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Published: 11 March 2023

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1

Geike, Juliane [Verfasser]. "Funktionelle Analyse von MLO Genen im Rosengenom / Juliane Geike." Hannover : Gottfried Wilhelm Leibniz Universität Hannover, 2018. http://d-nb.info/1172414211/34.

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2

Cóser, Virgínia Maria. "Caracterização dos genes envolvidos nos rearranjos do gene MLL em leucemia aguda de novo de lactentes." reponame:Repositório Institucional da UFPR, 2013. http://hdl.handle.net/1884/32101.

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Resumo: A leucemia de lactentes difere das demais por apresentar diversas características epidemiológicas e biológicas particulares, com destaque à alta freqüência do envolvimento do gene MLL que é rearranjado com uma variedade de outros genes (cerca de 50 já descritos), gerando produtos de fusão comprovadamente leucemogênicos, apesar de o mecanismo exato ser ainda desconhecido. A identificação do envolvimento do MLL é por si só de grande importância prognóstica e terapêutica, porém a identificação das seqüências parceiras assume importância desde que traz informações sobre os mecanismos básicos de leucemogênese, de possíveis alvos para terapias e pesquisa de doença residual mínima. Com o objetivo de estimar a freqüência e caracterizar os diferentes rearranjos do gene MLL em uma amostra brasileira de lactentes portadores de leucemia aguda de novo, foram analisados 112 pacientes provenientes do "Grupo Brasileiro de Estudos Colaborativos sobre Leucemia Aguda em Lactentes". Vários métodos laboratoriais foram utilizados de forma complementar (citogenética convencional e molecular, RT-PCR, Southern Blotting, LDI-PCR e seqüenciamento), de acordo com um fluxograma previamente estabelecido. Vinte pacientes (17,85%) eram portadores de alterações recorrentes e bem caracterizadas nas leucemias e foram excluídos da análise do gene MLL. Dentre os 92 restantes, 56 pacientes eram portadores de rearranjos no gene MLL (61%) e 36 não (39%). A alteração mais freqüentemente observada foi o rearranjo MLL/AFF1, observado em nove dentre os 56 pacientes positivos para o rearranjo considerando os diversos métodos (16,1%). O estudo corrobora a importância da utilização de diversas metodologias complementares na identificação do rearranjo do gene MLL e de seus parceiros, destacando a alta sensibilidade do método de hibridização in situ por fluorescência (FISH), que foi capaz de identificar 49 pacientes positivos em 82 (59,8%) em que a hibridização foi possível incluindo 38 casos que, sem esta análise, seriam dados como normais. Considerando que a limitação deste método é a não identificação do gene parceiro, a análise por LDI mostrou-se extremamente eficaz na complementação, identificando 9 de 13 casos analisados (69,2%), sendo que um destes rearranjado ao gene Nebulette, caracterizando um novo gene de fusão.
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3

Dorrance, Adrienne M. "The role of the partial tandem duplication of the MLL (MLL PTD) in leukemogenesis." Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1203712889.

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4

Lima, Diego Silva. "Avaliação dos genes MLL, RB e TP53 em pacientes com síndrome mielodisplásica." reponame:Repositório Institucional da UFC, 2011. http://www.repositorio.ufc.br/handle/riufc/6887.

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LIMA, Diego Silva. Avaliação dos genes MLL, RB e TP53 em pacientes com síndrome mielodisplásica. 2011. 95 f. Dissertação (Mestrado em Patologia) - Universidade Federal do Ceará. Faculdade de Medicina, Fortaleza, 2011.
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Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal disorders affecting the hematopoietic pluripotent cell, characterized by low cell counts in peripheral blood, dysplasia in one or more cell lines, inefficient hematopoiesis and increased risk of progression to acute myeloid leukemia. Although the disease can affect patients of other age groups, they are more frequent in those with advanced age with an average 60 to 75 years at diagnosis. Chromosomal abnormalities are observed in approximately 50% of all cases of MDS and are related with clinical and morphological findings. The aim of this study was to determine, through the technique of FISH (fluorescence in situ hybridization), the frequency of changes involving the MLL, RB, and TP53 genes in patients with MDS and associate these changes with cytogenetic findings. The cases included in the study were selected in the ambulatory of SMD from University Hospital Walter Cantídio. Thirty three patients were selected, 17 had aged over 60 years. 52% of patients were classified, according to WHO criteria, as refractory cytopenia with dysplasia in multiple lineages (RCDM) and 61% stratified, according to IPSS, as intermediate risk 1 (INT-1). 78% of patients had abnormalities detected by cytogenetics, among them 31% had complex karyotypes (more than 3 changes per metaphase). 18% of patients had changes at least in one of the three genes valued in this study by FISH. Three patients showed alterations of TP53 gene, being detected in two patients (records 31 and 6) the deletion of a single allele or both alleles of the gene, respectively, and in the third (record 2), we detected amplification of TP53 gene, all this changes were not detected by classical cytogenetics, because it is a less sensitive technique. 6% of patients (records 7 and 22) had rearrangement of MLL gene. In the first case, FISH discarded the gene deletion alleged by cytogenetic, proving that it was present in the genome of the patient, but in a rearranged form, and in the second case cytogenetics failed to demonstrate rearrangement of the gene. For the RB gene, FISH identified only one patient (3%) with deletion of one allele of the gene, and this change was also not detected by classical cytogenetics. During evaluating the TP53 gene, FISH allowed identification of two patients (records 5 and 10) presenting at least six extra copies of chromosome 17, probably representing a small hyperdiploid clone partially detected in the first patient and not detected in the second . In the six patients who showed abnormalities of the genes analyzed, FISH has provided information that added, changed or confirmed the result previously given by classical cytogenetics, which are a major application of this technique due to its high sensitivity compared to the traditional method.
As síndromes mielodisplásicas (SMD) representam um grupo heterogêneo de doenças clonais que acometem a célula precursora hematopoética pluripotente, caracterizando-se por baixa contagem de células no sangue periférico, displasia em uma ou mais linhagens celulares, hematopoese ineficiente, além do risco aumentado de progressão para leucemia mielóide aguda. Embora a doença possa acometer pacientes de outras faixas etárias, é mais frequente naqueles com idade avançada, com média ao diagnóstico de 60 a 75 anos. As anormalidades cromossômicas são observadas em aproximadamente 50% de todos os casos de SMD, estando, em alguns casos, relacionadas com achados clínicos e morfológicos. O objetivo deste trabalho foi determinar, através da técnica de FISH (hibridização in situ por fluorescência), a frequência de alterações envolvendo os genes MLL, RB e TP53 em pacientes com SMD e associar estas alterações com os achados citogenéticos. Os casos inseridos no estudo foram oriundos do ambulatório de SMD do Hospital Universitário Walter Cantídio. Dos 33 pacientes selecionados, 17 pertenciam ao grupo com idade acima de 60 anos. 52% dos pacientes foram classificados, segundo a OMS, como citopenia refratária com displasia em múltiplas linhagens (CRDM) e 61% estratificados, segundo o IPSS, como de risco intermediário 1 (INT-1). Um total de 78% dos pacientes apresentaram alterações citogenéticas, dentre eles 31% possuíam cariótipos complexos (mais de 3 alterações por metáfase). A técnica de FISH permitiu identificar em 18% dos pacientes alterações envolvendo um dos três genes avaliados. Três pacientes apresentaram alteração do gene TP53, sendo detectada em dois deles (registros 31 e 6) a deleção de um único alelo ou de ambos os alelos do gene, respectivamente, e no terceiro (registro 2), detectou-se a amplificação do gene TP53, sendo estas alterações não visualizadas através da citogenética clássica, por se tratar de um técnica menos sensível. Detectou-se em 6% dos pacientes (registros 7 e 22) rearranjo do gene MLL, no primeiro a FISH descartou a suposta deleção do gene alegada pela citogenética, provando que o mesmo estava presente no genoma do paciente, porém de forma rearranjada e no segundo a citogenética não conseguiu demonstrar o rearranjo do gene. Quanto ao gene RB, a FISH permitiu identificar apenas um paciente (3%) com deleção de um dos alelos do gene, sendo esta alteração também não detectada pela citogenética clássica. A FISH possibilitou identificar, durante a avaliação do gene TP53, dois pacientes (registros 5 e 10) apresentando pelo menos 6 cópias extras do cromossomo 17, devendo essa alteração se tratar de um pequeno clone hiperdiplóide detectado parcialmente no primeiro paciente e não detectado no segundo. Nos seis pacientes que apresentaram alteração dos genes avaliados, a FISH proveu informações que adicionaram, confirmaram ou alteraram o resultado previamente emitido pela citogenética clássica, sendo estas uma das principais aplicações desta técnica devido sua alta sensibilidade quando comparada ao método clássico.
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5

Makepeace, Joanne Claire. "The effect of the mlo mildew resistance gene on spotting diseases of barley." Thesis, University of East Anglia, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.437638.

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6

Bussiere, Marianne. "Characterising the MLL complex : epigenetic regulation of Hoxa genes." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/707/.

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The Mixed-Lineage Leukaemia (MLL1) protein is a key developmental factor that acts to regulate genes via its histone methyl-transferase activity. This study aimed to examine how MLL1 and its associated complex contribute to gene regulation in a functionally relevant cell background. To assess dynamic processes involved, we developed a haematopoietic Stem Cell (hSC) -based system, in which Hoxa genes are down-regulated in a differentiation- induced manner. I characterised the histone modification distribution on two MLL-target genes showing the largest changes upon differentiation: Hoxa4 and Hoxa5. When active, these genes are associated with a peak of “activating” histone marks (H3K4me3, H3K9ac, H4K16ac) over the transcriptional start site, which are lost when the gene is repressed. This correlated with the recruitment of enzymes that deposit these marks, including components of the MLL complex (MLLC, MLLN and menin) as well as HATs that may be associated with the complex (CBP and MOF). Interestingly, the location of these proteins does not always correlate with the marks they deposit. We show that the dual mark H3K9acS10p is present on active Hoxa4 and Hoxa5 genes, and correlates with the presence of the histone kinase Msk1. We speculate that Msk1 contributes to regulating MLL1 HMT’ase activity on these genes.
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7

Wong, Piu. "Meis1 and micrornas as collaborating genes in MLL leukemia /." May be available electronically:, 2008. http://proquest.umi.com/login?COPT=REJTPTU1MTUmSU5UPTAmVkVSPTI=&clientId=12498.

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8

Cleavinger, Peter Jay. "Role of the long terminal repeat in transcriptional regulation of rous sarcoma virus gene expression." free to MU campus, to others for purchase, 1996. http://wwwlib.umi.com/cr/mo/fullcit?p9841207.

