title: Identification of novel target genes involved in Indian Fanconi anemia patients using microarray.
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.
authors.affiliation: Stem cell and Molecular Biology Laboratory, Department of Biotechnology, Indian Institute of Technology Madras, Chennai 600 036, India.
authors.forename: Pavithra
authors.initials: P
authors.lastname: Shyamsunder
authors.forename: Kripa S
authors.initials: KS
authors.lastname: Ganesh
authors.forename: Prasanna
authors.initials: P
authors.lastname: Vidyasekar
authors.forename: Sheila
authors.initials: S
authors.lastname: Mohan
authors.forename: Rama Shanker
authors.initials: RS
authors.lastname: Verma
mesh_terms: D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005199:Fanconi Anemia / Q000453:epidemiology / Q000208:ethnology* / Q000235:genetics*; D051856:Fanconi Anemia Complementation Group Proteins / Q000235:genetics* / Q000302:isolation & purification; D005260:Female; D020869:Gene Expression Profiling; D063990:Gene Ontology; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D046228:Microarray Analysis; D054928:Validation Studies as Topic; D044465:White People / Q000235:genetics
chemical_list: D051856:Fanconi Anemia Complementation Group Proteins
keywords: AML; ARID4A; AT rich interactive domain 4A (RBP1-like); ATXN3; Acute myeloid leukemia; Ataxin-3; BM; Bone marrow; CMML; Chronic myelomonocytic leukemia; DEB; Diepoxybutane; ETS1; FA; Fanconi anemia; HNSCC; Head and neck squamous cell carcinoma; Hematological abnormalities; ICL; Impaired immunity; Interstrand crosslinks; MMC; Microarray; Mitomycin C; NK; Natural killer; Oxygen sensitivity; ROS; Reactive oxygen species; SOD; Superoxide dismutase; v-ets avian erythroblastosis virus E26 oncogene homolog 1