Base de dados : LILACS
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Id: lil-759435
Autor: Loch, Alexandre A.; van de Bilt, Martinus T.; Bio, Danielle S.; Prado, Carolina M. do; Sousa, Rafael T. de; Valiengo, Leandro L.; Moreno, Ricardo A.; Zanetti, Marcus V.; Gattaz, Wagner F..
Título: Epistasis between COMT Val158Met and DRD3 Ser9Gly polymorphisms and cognitive function in schizophrenia: genetic influence on dopamine transmission
Fonte: Rev. bras. psiquiatr;37(3):235-241, July-Sept. 2015. tab, ilus.
Idioma: en.
Resumo: Objective:To assess the relationship between cognitive function, a proposed schizophrenia endophenotype, and two genetic polymorphisms related to dopamine function, catechol-O-methyl transferase (COMT) Val158Met and dopamine receptor 3 (DRD3) Ser9Gly.Methods:Fifty-eight outpatients with schizophrenia/schizoaffective disorder and 88 healthy controls underwent neurocognitive testing and genotyping. Analyses of covariance (ANCOVAs) using age, sex, and years of education as covariates compared cognitive performance for the proposed genotypes in patients and controls. ANCOVAs also tested for the epistatic effect of COMT and DRD3 genotype combinations on cognitive performance.Results:For executive functioning, COMT Val/Val patients performed in a similar range as controls (30.70-33.26 vs. 35.53-35.67), but as COMT Met allele frequency increased, executive functioning worsened. COMT Met/Met patients carrying the DRD3 Ser/Ser genotype performed poorest (16.184 vs. 27.388-31.824). Scores of carriers of this COMT/DRD3 combination significantly differed from all DRD3 Gly/Gly combinations (p < 0.05), from COMT Val/Met DRD3 Ser/Gly (p = 0.02), and from COMT Val/Val DRD3 Ser/Ser (p = 0.01) in patients. It also differed significantly from all control scores (p < 0.001).Conclusion:Combined genetic polymorphisms related to dopamine neurotransmission might influence executive function in schizophrenia. Looking at the effects of multiple genes on a single disease trait (epistasis) provides a comprehensive and more reliable way to determine genetic effects on endophenotypes.
Descritores: Catecol O-Metiltransferase/genética
Cognição/fisiologia
Epistasia Genética
Polimorfismo de Nucleotídeo Único
/genética
RECEPTORS, DOPAMINE DABATTOIRS/genética
Esquizofrenia/genética
-Análise de Variância
Estudos de Casos e Controles
Escolaridade
Função Executiva/fisiologia
Frequência do Gene
Estudos de Associação Genética
Testes Neuropsicológicos
Reação em Cadeia da Polimerase em Tempo Real
Esquizofrenia/fisiopatologia
Limites: Adulto
Feminino
Seres Humanos
Masculino
Meia-Idade
Adulto Jovem
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Id: lil-669106
Autor: Valencia, Ana Victoria; Páez, Ana Lucía; Sampedro, María Elena; Ávila, Clara; Cardona, Julio César; Mesa, Catalina; Galvis, Lina; Carrizosa, Jaime; Camargo, Mauricio; Ruiz, Andrés; Cornejo, William; Bedoya, Gabriel.
Título: Evidencia de asociación entre el gen SLC6A4 y efectos epistáticos con variantes en HTR2A en la etiología del autismo en la población antioqueña / Evidence for association and epistasis between the genetic markers SLC6A4 and HTR2A in autism etiology
Fonte: Biomédica (Bogotá);32(4):585-601, oct.-dic. 2012. ilus, tab.
Idioma: es.
Resumo: Introducción. El espectro autista constituye un grupo de trastornos graves del neurodesarrollo, con un fuerte componente genético. Se ha sugerido un papel importante del sistema serotoninérgico en el desarrollo de este grupo de trastornos, con base en los estudios de respuesta a medicamentos y la hiperserotoninemia, característica común en el autismo. Se han implicado múltiples moléculas en el metabolismo y la neurotransmisión de la serotonina; sin embargo, los resultados de los estudios han tenido poca congruencia entre diferentes poblaciones. Objetivos. Evaluar la relación entre el autismo y el polimorfismo de nucleótido simple (Single Nucleotide Polymorphism, SNP) en los genes SLC6A4, HTR2A e ITGB3, en una muestra de la población antioqueña. Materiales y métodos. Se genotipificaron 42 núcleos familiares con autismo para 10 variantes en los genes SLC6A4, ITGB3 y HTR2A. Se evaluó la asociación utilizando la prueba de desequilibrio en la transmisión. Se exploró el impacto de la interacción entre estos genes y el autismo, utilizando la reducción multidimensional. Resultados. Se encontró asociación de las variantes rs4583306 (OR=2,6, p=0,004) y rs2066713 (OR=2,2 p=0,03), en el gen SLC6A4, y asociación de combinaciones genotípicas entre los genes SLC6A4 y HTR2A y el riesgo de autismo (p=0,0001). Conclusiones. Se encontró asociación significativa con variantes en el gen transportador de serotonina con el autismo, al igual que interacción entre variantes en los genes HTR2A con SLC6A4. Estos resultados concuerdan con los de estudios previos en otras poblaciones y son pruebas a favor del papel del sistema serotoninérgico en la etiología del espectro autista.