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9

Nigavekar, Shraddha S. "Regulation of GLC7 encoded PP1 and analysis of synthetic lethal interactions with ade3 and leu2 in saccharomyces cerevisiae." free to MU campus, to others for purchase, 2001. http://wwwlib.umi.com/cr/mo/fullcit?p3013007.

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10

Aggelis, Alexandros. "Gene expression in ripening melon (Cucumis melo L.)." Thesis, University of Nottingham, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.319646.

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11

Lima, Diego Silva. "AvaliaÃÃo dos genes MLL, RB e TP53 em pacientes com sÃndrome mielodisplÃsica." Universidade Federal do CearÃ, 2011. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=6770.

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As sÃndromes mielodisplÃsicas (SMD) representam um grupo heterogÃneo de doenÃas clonais que acometem a cÃlula precursora hematopoÃtica pluripotente, caracterizando-se por baixa contagem de cÃlulas no sangue perifÃrico, displasia em uma ou mais linhagens celulares, hematopoese ineficiente, alÃm do risco aumentado de progressÃo para leucemia mielÃide aguda. Embora a doenÃa possa acometer pacientes de outras faixas etÃrias, Ã mais frequente naqueles com idade avanÃada, com mÃdia ao diagnÃstico de 60 a 75 anos. As anormalidades cromossÃmicas sÃo observadas em aproximadamente 50% de todos os casos de SMD, estando, em alguns casos, relacionadas com achados clÃnicos e morfolÃgicos. O objetivo deste trabalho foi determinar, atravÃs da tÃcnica de FISH (hibridizaÃÃo in situ por fluorescÃncia), a frequÃncia de alteraÃÃes envolvendo os genes MLL, RB e TP53 em pacientes com SMD e associar estas alteraÃÃes com os achados citogenÃticos. Os casos inseridos no estudo foram oriundos do ambulatÃrio de SMD do Hospital UniversitÃrio Walter CantÃdio. Dos 33 pacientes selecionados, 17 pertenciam ao grupo com idade acima de 60 anos. 52% dos pacientes foram classificados, segundo a OMS, como citopenia refratÃria com displasia em mÃltiplas linhagens (CRDM) e 61% estratificados, segundo o IPSS, como de risco intermediÃrio 1 (INT-1). Um total de 78% dos pacientes apresentaram alteraÃÃes citogenÃticas, dentre eles 31% possuÃam cariÃtipos complexos (mais de 3 alteraÃÃes por metÃfase). A tÃcnica de FISH permitiu identificar em 18% dos pacientes alteraÃÃes envolvendo um dos trÃs genes avaliados. TrÃs pacientes apresentaram alteraÃÃo do gene TP53, sendo detectada em dois deles (registros 31 e 6) a deleÃÃo de um Ãnico alelo ou de ambos os alelos do gene, respectivamente, e no terceiro (registro 2), detectou-se a amplificaÃÃo do gene TP53, sendo estas alteraÃÃes nÃo visualizadas atravÃs da citogenÃtica clÃssica, por se tratar de um tÃcnica menos sensÃvel. Detectou-se em 6% dos pacientes (registros 7 e 22) rearranjo do gene MLL, no primeiro a FISH descartou a suposta deleÃÃo do gene alegada pela citogenÃtica, provando que o mesmo estava presente no genoma do paciente, porÃm de forma rearranjada e no segundo a citogenÃtica nÃo conseguiu demonstrar o rearranjo do gene. Quanto ao gene RB, a FISH permitiu identificar apenas um paciente (3%) com deleÃÃo de um dos alelos do gene, sendo esta alteraÃÃo tambÃm nÃo detectada pela citogenÃtica clÃssica. A FISH possibilitou identificar, durante a avaliaÃÃo do gene TP53, dois pacientes (registros 5 e 10) apresentando pelo menos 6 cÃpias extras do cromossomo 17, devendo essa alteraÃÃo se tratar de um pequeno clone hiperdiplÃide detectado parcialmente no primeiro paciente e nÃo detectado no segundo. Nos seis pacientes que apresentaram alteraÃÃo dos genes avaliados, a FISH proveu informaÃÃes que adicionaram, confirmaram ou alteraram o resultado previamente emitido pela citogenÃtica clÃssica, sendo estas uma das principais aplicaÃÃes desta tÃcnica devido sua alta sensibilidade quando comparada ao mÃtodo clÃssico.
Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal disorders affecting the hematopoietic pluripotent cell, characterized by low cell counts in peripheral blood, dysplasia in one or more cell lines, inefficient hematopoiesis and increased risk of progression to acute myeloid leukemia. Although the disease can affect patients of other age groups, they are more frequent in those with advanced age with an average 60 to 75 years at diagnosis. Chromosomal abnormalities are observed in approximately 50% of all cases of MDS and are related with clinical and morphological findings. The aim of this study was to determine, through the technique of FISH (fluorescence in situ hybridization), the frequency of changes involving the MLL, RB, and TP53 genes in patients with MDS and associate these changes with cytogenetic findings. The cases included in the study were selected in the ambulatory of SMD from University Hospital Walter CantÃdio. Thirty three patients were selected, 17 had aged over 60 years. 52% of patients were classified, according to WHO criteria, as refractory cytopenia with dysplasia in multiple lineages (RCDM) and 61% stratified, according to IPSS, as intermediate risk 1 (INT-1). 78% of patients had abnormalities detected by cytogenetics, among them 31% had complex karyotypes (more than 3 changes per metaphase). 18% of patients had changes at least in one of the three genes valued in this study by FISH. Three patients showed alterations of TP53 gene, being detected in two patients (records 31 and 6) the deletion of a single allele or both alleles of the gene, respectively, and in the third (record 2), we detected amplification of TP53 gene, all this changes were not detected by classical cytogenetics, because it is a less sensitive technique. 6% of patients (records 7 and 22) had rearrangement of MLL gene. In the first case, FISH discarded the gene deletion alleged by cytogenetic, proving that it was present in the genome of the patient, but in a rearranged form, and in the second case cytogenetics failed to demonstrate rearrangement of the gene. For the RB gene, FISH identified only one patient (3%) with deletion of one allele of the gene, and this change was also not detected by classical cytogenetics. During evaluating the TP53 gene, FISH allowed identification of two patients (records 5 and 10) presenting at least six extra copies of chromosome 17, probably representing a small hyperdiploid clone partially detected in the first patient and not detected in the second . In the six patients who showed abnormalities of the genes analyzed, FISH has provided information that added, changed or confirmed the result previously given by classical cytogenetics, which are a major application of this technique due to its high sensitivity compared to the traditional method.
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12

Fleischmann, Katrin Kristina. "Identification of MLL-A9 related target genes and microRNAs involved in leukemogenesis." Diss., Ludwig-Maximilians-Universität München, 2012. http://nbn-resolving.de/urn:nbn:de:bvb:19-161310.

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13

Chen, Di. "Regulatory pathways controlling larval development in caenorhabditis elegans." Free to MU Campus, others may purchase, 2004. http://wwwlib.umi.com/cr/mo/fullcit?p3144405.

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14

Silva-Barreto, Fatima Aparecida da. "Identificação de marcador molecular ligado ao gene Pm-1 que confere resistência a raça 1 de oídio (Podosphaera xanthii) em melão (Cucumis melo L.)." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/11/11135/tde-08082007-171137/.

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A cultura do meloeiro é de grande importância econômica no Brasil, sendo a região Nordeste a principal produtora e exportadora do fruto. A baixa resistência aos principais patógenos é um dos fatores limitantes para a competitividade brasileira da cultura no mercado internacional. Uma das doenças mais importantes é o oídio, causado por Podosphaera xanthii. Geralmente, o controle de P. xanthii é obtido com o uso de fungicidas. Porém, é necessário empregar medidas mais econômicas e que não agridam o ambiente, como a utilização de cultivares resistentes. O objetivo deste trabalho foi identificar marcadores moleculares de vários tipos ligados ao gene Pm-1 de resistência à raça 1 de P. xanthii com o intuito de auxiliar programas de melhoramento genético. Para tanto foram utilizadas duas linhagens quase-isogênicas (LQI) de melão AF426pm1 (P1) e AF426Pm1 (P2), ambas pertencentes à variedade inodorus, que são contrastantes para ausência e presença, respectivamente, do gene Pm-1. Para a análise de co-segregação entre gene e marcadores candidatos, foi utilizada uma população de retrocruzamento RC1F1, fenotipada para resistência a raça 1 de oídio, obtida a partir do cruzamento entre linhagens. As técnicas de LM-PCR e AFLP resultaram em marcadores polimórficos, porém somente os encontrados com a técnica de AFLP puderam ser utilizados como marcadores no teste de co-segregação. Foram encontrados dois marcadores AFLP. No entanto, somente um, denominado HF155 mostrou-se ligado a uma distância de 4,9 cM do gene Pm-1. Devido à proximidade deste marcador ao gene este pode ser utilizado em programas de seleção assistida por marcadores, visando o melhoramento de linhagens com resistência ao P. xanthii.
Melon crop is of great economical importance in Brazil being the Northeast region the main producer and exporter of the fruit. The low levels of resistance to pathogens is one of the restricting factors for the Brazilian competitiveness worldwide. One of the most important diseases is powdery mildew caused by Podosphaera xanthii. Generally, the control of P. xanthii is achieved with the use of fungicides. However it is necessary to use less expensive control methods with a minimum environmental impact such as resistant cultivars. The objective of this work was to identify molecular markers linked to the Pm-1 gene which confers resistance to race 1 of P. xanthii with the purpose of assisting boding program. Two near isogenic lines (LQIs) of melon Agro AF426pm1 (P1) and AF426Pm1 (P2), both belonging to the inodorus variety, which are respectivally contrasting for abscence and presence of Pm-1 gene were analyzed. For the cosegregation analyses between gene and candidate markers, it was used the BC1F1 population was used screened for resistance to powdery mildew and obtained from a cross between the LQIs. The LM-PCR and AFLP techniques were efficient in the polymorphisms detection, however only those ones which were found using AFLP technique could be used as markers in the co-segregation test. It was found two markers with this technique but just the HF155 is located 4.9 cM of the Pm-1 gene. Due the proximity of the HF155 marker to the Pm-1 gene this one can be used in markerassisted selection aiming to develop melon cultivars resistant to P. xanthii.
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15

Ng, Ming-him. "Ras signalling pathway and MLL-rearranged leukaemias." View the Table of Contents & Abstract, 2006. http://sunzi.lib.hku.hk/hkuto/record/B3643419X.

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16

Ng, Ming-him, and 吳明謙. "Ras signalling pathway and MLL-rearranged leukaemias." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B37238656.

