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Identification of novel target genes involved in Indian Fanconi anemia patients using microarray
Prasanna Vidyasekar,
Published in
2013
PMID: 24036430
Volume: 531
   
Issue: 2
Pages: 444 - 450
Abstract
Fanconi anemia (FA) is a genetic disorder characterized by progressive bone marrow failure and a predisposition to cancers. Mutations have been documented in 15 FA genes that participate in the FA-BRCA DNA repair pathway, a fundamental pathway in the development of the disease and the presentation of its characteristic symptoms. Certain symptoms such as oxygen sensitivity, hematological abnormalities and impaired immunity suggest that FA proteins could participate in or independently control other pathways as well. In this study, we identified 9 DNA repair genes that were down regulated in a genome wide analysis of 6 Indian Fanconi anemia patients. Functional clustering of a total of 233 dysregulated genes identified key biological processes that included regulation of transcription, DNA repair, cell cycle and chromosomal organization. Microarray data revealed the down regulation of ATXN3, ARID4A and ETS-1, which were validated by RTPCR in a subsequent sample set of 9 Indian FA patients. Here we report for the first time a gene expression profile of Fanconi anemia patients from the Indian population and a pool of genes that might aid in the acquisition and progression of the FA phenotype. © 2013 Elsevier B.V.
About the journal
JournalGene
ISSN03781119
Open AccessNo
Concepts (78)
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    ATXN 3 PROTEIN
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    DNA
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    Membrane protein
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    RETINOBLASTOMA BINDING PROTEIN 1
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    TRANSCRIPTION FACTOR ETS 1
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    Unclassified drug
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    Article
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    CELL ACTIVATION
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    Cell cycle
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    Chromosome structure
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    Citric acid cycle
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    Clinical article
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    Controlled study
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    Dna microarray
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    Dna repair
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    Down regulation
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    FANCONI ANEMIA
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    Gene amplification
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    Gene cluster
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    Gene expression
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    GENE IDENTIFICATION
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    Genetic analysis
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    Human
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    Indian
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    INTRACELLULAR TRANSPORT
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    Membrane structure
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    Microarray analysis
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    Phenotype
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    Priority journal
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    Protein transport
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    Real time polymerase chain reaction
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    Reverse transcription polymerase chain reaction
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    Rna isolation
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    Transcription regulation
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    ACUTE MYELOID LEUKEMIA
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    AML
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    ARID4A
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    AT RICH INTERACTIVE DOMAIN 4A (RBP1-LIKE)
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    ATAXIN-3
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    ATXN3
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    BM
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    BONE MARROW
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    CHRONIC MYELOMONOCYTIC LEUKEMIA
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    CMML
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    DEB
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    DIEPOXYBUTANE
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    ETS1
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    FA
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    FANCONI ANEMIA
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    HEAD AND NECK SQUAMOUS CELL CARCINOMA
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    HEMATOLOGICAL ABNORMALITIES
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    HNSCC
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    ICL
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    IMPAIRED IMMUNITY
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    INTERSTRAND CROSSLINKS
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    Microarray
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    MITOMYCIN C
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    MMC
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    NATURAL KILLER
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    NK
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    OXYGEN SENSITIVITY
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    Reactive oxygen species
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    ROS
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    SOD
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    Superoxide dismutase
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    V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1
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    Case-control studies
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    DNA MUTATIONAL ANALYSIS
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    European continental ancestry group
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    FANCONI ANEMIA
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    FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS
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    Female
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    Gene expression profiling
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    Gene ontology
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    Humans
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    India
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    Male
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    VALIDATION STUDIES AS TOPIC