Introduction. Autism spectrum disorders are severe neurodevelopmental disorders with a strong genetic component. The potential role of the serotoninergic system in the development of autistic disorder has been based on the observation of hyperserotoninemia in autistic subjects and the results of drug treatment studies. Multiple molecules involved in serotonin metabolism and neurotransmission have been studied; however, replication studies have been inconsistent. This may be partially related to the marked genetic heterogeneity of autism in different populations. Objectives. The relationship between autism and single nucleotide polymorphisms of SLC6A4, HTR2A and ITGB3 genes was evaluated in an urban population of northwestern Colombia. Materials and methods. In Antioquia, Colombia, 42 families with history of autism were screened for 10 SNPs in SLC6A4, HTR2A and ITGB3 genes and evaluated for associations with the transmission disequilibrium test. The interactions among these genes and autism was assessed with multidimensional reduction methods. Results. A significant main effect was seen among the SLC6A4 gene variants rs4583306 (OR=2.6, p=0.004) and rs2066713 (OR=2.2, p=0.03). No main effect of the ITGB3 or HTR2A variants was found, however, in the interaction effects, the SLC6A4 and HTR2A genes demonstrated significant evidence of association with autism (p<0.001). Conclusion. Significant association of markers were discovered within the SLC6A4 gene and the combination of SLC6A4 and HTR2A (S-A) genes to autism. These results were consistent with previous studies conducted in other populations and provide further evidence for the implication of the serotoninergic system in the etiology of autistic disorders.
Descritores: Transtornos Globais do Desenvolvimento Infantil/genética
Epistasia Genética
/genética
INTEGRIN BETAABATTOIRS/genética
Polimorfismo de Nucleotídeo Único
/genética
RECEPTOR, SEROTONIN, ABDOMEN-HTTEMEFOSA/genética
Proteínas da Membrana Plasmática de Transporte de Serotonina/genética
-Transtornos Globais do Desenvolvimento Infantil/epidemiologia
Colômbia/epidemiologia
Frequência do Gene
Estudos de Associação Genética
Genótipo
Desequilíbrio de Ligação
Avaliação de Sintomas
Serotonina/fisiologia
Limites: Criança
Pré-Escolar
Feminino
Seres Humanos
Masculino
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: CO332 - Facultad de Medicina