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17

Wassano, Débora Targino. "Identificação de marcadores ligados a genes de resistência à multiplicação de Zucchini yellow mosaic virus (ZYMV) em meloeiro." Universidade de São Paulo, 2014. http://www.teses.usp.br/teses/disponiveis/11/11137/tde-20032014-170310/.

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Viroses causam grandes danos às cucurbitáceas, pois além da severidade dos sintomas, não existem métodos curativos de controle. Dentre os vírus que infectam o meloeiro, o ZYMV é um dos mais severos e frequentes. PI414723 é a única fonte de resistência a este patógeno, sendo resistente ao seu patótipo 0. A resistência é conferida por um único gene dominante, Zym-1, mas há relatos sobre a existência de outros dois (Zym-2 e Zym-3). Até o momento, apenas Zym-1 foi localizado em um mapa de ligação, ligado ao marcador microssatélite CMAG36. Entretanto, há evidências que Zym-2 esteja ligado ao marcador CMCT134b. O objetivo do presente trabalho foi identificar marcadores ligados a Zym-2 a partir de análises de ligação entre locos de microssatélites e resistência ao vírus, realizadas em populações F2 oriundas de PI414723 x \'Védrantais\'. O inóculo foi isolado de um campo comercial e caracterizado quanto à sua agressividade, ao patótipo e à transmissibilidade por afídeos. As plantas foram inoculadas de modo mecânico e a resistência avaliada por quantificação do título viral por PTA-ELISA. A distribuição dos valores de título viral não foi normal e apresentou tendência para baixos títulos, indicando a presença de pelo menos um gene dominante de grande efeito. A ligação de Zym-1 a CMAG36 foi confirmada por meio de regressão linear simples. Plantas homozigóticas para alelos marcadores do genitor \'Védrantais\' neste loco foram genotipadas com marcadores microssatélites ligados ao marcador CMCT134b e a ligação destes com Zym-2 foi testada através de regressão linear simples. As análises indicaram associação significativa entre títulos virais e genótipos em CMBR55 e CMGA172. Regiões dos grupos de ligação II e X foram construídos com cinco marcadores cada para localizar os genes Zym-1 e Zym-2 através do mapeamento por múltiplos intervalos (MIM). A ligação entre Zym-1 e CMAG36 foi novamente confirmada a uma distância estimada de 3,4 cM (LOD = 33,32), enquanto Zym-2 mostrou-se ligado a CMBR55, a uma distância estimada em 3,9 cM (LOD = 17,45). Foi constatada epistasia entre Zym-1 e Zym-2 (LOD = 12,73) de modo que o fenótipo de plantas homozigóticas para o alelo marcador de \'Védrantais\' no loco CMAG36 é dependente de seus genótipos em CMBR55. Uma segunda população F2 derivada do mesmo cruzamento foi fenotipada para resistência a ZYMV e genotipada com os mesmos marcadores para validar os resultados. A ligação de Zym-1 a CMAG36 foi novamente confirmada, mas o mesmo não ocorreu com Zym-2. Tal resultado provavelmente decorreu do fato de Zym-2 ser de efeito menor e, portanto, mais difícil de ser detectado frente às variações experimentais. O uso de poucos marcadores também pode ter influenciado no poder de detecção dos testes, já que o número de marcadores influencia o poder de detecção de genes quantitativos. Além de fornecer evidências adicionais da existência de um segundo gene de resistência a ZYMV em PI414723, o presente trabalho também apresentou evidências de interação epistática entre eles. Não obstante, conclui-se que variedades resistentes oriundas de PI414623 podem ser obtidas pela seleção assistida unicamente pelo marcador CMAG36.
Viruses cause major damage to cucurbits due to the severity of the symptoms and because there are no curative methods of control. Among the viruses that infect muskmelon, ZYMV is one of the most severe and frequent. PI414723 is the only source of resistance to this pathogen, being resistant to the pathotype 0. Resistance is conferred by a single dominant gene, Zym-1, but there are reports on the existence of at least two others (Zym-2 and Zym-3). To date, only Zym-1 was located on a linkage map but there is evidence that Zym-2 is linked to the microsatellite marker CMCT134b. The objective of this study was to identify markers linked to Zym-2 from linkage analysis between microsatellite loci and resistance to the virus in F2 populations derived from the cross PI414723 x \' Védrantais \'. The inoculum was isolated from a commercial field and characterized as to its aggressiveness, pathotype and transmissibility by aphids. Plants were inoculated mechanically and resistance was evaluated by measuring the viral titer by PTA- ELISA. The distribution of viral titers was not normal and showed tendency for low values, indicating the presence of at least one dominant gene of large effect. The linkage of Zym-1 to CMAG36 was confirmed by linear regression. Plants homozygous for the \'Vedrantais\' marker allele on this locus were genotyped with microsatellite markers linked to CMCT134b and the linkage of these with Zym-2 were tested by simple linear regression. The analyses indicated a significant association between viral titers and genotypes at the CMBR55 and CMGA172 marker loci. Regions of linkage groups II and X were constructed with five markers each in order to locate Zym-1 and Zym-2 by the Multiple Intervals Mapping approach (MIM). Linkage between Zym-1 and CMAG36 was confirmed at an estimated distance of 3.4 cM (LOD = 33.32 ), as expected, while Zym-2 was found linked to CMBR55 at an estimated distance of 3.9 cM (LOD = 17.45). Epistasis between Zym-1 and Zym-2 was found (LOD=12.73), indicating that the phenotype of plants homozygous for \'Vedrantais\' marker allele in CMAG36 depended on their genotype in CMBR55. A second F2 population derived from the same cross was phenotyped for resistance to ZYMV and genotyped with the same markers in order to validate the results. The linkage of Zym-1 to CMAG36 was validated, but the same did not occur with Zym-2. This results probably from the fact that Zym-2 presented minor phenotypic effects which are harder to detect due to environmental variations. In addition, the use of few markers probably contributed to this result as well, since the number of markers influences the power to detect quantitative loci. Besides providing further evidences of the existence of a second resistance gene in PI414723, this study also detected epistatic effects between them. Notwithstanding, it is concluded that resistant cultivars can be developed from PI414723 solely based on the selection assisted with CMAG36.
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18

Yap, Wee Ching Melvyn. "Analysis of retroviral production in murine leukaemia virus." Thesis, University of Oxford, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325497.

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19

Morris, Erin Rebecca. "FHA domain genes of Arabidopsis /." free to MU campus, to others for purchase, 2004. http://wwwlib.umi.com/cr/mo/fullcit?p3144443.

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20

Guimarães, Larissa Oliveira. "Caracterização de subpopulações de Leucemia Mielóide Aguda portadora do rearranjo MLL quanto à resposta diferencial ao tratamento em longo prazo com Citarabina." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-07012016-115206/.

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A natureza heterogênea da Leucemia Mielóide Aguda (LMA) tornou-se um desafio para o sucesso da quimioterapia convencional com o agente Citarabina (Ara-C), especialmente em leucemias com prognóstico desfavorável, como aquelas portadoras do rearranjo MLL. Visto que as células de LMA-MLL são consideradas sensíveis ao Ara-C quando comparadas às leucemias que não apresentam o rearranjo, mas a recaída à doença é frequente, a presente tese propôs estudar a relação entre características biológicas relacionadas às bases da resistêmcia ao Ara-C em LMA-MLL. A abordagem proposta foi a seleção de subpopulações de linhagens celulares portadoras do rearranjo MLL submetidas ao tratamento em longo prazo com Ara-C, comparando-as com as linhagens não expostas à droga. As células foram caracterizadas quanto: 1) ao potencial proliferativo na presença ou ausência de Ara-C; 2) a distribuição das células no ciclo celular; 3) a distribuição de marcadores clássicos de superfície de células-tronco hematopoiéticas, CD34 e CD38; e 4) o perfil de expressão global dos RNAs transcritos. O tratamento em longo prazo selecionou células mais resistentes ao Ara-C que as células parentais. Além disso, quanto ao ciclo celular, as células selecionadas com Ara-C apresentaram apoptose reduzida (fase sub-G1), acúmulo na fase de síntese (fase S) e aumento da capacidade proliferativa após reexposição à droga (fase G2-M). Quanto à análise de marcadores de células-tronco hematopoiéticas, observou-se que após o tratamento em longo com Ara-C, uma das linhagens celulares apresentou distribuição bimodal do marcador CD38. Quando separadas por sorting em citometria de fluxo, observou-se que as subpopulações com níveis distintos de expressão de CD38, denominadas MV-4-11 CD38High e MV-4-11 CD38Low apresentaram resposta distinta ao tratamento com Ara-C. Quando avaliadas quanto ao perfil global de expressão gênica, constatou-se que MV-4-11 CD38High eram mais semelhantes às células parentais, e que MV-4-11 CD38Low formavam um grupo isolado, distinto das outras duas populações celulares. A análise de ontologia gênica (GO) evidenciou que entre as categorias mais representativas de processos biológicos estavam atividades associadas à capacidade proliferativa, ao desenvolvimento e a resposta a estímulos. As análises de agrupamentos hierárquicos mostraram que: 1) o cluster de genes do desenvolvimento HOXA estava mais expresso nas células MV-4-11 CD38Low do que em MV-4-11 CD38High, que apresentaram expressão mais elevada do cluster HOXB; 2) o gene HOX mais diferencialmente expresso foi HOXA13, associado na literatura com prognóstico desfavorável em outros tipos de câncer; 3) dos genes associados a resposta a estímulos, o único relacionado à via de metabolização do Ara-C diferencialmente expresso entre as linhagens foi NME1; 4) aqueles que participam das vias de reparo de pareamento incorreto, reparo por excisão de bases e por excisão de nucleotídeos encontraram-se mais expressos nas células MV-4-11 CD38High que em MV-4-11 CD38Low. Além disso, diversas quinases dependentes de ciclinas (CDKs) também estiveram diferencialmente expressas entre MV-4-11 CD38High e MV-4-11 CD38Low. Sugere-se por fim, que o modelo in vitro proposto neste estudo para simular a situação de resistência ao Ara-C em subpopulações de LMA-MLL, demonstrou que os mecanismos de resposta à Citarabina nesta doença, vão além de alterações na detoxificação e metabolização da droga, e parecem mais associados a vantagens proliferativas e do desenvolvimento das células leucêmicas. Estas vias devem ser exploradas como alvos potenciais na terapia combinada ao Ara-C.
The heterogeneity of Acute Myeloid Leukemia (AML) became a challenge for the success of the conventional chemotherapy agent Cytarabine (Ara-C), especially in leukemias with poor prognosis, as those harboring MLL rearrangement. Since AML-MLL cells are considered sensitive to Ara-C when compared with leukemias that do not carry the rearrangement, but relapse is frequent, the present dissertation proposed to study the relationship between biological characteristics related to the basis of chemoresistance to Ara-C in AML-MLL. We proposed an approach based on the selection of subpopulations of cell lines bearing MLL rearrangement submitted to the long-term treatment with Ara-C, comparing them with the cell lines that were not previously exposed to the drug. The cells were characterized according to: 1) the proliferative potential in the presence and absence of Ara-C; 2) the distribution of the cells in the cell cycle; 3) distribution of hematopoietic stem cell classic surface markers, CD34 and CD38; and, 4) global expression profile of transcribed RNAs. The long-term treatment selected cells that are more resistant to Ara-C than the cells that were not previously treated (parental cells). Besides, according to cell cycle, the cells selected by Ara-C treatment present decreased apoptosis (sub-G1 phase), accumulation in the synthesis phase (S-phase) and increase in the proliferative capability after re-exposition to the drug (G2-M phase). Regarding the hematopoietic stem cell markers, we observed that after Ara-C long-term treatment, one of the cell lines exhibited a bimodal distribution of the CD38 marker. When sorted by flow cytometry, we observed that both subpopulations with distinct levels of CD38 expression, called MV-4-11 CD38High and MV-4-11 CD38Low also showed distinct response to Ara-C. When evaluated regarding to their global gene expression profiles, we verified that MV-4-11 CD38High were more closely related to the parental cells, and MV-4-11 CD38Low made up an isolated group, distinct of the other cell populations. Gene ontology (GO) analysis revealed that among the most representative categories of biological processes, activities associated with proliferative capability, development and response to stimuli were included. The hierarchical clustering analysis showed that: 1) the cluster HOXA of genes of development was more expressed in the MV-4-11 CD38Low than in the MV-4-11 CD38High cells, that presented increased expression of HOXB cluster; 2) the most differentially expressed HOX gene was HOXA13, which according to the literature is associated with poor prognosis in other types of cancer; 3) among the genes associated with response to stimuli, the only one related to Ara-C-metabolizing pathway that was differentially expressed between the cell lines was NME1; 4) those genes that take part in the mismatch repair, base excision repair and nucleotide excision repair pathways were more expressed in the MV-4-11 CD38High than in the MV-4-11 CD38Low cells. Additionally, several cyclin-dependent kinases (CDKs) were also differentially expressed between MV-4-11 CD38High and MV-4-11 CD38Low. Finally, we suggest that the in vitro model proposed in this study to mimic the situation of chemoresistance to Ara-C in subpopulations of AML-MLL, showed that the mechanisms of Ara-C response in this disease, go beyond changes in drug detoxification and metabolization, and seem more associated to proliferative and development advantages of the leukemic cells. These pathways should be explored as potential targets to Ara-C combination therapies.
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21

