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Análise Cromossômica por Microarranjo aplicada ao Diagnóstico das Síndromes Genômicas que envolvem a região 22q11.2.Cunha, Ana Julia da 14 March 2016 (has links)
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Previous issue date: 2016-03-14 / The chromosome 22q11.2 region has long been implicated in genomic diseases. Some
genomic regions exhibit numerous low copy repeat with high identity in which provide
increased genomic instability and mediate deletions and duplications in many disorders.
DiGeorge Syndrome is the most common deletion syndrome and reciprocal duplications
could be occurring in a half of the frequency of microdeletions. We described five patients
with phenotypic variability that carries deletions or reciprocal duplications at 22q11.2
detected by Chromosomal Microarray Analysis. The CytoScan HD technology was used to
detect changes in the genome copy number variation of patients who had clinical indication to
global development delay and a normal karyotype. We observed in our study three
microdeletions and two microduplications in 22q11.2 region with variable intervals contained
known genes and unstudied transcripts as well as the LCRs that are often flanking and within
this genomic rearrangement. The identification of these variant are of particular interest due to
it may provide insight in genes or genomic regions there are crucial for specific phenotypic
manifestations and are useful to assist the quest for understanding the mechanisms subjacent
to genomic deletions and duplications. / A região do cromossoma 22q11.2 tem sido implicada em doenças genômicas. Algumas
regiões genômicas exibem numerosas regiões de repetições de pequeno número de cópias que
proporcionam o aumento da instabilidade genômica e mediam deleções e duplicações em
muitas desordens. A Síndrome de DiGeorge é a síndrome de deleção mais comum e as
duplicações recíprocas ocorrem na metade da frequência das microdeleções. Nós descrevemos
cinco pacientes com variabilidade fenotípica que possuem deleções ou duplicações recíprocas
em 22q11.2 detectados pela Análise Cromossômica por Microarray. A tecnologia CytoScan
HD foi usada para detectar alterações da variação do número de cópias no genoma de
pacientes que tiveram indicação clínica de atraso global no desenvolvimento com cariótipo
normal. Observamos no nosso estudo três microdeleções e duas microduplicações na região
22q11.2 com intervalos variáveis onde contém genes conhecidos e transcrições não
estudadas, tais como as LCRS que muitas vezes flanqueiam estes rearranjos genômicos. A
identificação destas variantes são de particular interesse para fornecer uma visão dos genes ou
das regiões genômicas que são cruciais para as manifestações fenotípicas específicas e são
úteis para auxiliar na busca pela compreensão dos mecanismos subjacentes à deleções e
duplicações genômicas.
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Validation of de novo Bioinformatic Predictions of Arabidopsis thaliana Cis-regulatory Elements using in planta GUS Expression AssaysHiu, Shuxian 19 July 2012 (has links)
The study of cis-regulatory elements (CREs) will allow for increased understanding of regulation and lead to insight regarding the mechanisms governing growth, development, health, and disease. The aim of this study was to characterize the de novo in silico predictions of Arabidopsis CREs. Eight synthetic and 30 native promoter-constructs containing an eGFP/GUS reporter protein were generated for cold, genotoxic, heat, osmotic, and salt stress; the circadian clock; ABA signaling; root and epidermis tissue. Constructs were stably transformed into A. thaliana Col-0 and the effects of the CREs were evaluated by in planta stress or tissue assays using GUS expression levels. Results reveal a novel genotoxic element that specifically directs GUS expression in rosette leaves during genotoxic stress. Results also look promising for novel epidermis and root-specific elements. Results of these assays validate the de novo prediction pipeline's ability to identify novel and known CREs related to abiotic stress.
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Validation of de novo Bioinformatic Predictions of Arabidopsis thaliana Cis-regulatory Elements using in planta GUS Expression AssaysHiu, Shuxian 19 July 2012 (has links)
The study of cis-regulatory elements (CREs) will allow for increased understanding of regulation and lead to insight regarding the mechanisms governing growth, development, health, and disease. The aim of this study was to characterize the de novo in silico predictions of Arabidopsis CREs. Eight synthetic and 30 native promoter-constructs containing an eGFP/GUS reporter protein were generated for cold, genotoxic, heat, osmotic, and salt stress; the circadian clock; ABA signaling; root and epidermis tissue. Constructs were stably transformed into A. thaliana Col-0 and the effects of the CREs were evaluated by in planta stress or tissue assays using GUS expression levels. Results reveal a novel genotoxic element that specifically directs GUS expression in rosette leaves during genotoxic stress. Results also look promising for novel epidermis and root-specific elements. Results of these assays validate the de novo prediction pipeline's ability to identify novel and known CREs related to abiotic stress.
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