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Id: lil-616992
Autor: Lau, Cia-Hin; Muniandy, Sekaran.
Título: Lack of evidence for intermolecular epistatic interactions between adiponectin and resistin gene polymorphisms in Malaysian male subjects
Fonte: Genet. mol. biol;35(1):38-44, 2012. tab.
Idioma: en.
Resumo: Epistasis (gene-gene interaction) is a ubiquitous component of the genetic architecture of complex traits such as susceptibility to common human diseases. Given the strong negative correlation between circulating adiponectin and resistin levels, the potential intermolecular epistatic interactions between ADIPOQ (SNP+45T > G, SNP+276G > T, SNP+639T > C and SNP+1212A > G) and RETN (SNP-420C > G and SNP+299G > A) gene polymorphisms in the genetic risk underlying type 2 diabetes (T2DM) and metabolic syndrome (MS) were assessed. The potential mutual influence of the ADIPOQ and RETN genes on their adipokine levels was also examined. The rare homozygous genotype (risk alleles) of SNP-420C > G at the RETN locus tended to be co-inherited together with the common homozygous genotypes (protective alleles) of SNP+639T > C and SNP+1212A > G at the ADIPOQ locus. Despite the close structural relationship between the ADIPOQ and RETN genes, there was no evidence of an intermolecular epistatic interaction between these genes. There was also no reciprocal effect of the ADIPOQ and RETN genes on their adipokine levels, i.e., ADIPOQ did not affect resistin levels nor did RETN affect adiponectin levels. The possible influence of the ADIPOQ gene on RETN expression warrants further investigation.
Descritores: Adipocinas
Comunicação Celular
Epistasia Genética
Responsável: BR1.1 - BIREME


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Id: lil-605933
Autor: Martinez, Emanuel Ricardo Monteiro; Zawadzki, Claudio Henrique; Foresti, Fausto; Oliveira, Claudio.
Título: Cytogenetic analysis of five Hypostomus species (Siluriformes, Loricariidae)
Fonte: Genet. mol. biol;34(4):562-568, 2011. mapas, tab.
Idioma: en.
Resumo: In this work, we analyzed the karyotypes of five species. Hypostomus cf. heraldoi, from the Mogi-Guaçu River, had 2n = 72 chromosomes, with a nucleolar organizer region (NOR) in one chromosomal pair. Hypostomus regani, from the Mogi-Guaçu River had 2n = 72 chromosomes with NORs in two chromosomal pairs. Hypostomus sp., from the Mogi-Guaçu River basin, had 2n = 68 chromosomes, with NORs in two chromosomal pairs. Hypostomus aff. agna, from Cavalo Stream, had 2n = 74 chromosomes with NORs in two chromosomal pairs. Hypostomus cf. topavae, from Carrapato Stream, had 2n = 80 chromosomes, with NORs in two chromosomal pairs. Hypostomus species showed marked diversity in the karyotypic formula, which suggested the occurrence of several Robertsonian rearrangements and pericentric inversions during the evolutionary history of this genus. This hypothesis was supported by the occurrence of a large number of uniarmed chromosomes and multiple NORs in a terminal position in most species and may be a derived condition in the Loricariidae.
Descritores: Cromossomos
Epistasia Genética
Evolução Molecular
Peixes
Responsável: BR1.1 - BIREME


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Id: lil-599615
Autor: Bueno, R. S; Torres, R. A; Ferraz, J. B. S; Lopes, P. S; Eler, J. P; Silva, M. Almeida e; Euclydes, R. F; Mattos, E. C.
Título: Inclusão da epistasia em modelo de avaliação genética de bovinos de corte compostos / The effect of the inclusion of epistasis on the genetic evaluation model of beef cattle composite
Fonte: Arq. bras. med. vet. zootec;63(4):948-953, ago. 2011. tab.
Idioma: pt.
Resumo: Dados de bovinos compostos foram analisados para avaliar o efeito da epistasia nos modelos de avaliação genética. As características analisadas foram os pesos aos 205 (P205) e 390 dias (P390) e perímetro escrotal aos 390 dias (PE390). As análises foram realizadas pela metodologia de máxima verossimilhança considerando-se dois modelos: o modelo 1 incluiu como covariáveis os efeitos aditivos diretos e maternos, e os não aditivos das heterozigoses para os efeitos diretos e para o materno total, e o modelo 2 considerou também o efeito direto de epistasia. Para comparação dos modelos, foram utilizados o critério de informação de Akaike (AIC) e o critério de informação Bayesiano de Schwartz (BIC), e o teste de razão de verossimilhança. A inclusão da epistasia no modelo de avaliação genética pouco alterou as estimativas de componentes de (co)variâncias genéticas aditivas e, consequentemente, as herdabilidades. O teste de verossimilhança e o critério de Akaike sugeriram que o modelo 2, que inclui a epistasia, apresentou maior aderência aos dados para todas as características analisadas. O critério BIC indicou este modelo como o melhor apenas para P205. Para análise genética dessa população, o modelo que considerou o efeito de epistasia foi o mais adequado.