Leis, Thomas. "Charakterisierung genomischer Bruchpunkte innerhalb des MLL-Gens bei Leukämien im Kindesalter." [S.l.] : [s.n.], 2000. http://deposit.ddb.de/cgi-bin/dokserv?idn=961722878.

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22

Trentin, Luca. "Microarray Analysis: a Leading Tool in the Classification and Biological Characterization of Pediatric Onco-Hematological Diseases." Doctoral thesis, Università degli studi di Padova, 2010. http://hdl.handle.net/11577/3427012.

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Gene Expression Profile (GEP) analysis through microarrays represents a powerful tool for the classification, the prediction and the identification of several leukemia subclasses. In this thesis, we have reported the results we have obtained applying the microarray technology to the study of pediatric onco-hematological diseases. A huge amount of reports have highlighted the robustness of GEP in the classification of leukemia in both children and adults and these results support the application of microarrays in future routine diagnostic settings. Since the quality of RNA used for the experiments is one of the critical factors when performing microarrays analysis and seeing that all laboratories commonly use their own distinctive RNA isolation protocol, we have questioned the influence of the three most frequently used extraction protocols in the gene expression profile analysis of pediatric leukemia. Our data have showed that different sample preparation procedures do not impair samples classification and that the underlying biological characteristics of the pediatric acute leukemia classes largely exceed the variations between different RNA preparation protocols. We have then applied GEP analysis to the study of MLL/AF4-rearranged B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Among the MLL/AF4 BCPs leukemia samples, we have identified the presence of two subgroups of patients characterized by a distinctive gene expression signature in which the down-regulation of the HOXA genes is a particularly outstanding factor. HOXA genes deregulation, indeed, is commonly believed to be a key mechanism of MLL-fusion gene mediated leukemogenesis. Apart from the differential HOXA genes expression level in these subgroups of patients, no transcriptional deregulation of other known MLL-related genes (i.e. MENIN, HOXC8 and MEIS1) could be identified. We have also performed a microRNA expression profile analysis of the patients characterized by the up- or down-regulation of HOXA genes and we have demonstrated that they are characterized also by a distinct microRNA signature. Interestingly, patients displaying a low expression value of HOXA genes do not express the miR-196b which is located within the HOXA cluster and which is involved in leukemogenesis. Furthermore, we have used microarray analysis to study Juvenile Myelomonocytic Leukemia (JMML). Remarkably, we could distinguish two distinct subgroups among the analyzed patients and this subdivision resulted to have a high prognostic value in the identification of subgroups of patients with distinct clinical outcome. The same result is not reproducible if the usual clinical factors (fetal Hb, age at diagnosis and platelet count) are applied. Finally, we have focused on the role of the suppressor of cytokine signaling 2 (SOCS-2). This gene is reported to be up-regulated in stem cells and we have identified SOCS-2 as one of the most up-regulated genes in MLL/AF4 patients irrespective of HOXA gene expression level, when comparing t(4;11) samples with normal bone marrow controls. Transient silencing of SOCS-2 in the lymphoid cell line RS4;11 showed that SOCS-2 depletion induces apoptosis in silenced cells and that this process is characterized by the concurrent increased expression of TP53 and BAX. Thus, SOCS-2 up-regulation seems to be a mechanism in RS4;11 cells to impair apoptosis activation. We have analyzed SOCS-2 expression levels in patients belonging to several different ALL subclasses and have found that SOCS-2 is up-regulated in all but T-lineage leukemia. This finding suggests that SOCS-2 up-regulation could be a common mechanism in ALLs to prevent induction of apoptosis.
L’analisi del profilo d’espressione genica mediante microarray rappresenta uno strumento utile per la classificazione delle leucemie in ambito diagnostico, l’identificazione di nuove sottoclassi di malattia e l’associazione di profili d’espressione genica con la prognosi. I molteplici lavori pubblicati nell’ambito delle malattie onco-ematologiche sia nell’adulto che nel bambino hanno evidenziato la robustezza della tecnologia microarray ed auspicano, quindi, l’ utilizzo dei microarrays in affiancamento alle metodiche “gold standard” per la diagnosi di leucemia. Considerando che la qualità dell’RNA di partenza è un fattore determinante per la buona riuscita di un esperimento di studio dell’espressione genica, abbiamo valutato se diverse metodiche di isolamento dell’RNA avessero una qualche influenza sulla variazione del profilo d’espressione genica. I risultati ottenuti nel nostro studio, analizzando diversi sottotipi di leucemie pediatriche, hanno evidenziato che le metodiche impiegate per l’estrazione dell’RNA non vanno ad influire sul profilo d’espressione genico e che quest’ultimo rimane, comunque, ben identificabile a prescindere dalla metodologia usata per l’isolamento dell’RNA. Applicando, poi, l’analisi microarrays alle leucemie a cellule precursori B e con traslocazione MLL/AF4, abbiamo individuato, all’interno di questo sottotipo di leucemia ritenuto fino ad ora omogeneo, due sottogruppi di pazienti caratterizzati da un differente profilo d’espressione genica in cui spiccava la diversa espressione dei geni HOXA. Questo risultato è alquanto sorprendente poiché la maggiore espressione dei geni HOXA è una caratteristica distintiva delle leucemie con riarrangiamento del gene MLL. Non abbiamo identificato nessuna altra variazione d’espressione di geni (per es. MENIN, HOXC8 e MEIS1) comunemente associati con le leucemie con riarrangiamento del gene MLL. Anche l’analisi del profilo dell’espressione dei microRNA ha dimostrato che questi pazienti possono essere suddivisi in due sottogruppi ben distinti ed, inoltre, ha evidenziato che i pazienti con bassa espressione dei geni HOXA non esprimono il microRNA mir-196b, che è localizzato nel medesimo cluster dei geni HOXA e che è coinvolto nei processi di leucemogenesi. Lo studio del profilo d’espressione genica di pazienti affetti da leucemia mielomonocitica giovanile (JMML) ci ha, poi, consentito di dividere i campioni analizzati in due sottogruppi. Questa suddivisione è associata, in modo altamente significativo, con la prognosi di malattia. Il medesimo risultato prognostico non è conseguibile prendendo in considerazione i fattori prognostici clinici standard (emoglobina fetale, età alla diagnosi e conta piastrinica). Infine, abbiamo studiato il ruolo del gene SOCS-2 nelle leucemie con riarrangiamento MLL/AF4. Questo gene, up-regolato nelle cellule staminali, è uno dei geni maggiormente espressi nei pazienti con MLL/AF4 rispetto ai controlli normali. Il silenziamento di SOCS-2 nelle cellule RS4;11 determina un aumento dell’apoptosi rispetto alle cellule silenziate con un siRNA di controllo ed una simultanea maggiore espressione di TP53 e BAX. L’over-espressione di SOCS-2 nelle cellule RS4;11 sembra essere, quindi, un meccanismo in grado di aumentare la sensibilità di queste cellule all’apoptosi. L’analisi dell’espressione di SOCS-2 in più pazienti affetti da leucemia linfoblastica acuta (LLA) ha evidenziato che SOCS-2 è over-espresso in tutte le LAL tranne le LAL a cellule T. Questo dato suggerisce che l’azione anti-apoptotica di SOCS-2 potrebbe essere comune in più sottotipi di leucemia.
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23

Green, Jonathan A. "Trophoblast-expressed genes within the ungulates /." free to MU campus, to others for purchase, 1997. http://wwwlib.umi.com/cr/mo/fullcit?p9842531.

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24

Fazza, Ana Carolina. "Mapeamento de genes de resistência a três raças de Podosphaera xanthii em meloeiro (Cucumis melo L.)." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/11/11137/tde-23052011-155253/.

