masculino , Mitocôndrias Cardíacas/metabolismo , Ratos , Fatores Sexuais , Remodelação Ventricular
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