Composite bovine data was analyzed with the objective of evaluating the effect of the epistasis parameter in the models of genetic evaluation. The analyzed characteristics were weight at 205 (W205) and 390 days (P390), and scrotal circumference at 390 days (SC390). The analysis were done by the maximum likelihood method, considering two models: model 1, which included as covariates the direct and maternal additive effects, and non-additive of the heterozygosis for the direct and total maternal, and model 2, which also considered the direct epistasis direct. The Akaike Information Criteria (AIC) and the Bayesiano of Schwartz Information Criteria (BIC) were used for the comparison of the models and the test of ratio of likelihood. The inclusion of the epistasis effects on the model of the genetic evaluation did not alter much the estimation of the genetic additive (co)variances components and, consequently the heritability. However, it was significantly superior by the likelihood ratio test for the studied characteristics. Through the BIC, model 2 was more adequate only for W205. For the genetic analysis of that population the model that considers the epitasis is the more adequate.
Descritores: Bovinos/classificação
Epistasia Genética
Escroto/anatomia & histologia
Testículo/anatomia & histologia
-Vigor Híbrido
Funções Verossimilhança
Modelos Genéticos
Limites: Animais
Masculino
Responsável: BR68.1 - Biblioteca Virginie Buff D'Ápice


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Id: lil-576044
Autor: Lopes, J. S; Rorato, P. R. N; Weber, T; Araújo, R. O; Dornelles, M. A; Comin, J. G.
Título: Avaliação do desempenho na pós-desmama para uma população bovina multirracial Aberdeen Angus x Nelore utilizando-se diferentes modelos genéticos / Post weaning performance evaluation for a multibreed Aberdeen Angus x Nellore population using different genetic models
Fonte: Arq. bras. med. vet. zootec;62(6):1439-1447, dez. 2010. tab.
Idioma: pt.
Resumo: Com o objetivo de testar modelos genéticos alternativos ao aditivo-dominante em populações multirraciais, foram utilizadas informações do peso ao sobreano (PS) de 35.931 novilhos, filhos de 752 touros e 30.535 vacas das raças Aberdeen Angus (A) e Nelore (N) e de diversos grupos genéticos possíveis por meio do cruzamento entre elas. Foram testados cinco diferentes modelos (M) genéticos: o M1 continha o efeito genético fixo aditivo direto (AD), heterozigótico direto (HD), epistático direto (ED) e aditivo-conjunto direto (ACD); o M2, igual ao M1, menos o efeito ACD; o M3, igual ao M1, menos o efeito ED; o M4, igual ao M1, menos os efeitos ED e ACD; e o M5, igual ao M1, menos os efeitos HD, ED e ACD. Os modelos foram submetidos a três métodos de análise diferentes: método dos quadrados mínimos (MQM), regressão de cumeeira (RC) e máxima verossimilhança restrita (REML). O método de RC produziu estimativas de coeficientes com magnitudes e sinais explicados biologicamente. As estimativas dos efeitos, das (co)variâncias, dos parâmetros e dos valores genéticos diferiram entre os modelos, indicando a importância da correta escolha do modelo de análise, devendo-se ter conhecimento prévio do fenômeno estudado e sua interpretação biológica e sempre preceder à escolha de um modelo de análise genética multirracial o estudo da relação existente entre as variáveis independentes. Importantes efeitos adicionais ao efeito AD foram acrescentados pelas inclusões dos efeitos HD e ED aos modelos de análise. A notação matemática dos efeitos ACD, aplicada atualmente na literatura e testada neste estudo, não foi capaz de explicar a complementaridade entre raças como esperado, havendo problemas com casos de multicolinearidade entre os efeitos estudados.