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O meloeiro (Cucumis melo L.) é uma cultura de grande importância econômica para o comércio de exportação brasileiro e é cultivada principalmente na região Nordeste. A produção da cultura pode ser limitada por uma doença das partes aéreas, denominada oídio, sendo no Brasil, causada pelo fungo Podosphaera xanthii. Este patógeno apresenta diversas raças definidas com base na reação de um conjunto de cultivares diferenciadoras de meloeiro. Dentre estes genótipos, o acesso PI 414723 é resistente à maior parte das raças e a linhagem Védrantais é suscetível. O presente trabalho teve como objetivos: (i) estudar a herança da resistência às raças 1, 3 e 5 de P. xanthii em indivíduos da geração F2 do cruzamento PI 414723 x Védrantais e (ii) mapear os genes de resistência a estas raças com base em marcadores de polimorfismo de comprimento de fragmentos amplificados (AFLP), de repetições de sequências simples (SSR) e análogos de genes de resistência (RGA) também nesta população. A herança da resistência foi analisada em 87 indivíduos F2 cultivados em condições de casa-de-vegetação. As três raças foram inoculadas em seis regiões eqüidistantes da nervura central em quatro folhas de cada planta. Plantas foram classificadas como resistentes ou suscetíveis com base em avaliações visuais do desenvolvimento do fungo nas folhas. As plantas foram classificadas como suscetíveis quando houve reprodução abundante de conídios e resistentes quando a reprodução foi inexistente ou escassa. Frequências de indivíduos resistentes e suscetíveis indicaram que a resistência às três raças é controlada por um gene dominante de efeito maior. Um mapa genético foi construído compreendendo 1.469 cM, consistindo de 207 marcadores (139 AFLP, 47 SSR, 18 RGA e três fenotípicos) e com uma distância média de 7,4 cM entre marcadores distribuídos em 12 grupos de ligação. Análises de co-segregação com marcadores indicaram que os genes de resistência estão localizados no grupo de ligação II. Em adição a isto, as análises indicaram ligação completa entre os genes de resistência às raças 1 e 5, sendo este gene denominado Pm-x1.5. Já o gene de resistência à raça 3 (Pm-x3) foi localizado a 5,1 cM dos demais. Um marcador AFLP (H35M75_156) foi localizado entre os dois genes a 1,3 cM de Pm-x1.5 e 3,8 cM de Pm-x3. Este é o primeiro relato da localização genética de genes de resistência às raças 3 e 5 em PI 414723 e também o primeiro relato do mapeamento de marcadores RGA gerados pela técnica TRAP em meloeiro.
Melon (Cucumis melo L.) is a crop of great economic importance for the export trade in Brazil and is cultivated mainly in the Northeast. Crop yield can be affected by a disease of the aerial parts, called powdery mildew that in Brazil is caused by the fungus Podosphaera xanthii. This pathogen has several races characterized based on the reaction of a set of differential melon cultivars. Among these genotypes, the plant introgression PI 414723 is resistant to most races and the breeding line Védrantais is susceptible. This study aimed to: (i) study the inheritance of resistance to races 1, 3 and 5 of P. xanthii in the F2 generation from the cross PI 414723 x Védrantais, and (ii) map resistance genes to these races in this same population based on amplified fragment length polymorphism (AFLP), simple sequence repeat (SSR) and resistance gene analog (RGA) markers. The inheritance of resistance was analyzed on 87 F2 individuals grown under greenhouse conditions. The three races were inoculated simultaneously on four leaves of each plant. Plants were classified as resistant or susceptible based on visual assessments of fungal growth on the leaves. Plants were considered susceptible when there was abundant production of conidia and resistant when the production was scarce or non-existent. The frequencies of resistant and susceptible individuals indicated that resistance to all three races is controlled by a dominant major gene. A genetic map was constructed comprising 1469 cM, consisting of 207 markers (139 AFLP, 47 SSR, 18 RGA, and three phenotypic) with an average distance of 7.4 cM between markers distributed in 12 linkage groups. Co-segregation analysis with markers indicated that the resistance genes are located on linkage group II. Moreover, the analysis indicated complete linkage between resistance to races 1 and 5, and this gene was denominated Pm-x1.5. The gene for resistance to race 3 (Pm-x3) was located at 5.1 cM from Pmx1.5. An AFLP marker (H35M75_156) was located between the two genes at 1.3 cM from Pmx1.5 and 3.8 cM from Pm-x3. These is the first report on the location of resistance genes to races 3 and 5 in PI 414723, and also the first report of RGA markers mapping using the TRAP technique in melon.
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25

Högkvist, Linda. "”För man får va som man vill” : Barns uppfattning om könsroller utifrån högläsning och diskussion om Mio min Mio av Astrid Lindgren och Snäll av Gro Dahle och Svein Nyhus." Thesis, Karlstads universitet, Institutionen för språk, litteratur och interkultur, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:kau:diva-31301.

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Som medmänniskor och i lärarprofessionen anser jag att vi måste ha en bra förståelse för genus, då det påverkar vår pedagogiska grundsyn och hur vi är som människor. För att kunna utmana könsnormer på ett konstruktivt sätt menar jag att vi måste förstå vad barnen har för syn på genus och tankar om skillnader mellan pojkar och flickor ur jämställdhetssynpunkt. Studien handlar om barns tankar om genus och könsroller utifrån högläsning av Astrid Lindgrens Mio min Mio (2011/ 1954) och Gro Dahle & Svein Nyhus Snäll (2008). Mio i Mio min Mio (2011/ 1954) representerar den snälla, men modiga manliga huvudrollen och Lussi i Snäll (2008) representerar den snälla, men normbrytande kvinnliga huvudrollen. Huvudsakliga frågeställningar är hur barnen i en klass 6 tolkar den valda litteraturen i ett genusperspektiv, samt hur den påverkar barnen i deras tankar om genus/ könsroller. Det intressanta är att det i varje tid med sin kultur och historia, finns rum för förändring (Hedlin 2010 s.20). Sker denna förändring i mötet med böckerna? Eleverna har fått svara på en enkät om genusperspektivet i respektive bok och jag har valt att analysera sex elevers enkäter, tre pojkar och tre flickor. Resultaten visar att barnen sett ett tydligt genusperspektiv i litteraturen, och utifrån detta har de utvecklat sin förståelse och i slutändan kunnat formulera sina tankar om genus och könsroller på ett djupare plan.
As fellow people and in the teaching profession, I believe that we need to have a good understanding about gender, because it affects our educational basic view and how we behave as humans. To be able to constructively challenge the current gender norms, I believe that we need to understand our pupils understanding in the subject of gender. We also need to understand their thoughts about the differences between boys and girls in a gender perspective. The study is about the pupils thoughts of gender and gender norms after reading aloud and having discussions about Astrid Lindgrens Mio, my son (2011/ 1954) and Gro Dahle & Svein Nyhus Snäll (Kind authors translation) (2008). Mio in Mio, my son (Lindgren 2011/ 1954) represent the kind, but brave boy as a main character and Lussi in Snäll (Dahle & Nyhus 2008) represents the kind, but norm breaking girl as the main character. The main issues are how pupils in the 6th grade interpret the chosen literature from a gender perspective, and how it affects the students in their thoughts about gender and gender norms. What is interesting is that in every time with its own culture and history, there is room for change (Hedlin 2010 s.20). Does this change happen when the pupil interacts with the books? The pupils have answered a questionnaire about the gender perspective in each book, and I chose to analyze the questionnaires of six pupils, three boys and three girls. The results show that the pupils have seen a clear gender perspective in the literature and on this basis, they developed their understanding and ultimately, they have been able to formulate their thoughts about gender and gender roles on a deeper level.
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26

SALLES, Terezinha de Jesus Marques. "Estudos citogenéticos nas leucemias do lactente." Universidade Federal de Pernambuco, 2010. https://repositorio.ufpe.br/handle/123456789/6024.

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Made available in DSpace on 2014-06-12T18:01:07Z (GMT). No. of bitstreams: 2 arquivo3047_1.pdf: 3228564 bytes, checksum: 23acd94f90ada864423eb7173c3cd7c9 (MD5) license.txt: 1748 bytes, checksum: 8a4605be74aa9ea9d79846c1fba20a33 (MD5) Previous issue date: 2010
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
A análise citogenética convencional e molecular nas leucemias do lactente (LL) é de fundamental importância para estabelecer alterações cromossômicas e que definem grupos e subgrupos de risco. Este estudo caracterizou alterações cromossômicas em 83 lactentes, oriundos do Centro de Oncohematologia do Hospital Universitário Oswaldo Cruz e Centro de Transplante de Medula Óssea do Instituto Nacional do Cancer (CEMO/INCA) no período de julho/2000 a agosto/2010, sendo 73 casos de leucemias agudas (LA) e 10 de síndrome mielodisplásica (SMD). As Leucemias agudas foram classificadas como leucemia linfoblástica aguda (LLA) (47 casos), leucemia mielóide aguda (LMA) (23 casos) e leucemias ambíguas (3 casos). A idade dos pacientes com leucemia linfoblástica aguda variou de 5 dias a 22 meses, com proporção entre os sexos de 1:1. A idade dos casos de leucemia mielóide aguda variou de 2 a 21 meses, sendo 15 masculinos e 7 femininos. Os subtipos morfológicos foram leucemia mielóide com diferenciação (M2), leucemia mielomonocítica (M4), leucemia mielomonocítica eosinofílica (M4eo), leucemia monoblástica (M5) e leucemia megacarioblástica (M7). O bandeamento G (GBG) revelou anormalidades da região 11q23 em 38% dos casos de leucemia linfoblástica e em 50% dos casos de leucemia mieloblástica. O rearranjo do gene MLL por hibiridização in situ foi observado em 65% e 39% das leucemias linfoblásticas e leucemia mielóide, respectivamente. Nos casos com síndrome mielodisplásicas, a idade variou entre 20 dias a 20 meses, sendo seis do sexo masculino e quatro do feminino. Sete casos foram leucemia mieloblástica em portadores de S.Down, destes seis eram leucemias megacarioblásticas (LMA-K/LMA-M7) e uma leucemia mielóide sem diferenciação (LMA-MO). Todas as leucemias megacarioblásticas tiveram cariótipos complexos com translocações envolvendo o cromossomo 1. Os métodos de Hibridização in situ (FISH), multicolor FISH (M-FISH) e bandeamento cromossômico multicolorido (MCB), foram essenciais nos casos duvidosos pelo GBG, nos cariótipos complexos e nos casos de cromossomos marcadores
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27

Tsang, Hon-man. "Studies of Mll-Een fusion gene in a conditional mouse model of human leukemia." Click to view the E-thesis via HKUTO, 2007. http://sunzi.lib.hku.hk/HKUTO/record/B39558034.

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28

Lui, Wing-chi, and 呂穎芝. "Identification of leukemia-associated genes by MLL-EEN fusion protein through dysregulation of histone modification and DNA methylation." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hdl.handle.net/10722/196088.