In order to evaluate alternative genetic models to the additive dominant model, weights at yearling (PS) of 35,931 animals, sired by 752 bulls and 30,535 cows of Aberdeen Angus (A) and Nellore (N) breeds and the genetic groups from their crosses were used. Five different genetic models (M) were tested: M1, containing the direct additive fixed genetic effect (DA), heterozygote direct (HD), epystatic direct (ED), and direct joint additive direct (DJA); M2 was equal to M1, excluding DJA effect; M3 was equal to M1, excluding ED effect; M4 was equal M1, excluding ED and ACD effects, and M5 was equal to M1, excluding HD, ED, and DJA effects. The models were analyzed by different methods: Least Square Means Method (MQM), Ridge Regression Method (RC), and Restricted Maximum Likelihood Method (REML). Estimated coefficients by RC showed magnitude and sign which were biologically explained. The estimates of the covariances, parameters, and genetic values varied among the models, indicating the importance of the correct choice of the model for analysis, being necessary a previous knowledge of the studied phenomenon and its biological interpretation. Besides, it should always be considered the relationship between the independent variables before choosing a multibreed genetic analysis model. Important additional effects to the DA effect were considered by the inclusion of the HD and ED effects to the models for analysis. The DJA math notation, currently used in the literature and tested in the present study, was not able to explain the breed complementarity, due to the multi colinearity among the studied effects.
Descritores: Avaliação de Desempenho Profissional
Genética/tendências
-Epistasia Genética
Peso Corporal/fisiologia
Limites: Bovinos
Responsável: BR68.1 - Biblioteca Virginie Buff D'Ápice


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Id: lil-416323
Autor: Cravero, Vanina Pamela; Picardi, Liliana Amelia; Cointry, Enrique Luis.
Título: An approach for understanding the heredity of two quality traits (head color and tightness) in globe artichoke (Cynara scolymus L)
Fonte: Genet. mol. biol;28(3):431-434, July-Sept. 2005.
Idioma: en.
Resumo: The inheritance of head color and tightness in globe artichoke was studied utilizing crosses between inbreed lines and between clones and self-pollinated clones from different genetic origins. These genetic materials were sowed in a completely randomized design with 20 plants per plot and genotype. Globe artichoke heads were classified into three colors (purple-green, purple and green) and three head tightness types (compact, fairly compact and soft) and the segregating ratios for these traits tested in each offspring using the chi-square test. Crosses between green and purple inbreed lines produced only purple-green heads but F2 generation segregated at a purple-green:purple:green ratio of 9:3:4. The self-pollinated compact head clones produced a compact head:fairly compact head:soft head ratio of 12:3:1. The remaining crosses between lines and among clones and backcrosses verified these ratios. These results suggest that two loci with a simple recessive epistasis are involved in the inheritance of head color and that two loci with simple dominant epistasis are involved in the expression of the different head tightness types. The inheritance models proposed here could be helpful in predicting the appearance of artichoke heads if breeders need to obtain hybrid seeds for a desirable phenotype.
Descritores: Epistasia Genética
Plantas Medicinais/genética
-Células Clonais
Hereditariedade
Endogamia
Responsável: BR26.1 - Biblioteca Central


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Id: lil-399618
Autor: Viana, José Marcelo Soriano.
Título: Dominance, epistasis, heritabilities and expected genetic gains
Fonte: Genet. mol. biol;28(1):67-74, Jan.-Mar. 2005. tab.
Idioma: en.
Resumo: Although epistasis is common in gene systems that determine quantitative traits, it is usually not possible to estimate the epistatic components of genotypic variance because experiments in breeding programs include only one type of progeny. As the study of this phenomenon is complex, there is a lack of theoretical knowledge on the contribution of the epistatic variances when predicting gains from selection and on the bias in estimating genetic parameters when fitting the additive-dominant model. The objective of this paper is to discuss these aspects. Regarding a non-inbred population, the genetic value due to dominance and the epistatic components of the genotypic value are not indicators of the number of favorable genes present in an individual. Thus, the efficiency of a selection process should be based on the narrow-sense heritability, a function only of additive variance. If there is no epistasis, generally it is satisfactory to assess the selection efficiency and to predict gain based on the broad-sense heritability. Regardless of the selection unit or type of epistasis, the bias in the estimate of the additive variance when assuming the additive-dominant model is considerable. This implies overestimation of the heritabilities at half sib family mean, plant within family and plant levels, and underestimation if the selection units are full sib progenies. The predicted gains will have a bias proportional to that of the heritability.
Descritores: Epistasia Genética
Variação Genética
-Plantas
Triticum
Limites: Animais
Responsável: BR26.1 - Biblioteca Central