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Mixed lineage leukemia (MLL) gene undergoes chromosomal translocation with over 60 different fusion partner genes in human leukemias. The resultant MLL-fusion oncoproteins are profoundly implicated in leukemias with poor prognosis. Epigenetic dysregulations have been frequently reported in MLL-rearranged leukemogenesis. Our study aims to investigate the correlations between epigenetic alterations, including both histone modification and DNA methylation, and gene dysregulation in MLL-rearranged leukemia. My study focused on MLL-EEN fusion protein, which causes an onset of acute myeloid leukemia (AML). A novel Mll-Een expressing cell line, VLA33, was derived from the bone marrow of Mll-Een knockin mouse with AML phenotype. The cells were mainly myeloblast cells, possessing clonogenic ability and showed upregulation of Hoxa cluster genes. Previous study demonstrated that the protein arginine methyltransferase 1 (PRMT1) plays a significant role in MLL-EEN leukemogenesis through conferring H4R3 asymmetric dimethylation (H4R3me2a) mark on HoxA9 locus. Consistently, our ChIP analysis demonstrated enrichment of H4R3me2a at the Hoxa promoters while knockdown of Prmt1 attenuated the expression of Hoxa genes and reduced in vitro clonogenic potential of VLA33 cells. CD41, Runx1 and Tgm2 genes, which showed elevated expression in VLA33 cells, were identified as potential target genes of Mll-Een/Prmt1 complex. However, enrichment of active H4R3me2a was only observed at Runx1 promoters, but not at the regulatory regions of CD41 and Tgm2. Inhibition of Prmt1 by inhibitor AMI-1 reduced Runx1 and CD41 expression. Although Prmt1 knockdown reduced the enrichment of H4R3me2a at Runx1 promoter, it did not suppress the expression of Runx1. These data suggest the involvement of other regulatory mechanism and Prmt1 is not the sole factor causing gene dysregulation. CD41 is a marker of murine definitive hematopoietic progenitors. Interestingly, the CD41+ VLA33 cells demonstrated a trend of enhanced self-renewal ability in colony-forming assay as compared with CD41-/low cells. The CD41 expression was positively correlated with Mll-Een and Prmt1 expression. In addition, CD41+ cells expressed higher level of Hoxa9, Bmi-1, Runx1, Tal-1 and Lmo2 genes that are associated with HSC activities, suggesting reactivation of stem-cell regulatory program in CD41+ leukemia cells, which confer as leukemia stem cell population. The association between DNA methylation and MLL-EEN leukemogenesis was also investigated. The results demonstrated the establishment of stem cell Hox code, which was correlated with DNA hypomethylation status at Hox gene promoters in Mll-Een leukemia cells. Besides, Hox activation through DNA hypomethylation was independent of Prmt1-mediated histone modification, but was found associated with reduction of Bmi-1 binding at Hox loci. In conclusion, my study identified novel dysregulated genes in Mll-Een leukemogenesis. My findings provide insight into the reactivation of stem-cell program in leukemia cells through epigenetic dysregulation, which furthers our understanding of MLL-rearranged leukemogenesis.
published_or_final_version
Pathology
Doctoral
Doctor of Philosophy
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29

Fleischmann, Katrin Kristina [Verfasser], and Elisabeth [Akademischer Betreuer] Weiss. "Identification of MLL-AF9 related target genes and microRNAs involved in leukemogenesis / Katrin Kristina Fleischmann. Betreuer: Elisabeth Weiss." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2012. http://d-nb.info/1042374007/34.

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30

Schuh, Artur Francisco Schumacher. "Farmacogenética da levodopa na doença de Parkinson : estudo de polimorfismos nos genes da COMT, MAO-B e DAT." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2010. http://hdl.handle.net/10183/39639.

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A doença de Parkinson é a segunda enfermidade neurodegenerativa mais frequente e acomete entre 1 a 2% das pessoas acima de 65 anos. Com a expectativa de envelhecimento da população, espera-se um aumento proporcional da prevalência desta doença, o que justifica uma preocupação crescente com o manejo dessa condição. A levodopa é fundamental para o manejo farmacológico desses pacientes, uma vez que é possível um controle quase ótimo dos sintomas, pelo menos nos primeiros anos de tratamento. Entretanto, em cinco anos, cerca de metade dos pacientes apresentarão complicações pelo uso crônico desta medicação, o que determinará piora da qualidade de vida e um desafio ao médico, no sentido de controlar esses fenômenos. As principais complicações crônicas são as flutuações da resposta motora, as discinesias e as alucinações. Este trabalho tem a proposta de investigar a gênese dessas alterações em sua relação com variações genéticas específicas. Foram selecionados polimorfismos em genes com plausibilidade biológica, por estarem envolvidos na farmacocinética e farmacodinâmica da levodopa. São eles: Val158Met da COMT (catecol-orto-metiltransferase), íntron 13 da MAO-B (monoamina oxidase B), VNTR (“variable number tandem repeat”) de 40pb da região 3'UTR (“untranslated region”) do DAT (transportador de dopamina) e -839C>T da região promotora 5' do DAT. A COMT e a MAO-B são as duas rotas enzimáticas de degradação da dopamina e o DAT é um transportador présináptico de dopamina. Foram selecionados pacientes com doença de Parkinson idiopática em acompanhamento no Serviço de Neurologia do HCPA com idade de início dos sintomas após os 45 anos e que estavam em uso de levodopa há pelo menos dois anos. Esses pacientes foram submetidos a um protocolo de avaliação clínica, com obtenção de informações relevantes para a determinação da presença das complicações, aplicação de escalas padronizadas e coleta de sangue (ver anexos para o protocolo e as escalas). Após, o material biológico foi submetido à extração de DNA e os polimorfismos determinados por análise de fragmentos de enzima de restrição, no Departamento de Genética da UFRGS. Entre os polimorfismos da COMT e da MAO-B não se observou diferença para a presença ou ausência de flutuação da resposta motora, discinesia e alucinação. Entretanto, pacientes com genótipo lento da COMT (MetMet) apresentaram menos complicações da terapia (desfecho aferido pela parte IV da UPDRS, “Unified Parkinson Disease Rating Scale”, que fornece um escore cuja pontuação baixa representa menos complicações da terapia). Fazendo análise dos subítens da escala, observou-se que esse efeito se deveu à menor presença de flutuação motora. Observamos ainda que os pacientes portadores do genótipo MetMet apresentaram idade de início da doença de Parkinson menor quando comparados aos portadores dos genótipos de atividade rápida (ValMet e ValVal). A diferença aproximada foi de 4 anos, com um p=0,03. Seguindo o estudo da influência genética sobre a idade de início, observou-se que homens hemizigotos para o alelo G da MAO-B apresentavam idade de início precoce em relação aos portadores do alelo A, com diferença aproximada de 5 anos e p=0,03. Tomados em conjunto os polimorfismos da COMT e da MAO-B, o efeito do genótipo lento MetMet da COMT sobre a idade de início foi potencializado naqueles com alelo A da MAO-B (homens hemizigotos A e mulheres homozigotas AA), com diferença aproximada de oito anos e p=0,001. Em relação ao gene do DAT, observou-se que a presença do alelo T do polimorfismo da região promotora está associada à maior frequencia de alucinação visual, com OR (“odds ratio”, ou razão de chances) de 5,17 e IC (intervalo de confiança) de 95% de 1,45-18,41 com p=0,01. Ademais, encontrou-se um achado a ser melhor explorado: pacientes portadores do alelo de 9 repetições do VNTR de 40pb necessitavam de maior dose para o controle dos sintomas parkinsonianos, com uma diferença aproximada de 100mg com p=0,042. Há na literatura estudos de associação desses polimorfismos com a presença da doença de Parkinson, entretanto, poucos avaliaram o efeito dessas variantes polimórficas sobre a resposta ao uso de levodopa e sobre outros fatores clínicos. Os resultados desta dissertação trazem informações importantes para o melhor entendimento da variabilidade da resposta farmacológica e sobre a fisiopatologia da doença de Parkinson.
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31

曾漢文 and Hon-man Tsang. "Studies of Mll-Een fusion gene in a conditional mouse model of human leukemia." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B39558034.

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32

Gracia-Maldonado, Gabriel. "Exploiting the MLL-rearranged leukemia gene signature to identify molecular targets for novel therapies." University of Cincinnati / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1573570752309466.

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33

Largeot, Anne. "Contrôle de l'expression du gène HOXA9 dans les cellules souches/progénitrices hématopoïétiques : rôle des enzymes épigénétiques MOZ et MLL, et du facteur de polyadénylation Symplekin." Thesis, Dijon, 2013. http://www.theses.fr/2013DIJOS080/document.

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Mon travail de thèse porte sur l’étude du rôle de l’histone acétyl-transférase MOZ et de l’histone méthyle-transférase MLL dans l’hématopoïèse. Elles contrôlent l’expression de nombreux gènes, nottament des gènes HOX, des facteurs de transcription connus pour leur rôle dans l’hématopoïèse normale et pathologique. Les deux protéines ont des gènes cibles communs tel qu'HOXA9. Ces observations nous ont conduit à rechercher une coopération fonctionnelle entre MOZ et MLL. Nous avons montré que MOZ était associée avec MLL dans les cellules souches/progénitrices humaines CD34+ afin d’activer la transcription des gènes HOXA5, HOXA7 et HOXA9. En effet, les deux protéines interagissent et sont recrutées au niveau de leur promoteur. Nous avons mis en évidence une interférence fonctionnelle entre ces deux facteurs épigénétiques, puisque MOZ est nécessaire au recrutement et à l’activité enzymatique de MLL au niveau des gènes HOXA5, HOXA7 et HOXA9 et réciproquement.Afin de caractériser le mécanisme d’action impliquant la coopération entre MOZ et MLL, nous avons recherché d’autres partenaires associés à ce duo. Nous avons identifié la Symplekin, un membre de la machinerie de polyadénylation. Nous avons mis en évidence l’interaction de la Symplekin avec MOZ et MLL dans les cellules de la lignée hématopoïétique humaine KG1. Les trois protéines sont co-recrutées sur le promoteur du gène HOXA9. Nous avons démontré le rôle ambivalent de la Symplekin. Bien qu’elle soit importante pour la polyadénylation et par conséquent pour la stabilité de l’ARN Hoxa9, la Symplekin empêche le recrutement de MOZ et de MLL au niveau du gène HOXA9, conduisant ainsi à une diminution de sa transcription
My thesis project has consisted of the study of MOZ, and MLL. They are epigenetic regulators. MOZ and MLL activate transcription of HOX genes, which are transcription factors essential during haematopoiesis. MOZ and MLL have some target genes in common. In our study, we characterised a cooperation between MOZ and MLL in human haematopoietic stem/progenitor cells CD34+. They are both recruited onto HOX promoters. MOZ is essential for MLL recruitment, and this is reciprocal. In conclusion, we provided an example of a mechanism involving a direct cross-talk between two histone modifying enzymes.In order to dissect the mechanism of action of this complex, we decided to identify novel proteins interacting with both MOZ and MLL. A member of the RNA polyadenylation machinery has been isolated: Symplekin. We confirmed the interaction between MOZ, MLL and Symplekin in the human haematopoietic immature cell line KG1. We showed that Symplekin is co-recruited to HOXA9 promoter along with MOZ and MLL. We demonstrated the dual role of this member of the polyadenylation machinery. Indeed, besides the fact that Symplekin is important for Hoxa9 polyadenylation, thus its stability, it prevents MOZ and MLL recruitment onto HOXA9 promoter, leading to a decrease of HOXA9 transcription.Our work improved the understanding of the mechanism of action of MOZ and MLL in HOX control
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34

Mason, Lyndel Ann. "Expression variation in lysosomal storage disorder genes." Thesis, Queensland University of Technology, 2006. https://eprints.qut.edu.au/16240/1/Lyndel_Mason_Thesis.pdf.

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Metachromatic leukodystrophy (MLD) and Gaucher disease (GD) are caused by a deficiency of arylsulphatase A (ASA) and b-glucocerebrosidase (GBA), respectively. They are lysosomal storage disorders with a heterogeneous clinical spectrum encompassing visceral, skeletal and neurologic involvement resulting in high morbidity and mortality. The overall aim of this study is to elucidate the genetic component/s of high ASA and GBA enzyme activity in normal healthy individuals with the ultimate goal of using this information to produce greater protein activity from a recombinant protein. A wide variation in ASA and GBA enzyme activity levels has been observed in the normal population. The first objective of this project was to identify and characterise single nucleotide polymorphisms (SNPs) in the arylsulphatase A (ARSA) and glucocerebrosidase (GBA) genes that are responsible for determining the levels of expressed enzyme activity in the normal population. The second objective was to assess the contribution of transcriptional regulation and TCP80 mediated translational control to normal enzyme variation. TCP80, a translational control protein that interacts with the GBA coding region, is a splice variant of the interleukin binding factor 3 (ILF3) gene. Ten samples from individuals with high ASA activity and twenty samples from individuals with high GBA activity were screened for polymorphisms via denaturing high pressure liquid chromatography (dHPLC) and sequencing. The frequency of these polymorphisms in the normal population was determined using dot-blot hybridisation. Fifteen ARSA polymorphisms (4 promoter, 5 coding, 5 intronic and 1 poly(A) signal) and two GBA polymorphisms (1 intronic and 1 in 3¢-UTR) were identified. Two low frequency ASA polymorphisms (2723A > G, W193C) were found to be correlated with low activity, while another low frequency ASA polymorphism (1101+123C > T) was found to be correlated with high activity in a population of 113 individuals. Real time PCR was used to measure mRNA levels of GBA, ASA and LF3 along with enzyme activity levels of GBA and ASA in two cell types (leucocytes and skin fibroblasts) from four healthy individuals and seven cell lines (HL60, THP1, Huh7, U118, SW1353, Hep G2, and B-cells). Transcriptional control was evident for all three genes with GBA mRNA levels varying over 30 fold, ASA mRNA levels varying over seven fold and ILF3 levels varying more than 24 fold. The 5¢-flanking region of GBA was investigated for the cis-elements responsible for tissue-specific expression. However, it was not possible to demonstrate that the cis-element region was influencing GBA expression. Translational efficiency was measured using the magnitude of the mRNA:enzyme activity ratio as an indicator. GBA translational inefficiency was most pronounced in B cells which require four times more mRNA molecules than hepatocytes (Hep G2) and over 25 times more mRNA molecules than chondrocytes (SW1353) to produce one unit of GBA enzyme activity. Except in B-cells, GBA translational efficiency appears to increase as ILF3 mRNA levels decrease. The tissue-specific variation observed in the protein levels of the ILF3 splice variants, TCP80 and DRBP76, may play a role. The correlation of several low frequency SNPs with low ASA enzyme activity or high ASA activity indicates a role in determining the distribution of enzyme activity levels in the normal population. However, there do not appear to be any common high activity polymorphisms. Knowledge of the exact mechanisms responsible for the observed transcriptional and translational control of these lysosomal genes will greatly enhance the understanding of genotype-phenotype correlation and the contribution of genetic variants to natural variation.
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35

Lammers, Mark C. "Genus n Banach spaces /." free to MU campus, to others for purchase, 1997. http://wwwlib.umi.com/cr/mo/fullcit?p9841162.

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36

Mason, Lyndel Ann. "Expression variation in lysosomal storage disorder genes." Queensland University of Technology, 2006. http://eprints.qut.edu.au/16240/.

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Metachromatic leukodystrophy (MLD) and Gaucher disease (GD) are caused by a deficiency of arylsulphatase A (ASA) and b-glucocerebrosidase (GBA), respectively. They are lysosomal storage disorders with a heterogeneous clinical spectrum encompassing visceral, skeletal and neurologic involvement resulting in high morbidity and mortality. The overall aim of this study is to elucidate the genetic component/s of high ASA and GBA enzyme activity in normal healthy individuals with the ultimate goal of using this information to produce greater protein activity from a recombinant protein. A wide variation in ASA and GBA enzyme activity levels has been observed in the normal population. The first objective of this project was to identify and characterise single nucleotide polymorphisms (SNPs) in the arylsulphatase A (ARSA) and glucocerebrosidase (GBA) genes that are responsible for determining the levels of expressed enzyme activity in the normal population. The second objective was to assess the contribution of transcriptional regulation and TCP80 mediated translational control to normal enzyme variation. TCP80, a translational control protein that interacts with the GBA coding region, is a splice variant of the interleukin binding factor 3 (ILF3) gene. Ten samples from individuals with high ASA activity and twenty samples from individuals with high GBA activity were screened for polymorphisms via denaturing high pressure liquid chromatography (dHPLC) and sequencing. The frequency of these polymorphisms in the normal population was determined using dot-blot hybridisation. Fifteen ARSA polymorphisms (4 promoter, 5 coding, 5 intronic and 1 poly(A) signal) and two GBA polymorphisms (1 intronic and 1 in 3¢-UTR) were identified. Two low frequency ASA polymorphisms (2723A > G, W193C) were found to be correlated with low activity, while another low frequency ASA polymorphism (1101+123C > T) was found to be correlated with high activity in a population of 113 individuals. Real time PCR was used to measure mRNA levels of GBA, ASA and LF3 along with enzyme activity levels of GBA and ASA in two cell types (leucocytes and skin fibroblasts) from four healthy individuals and seven cell lines (HL60, THP1, Huh7, U118, SW1353, Hep G2, and B-cells). Transcriptional control was evident for all three genes with GBA mRNA levels varying over 30 fold, ASA mRNA levels varying over seven fold and ILF3 levels varying more than 24 fold. The 5¢-flanking region of GBA was investigated for the cis-elements responsible for tissue-specific expression. However, it was not possible to demonstrate that the cis-element region was influencing GBA expression. Translational efficiency was measured using the magnitude of the mRNA:enzyme activity ratio as an indicator. GBA translational inefficiency was most pronounced in B cells which require four times more mRNA molecules than hepatocytes (Hep G2) and over 25 times more mRNA molecules than chondrocytes (SW1353) to produce one unit of GBA enzyme activity. Except in B-cells, GBA translational efficiency appears to increase as ILF3 mRNA levels decrease. The tissue-specific variation observed in the protein levels of the ILF3 splice variants, TCP80 and DRBP76, may play a role. The correlation of several low frequency SNPs with low ASA enzyme activity or high ASA activity indicates a role in determining the distribution of enzyme activity levels in the normal population. However, there do not appear to be any common high activity polymorphisms. Knowledge of the exact mechanisms responsible for the observed transcriptional and translational control of these lysosomal genes will greatly enhance the understanding of genotype-phenotype correlation and the contribution of genetic variants to natural variation.
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37

Tu, Liwen. "Cloning and sequence analysis of multiple genes from Bifidobacterium infantis /." free to MU campus, to others for purchase, 2004. http://wwwlib.umi.com/cr/mo/fullcit?p3137758.

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38

江卓庭 and Cheuk-ting Kong. "Understanding the function of the Mll-een leukaemic fusion gene by embryonic stem cell approaches." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B31244312.

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39

Cova, Valentina <1978&gt. "Isolamento di marcatori microsatelliti strettamente associati al gene di resistenza a ticchiolatura Vm in melo." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2008. http://amsdottorato.unibo.it/723/1/Tesi_Cova_Valentina.pdf.

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40

Cova, Valentina <1978&gt. "Isolamento di marcatori microsatelliti strettamente associati al gene di resistenza a ticchiolatura Vm in melo." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2008. http://amsdottorato.unibo.it/723/.

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41

Gassó, Astorga Patricia. "Estudio de asociación de polimorfismos en los genes "COMT, MAO-A, MAO-B" y "DAT" con el riesgo de esquizofrenia y de aparición de efectos extrapiramidales en pacientes tratados con antipsicóticos." Doctoral thesis, Universitat de Barcelona, 2008. http://hdl.handle.net/10803/1641.