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Id: lil-391235
Autor: Viana, José Marcelo Soriano.
Título: Quantitative genetics theory for non-inbred populations in linkage disequilibrium
Fonte: Genet. mol. biol;27(4):594-601, Dec. 2004. ilus, tab.
Idioma: en.
Resumo: Although linkage disequilibrium, epistasis and inbreeding are common phenomena in genetic systems that control quantitative traits, theory development and analysis are very complex, especially when they are considered together. The objective of this study is to offer additional quantitative genetics theory to define and analyze, in relation to non-inbred cross pollinating populations, components of genotypic variance, heritabilities and predicted gains, assuming linkage disequilibrium and absence of epistasis. The genotypic variance and its components, additive and due to dominance genetic variances, are invariant over the generations only in regard to completely linked genes and to those in equilibrium. When the population is structured in half-sib families, the additive variance in the parents' generation and the genotypic variance in the population can be estimated. When the population is structured in full-sib families, none of the components of genotypic variance can be estimated. The narrow sense heritability level at plant level can be estimated from the parent-offspring or mid parent-offspring regression. When there is dominance, the narrow sense heritability estimate in the in F2 is biased due to linkage disequilibrium when estimated by the Warner method, but not when estimated by means of the plant F2-family F3 regression. The bias is proportional to the number of pairs of linked genes, without independent assortment, and to the degree of dominance, and tends to be positive when genes in the coupling phase predominate or negative and of higher value when genes in the repulsion phase predominate. Linkage disequilibrium is also cause of bias in estimates of the narrow sense heritabilities at full-sib family mean and at plant within half-sib and full-sib families levels. Generally, the magnitude of the bias is proportional to the number of pairs of genes in disequilibrium and to the frequency of recombining gametes.
Descritores: Variação Genética
Desequilíbrio de Ligação
Plantas
-Cruzamentos Genéticos
Epistasia Genética
Genótipo
Padrões de Herança
Responsável: BR26.1 - Biblioteca Central


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Id: lil-339737
Autor: Baptista, Francielle; Castro-Prado, Marialba Avezum Alves de.
Título: uvsZ1 mutation shows epistatic relations with uvsD153 and uvsJ1 mutations without any involvement with checkpoint control in Aspergillus nidulans
Fonte: Biol. Res;35(3/4):441-446, 2002. ilus, tab, graf.
Idioma: en.
Resumo: The participation of the recently described uvsZ1 mutation in checkpoint control and the identification of epistatic relations between uvsZ1 mutation and uvsD153 and uvsJ1 mutations are provided. The effect of mutation uvsZ1 in mitotic exchanges into paba-bi (chromosome I) and cho-nic (chromosome VII) genetic intervals has also been evaluated. The mutation uvsZ1 was epistatic with regard to uvsD153 and uvsJ1 mutations, with no involvement with checkpoint control. In contrast to mutations in UvsB and UvsF groups, the uvsZ1 mutation failed to cause any changes in the frequencies of mitotic crossing-over. The distinct phenotypic traits given by mutation uvsZ1 suggest the presence of complex interactions among the different DNA repair pathways. Interaction may be an additional cell strategy of DNA damage response
Descritores: Aspergillus nidulans
Epistasia Genética
Mutação
-Dano ao DNA
Reparo do DNA
DNA Fúngico
Genes Fúngicos
Tolerância a Radiação
Raios Ultravioleta
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME



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