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La esquizofrenia es una enfermedad mental que afecta al 1% de la población mundial. Los pacientes esquizofrénicos reciben fármacos antipsicóticos (APs) para tratar la sintomatología de la enfermedad. Uno de los efectos secundarios causado por el consumo de estos fármacos consiste en un grupo de alteraciones motoras conocidas como síntomas extrapiramidales o EPS.
Factores genéticos determinan, en parte, tanto el riesgo de sufrir esquizofrenia como el de desarrollar EPS en pacientes tratados con APs. Una de las teorías fisiopatológicas de la esquizofrenia defiende la existencia de un exceso de actividad dopaminérgica en los cerebros de estos pacientes, dado que el principal mecanismo de acción de los APs es el bloqueo de los receptores dopaminérgicos. No obstante, este mismo bloqueo a nivel del estriado sería lo que desencadenaría la aparición de EPS. La homeostasis de la dopamina en la sinapsis se lleva a cabo mediante su recaptación por parte del transportador de dopamina (DAT) y mediante su metabolismo por parte de las enzimas Catecol-O-Metiltrasferasa (COMT) y Monoamino Oxidasa (MAO). Polimorfismos genéticos que den lugar a una menor actividad de COMT, MAO y DAT, y que por lo tanto determinarían una mayor disponibilidad de dopamina, darán lugar a un mayor riesgo de esquizofrenia y a un menor riesgo de EPS.
Los objetivos principales de esta tesis han sido realizar un estudio de asociación entre polimorfismos de COMT (G158A y -278 A/G), MAO-A (30bp-VNTR y 941T/G), MAO-B (A/G intrón 13) y DAT (40bp-VNTR y -67A/T), y de sus respectivos haplotipos, tanto con el riesgo de esquizofrenia como con el riesgo de aparición de síntomas extrapiramidales inducidos por antipsicóticos. Los objetivos secundarios fueron realizar un estudio descriptivo de las frecuencias genotípicas de estos polimorfismos en nuestra población general de referencia, y diseñar y poner a punto un método de genotipado multiplex para el análisis de los polimorfismos VNTR de MAO-A y DAT.
Para ello se reclutaron 500 pacientes del Servicio de Psiquiatría del Hospital Clínico de Barcelona entre los años 2002 y 2004. 243 fueron diagnosticados con esquizofrenia y trastornos relacionados, que junto con 291 controles de base hospitalaria, permitieron realizar el estudio de riesgo de esquizofrenia. 270 pacientes esquizofrénicos y con trastorno bipolar tratados con terapia antipsicótica se incluyeron en el estudio de riesgo de EPS. 81 casos desarrollaron extrapiramidalismo (Simpson Angus > 3) y 189 controles no desarrollaron esta sintomatología (Simpson Angus ≤ 3). A partir de una muestra de sangre entera de todos los participantes realizamos el aislamiento de ADN genómico. Los polimorfismos seleccionados se genotiparon mediante diferentes métodos validados incluyendo PCR-RFLP, ASO-PCR y PCR multiplexelectroforesis capilar.
En el estudio de riesgo de esquizofrenia, observamos que los individuos heterocigotos AG para el polimorfismo COMT -278A/G reducían el riesgo de sufrir la enfermedad en un 60% (OR: 0.4, p=0.009). Además detectamos al alelo G del polimorfismo MAO-B A/G intrón 13 como un factor de riesgo de esquizofrenia (OR:2.3 p=0.006). Cuando realizamos el análisis estratificando por sexo, el alelo G fue un factor de riesgo únicamente en mujeres (Alelo G, OR:2.6; homocigotas GG, OR:6.7; p=0.01). En cuanto al estudio de riesgo de EPS, el haplotipo A-A mostró ser un factor de protección pero únicamente en los pacientes bipolares (p=0.006).
Nuestros resultados sugieren que los polimorfismos COMT -278 A/G y and MAO-B A/G intrón 13 pueden contribuir al riesgo de desarrollar esquizofrenia. Además, este es el primer trabajo donde se encuentra una asociación entre polimorfismos en la COMT y la susceptibilidad a los EPS. Este resultado es especialmente interesante si tenemos en cuenta el incremento del uso de fármacos antipsicóticos en pacientes bipolares.
Schizophrenia is a multifactorial disease with an important genetic factor. Schizophrenic patients are treated with antipsychotic drugs (APs), which may cause extra pyramidal symptoms (EPS). Genetic factors may also predispose patients to develop this adverse effect. Both schizophrenia risk and EPS risk depend, partly, on brain dopamine levels. The homeostasis of this neurotransmitter is carried out by the action of the dopamine transporter (DAT) and the action of the Catechol-O-Methyltrasferase (COMT) and Monoamine Oxidase (MAO) enzymes. According to this, the aim of this research was to examine the relationship between the COMT (G158A and -278 A/G), MAO-A (30bp-VNTR and 941T/G), MAO-B (A/G intrón 13) and DAT (40bp-VNTR and -67A/T) polymorphisms, and their corresponding haplotypes, and the risk of schizophrenia as well as the risk of EPS.
243 patients with schizophrenia and related disorders and 291 controls were included in the study of schizophrenia risk. 270 patients receiving AP therapy (81 cases and 189 controls) were included in the study of EPS risk. Selected polymorphisms were genotyped following various validated methods, including PCR-RFLP, ASO-PCR and multiplex PCR-Capillary electrophoresis.
In the study of schizophrenia, the heterozygotes for the COMT -278A/G polymorphism had a reduced risk of suffering the disease (OR: 0.4, p=0.009). We also identified allele G of the MAO-B A/G intron 13 polymorphism as a risk factor for schizophrenia (OR:2.3 p=0.006). When we carried out a sex-specific analysis, the allele G was a risk factor only in women (Allele G, OR:2.6; homozygotes GG, OR:6.7; p=0.01). In the study of EPS risk, the A-A haplotype of COMT showed to be a protective factor, but only in the bipolar patients (p=0.006). These results suggest that the COMT -278 A/G and MAO-B A/G intron 13 polymorphisms may contribute to the risk of developing schizophrenia. Moreover, this is the first study of an association between COMT polymorphisms and EPS susceptibility. This result is especially interesting if we take into account the increased use of AP drugs in bipolar patients.
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42

Lee, Sungkeun. "Molecular genetic analysis of nucleotide excision repair genes in Dictyostelium discoideum /." free to MU campus, to others for purchase, 1997. http://wwwlib.umi.com/cr/mo/fullcit?p9841209.

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43

Wong, Christine. "Construction & Evaluation of a Reporter Gene Displaying Aldehydes on the Cell Surface." Thesis, Université d'Ottawa / University of Ottawa, 2020. http://hdl.handle.net/10393/41214.

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Reporter genes are often used to observe expression of promoters, which may change from its natural behaviour as a result of stress or disease states. Reporter genes are useful because they are easily detectable by a variety of imaging methods, including fluorescence microscopy techniques, magnetic resonance imaging, and positron emission tomography. Previously, methyl 5-MeO-N-aminoanthranilate (MMNA) had been synthesized as an aldehyde-conditional fluorophore and was tested in physiological conditions to identify the Aldehydic Load of cells. Thus, it was hypothesized that a reporter protein displaying an aldehyde on the cell surface can be identified by MMNA. This reporter protein would contain a substrate recognition site for formylglycine generating enzyme (FGE) that converts a specific cysteine residue into a formylglycine residue. This will result in production of an aldehyde at the N-terminal of the transmembrane domain of platelet derived growth factor receptor . In this way, the protein product, Aldehyde-presenting FGE-dependent Readout (Alfred), would display an aldehyde on the extracellular surface of the cell. Alfred was expressed in A549 human lung cancer cells using the Tet-On® Inducible System, which allows expression of a gene of interest by use of doxycyclin (dox) as a chemical trigger. Microscopy of Alfred-transfected cells, induced by dox and probed with MMNA, showed no difference in fluorescence between non-transfected and Alfred-transfected cells. The overexpression of FGE to increase thiol-to-aldehyde conversion, and the imaging of cells at longer timepoints (48 and 72 hours) to allow localization of the protein to the cell surface, were attempted. In addition, Alfred was constitutively expressed in another transfection experiment in efforts to increase gene expression. However, these efforts to evaluate Alfred did not improve the microscopy results. Western blotting confirmed FGE overexpression in transgenic cells. Blotting against the Myc-tag in Alfred showed no detected proteins in Alfred-transfected cells. In conjunction with the microscopy images, these results suggest that Alfred is not expressed and cannot be detected as a reporter gene. Comparison to previous works allows the identification of potential approaches to improve Alfred functionality, including the absence of the hemagglutinin epitope, the choice of aldehyde probe used, the choice of cell line used, and the method of analyzing microscopy. Future directives are postulated to identify sources that hinder Alfred expression, and to improve visualization of Alfred over homeostatic aldehydes.
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44

Li, Mao [Verfasser], and Carsten [Akademischer Betreuer] Schmuck. "Development of novel peptide based gene delivery vector and supramolecular assembly / Mao Li ; Betreuer: Carsten Schmuck." Duisburg, 2016. http://d-nb.info/1120923557/34.

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45

Yu, Sung-Lim. "Analysis of the response of nucleotide excision repair genes in Dictyostelium discoideum /." free to MU campus, to others for purchase, 1997. http://wwwlib.umi.com/cr/mo/fullcit?p9841196.

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46

Kuznicki, Kathleen. "The function of the germline rna helicase (GLH) genes in caenorhabditis elegans." free to MU campus, to others for purchase, 2000. http://wwwlib.umi.com/cr/mo/fullcit?p9988682.

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47

Ricarte, Anânkia de Oliveira. "Herança da resistência do acesso AC-02 às raças 1 e 5 de Podosphaera xanthii em meloeiro." Universidade Federal Rural do Semi-Árido, 2016. http://bdtd.ufersa.edu.br:80/tede/handle/tede/620.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
Powdery mildew is a disease that causes substantial losses in melon production around the world. Obtaining resistant cultivars is possible through introgression of alleles in the breeding program. In this study, it was investigated the inheritance of resistance of AC-02 accession to races 1 and 5 of Podosphaera xanthii in cross with susceptible cultivar ‘Védrantais’, under greenhouses conditions. The segregations ratios for resistance/susceptibility observed in the different populations (F1, F2, RC1 and RC2) indicated a monogenic and dominant inheritance in AC-02 to races 1 and 5. The distance between the gene controlling resistance to race 1 (px1-ac02) and the gene which confers resistance race 5 (px5-ac02) is 28.5 cM.
oídio é uma doença que causa perdas significativas na produção de melão em todo o mundo. A obtenção de cultivares resistentes é feita mediante introgressão de alelos de resistência. Neste estudo, investigou-se a herança da resistência do acesso AC-02 às raças 1 e 5 de Podosphaera xanthii por meio de cruzamento com a cultivar suscetível ‘Védrantais’, sob condições de casa de vegetação. As razões de segregações de resistência/suscetibilidade observadas nas diferentes populações (F1, F2, RC1 e RC2) indicaram que a herança da resistência do AC-02 às raças 1 e 5 é controlada, cada uma por um gene composto por dois alelos, de modo que o alelo que confere resistência domina o alelo para suscetibilidade. A distância entre o gene que controla a resistência à raça 1 (px1-ac02) e o gene que confere resistência à raça 5 (px5-ac02) é 28,5 cM.
2016-11-23
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48

Nevils, Melissa A. "An analysis of factors related to virulence in babesia bovis /." free to MU campus, to others for purchase, 2001. http://wwwlib.umi.com/cr/mo/fullcit?p3025642.

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49

CASTI, ALBERTO. "Ruolo del trasportatore della serotonina in topi ipomorfici per il gene monoamino ossidasi A (MAO A): studio comportamentale e immunoistochimico." Doctoral thesis, Università degli Studi di Cagliari, 2011. http://hdl.handle.net/11584/265911.

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50

Robinson-Smith, Ruth A. "Interactions of MHC class I molecules with peptide ligands and [beta]₂-microglobulin." free to MU campus, to others for purchase, 1996. http://wwwlib.umi.com/cr/mo/fullcit?p9821331.

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