Identification of novel target genes involved in Indian Fanconi anemia patients using microarray

• 233 dysregulated genes in Fanconi anemia samples from the Indian population
• Dysregulated genes were involved in transcription, DNA repair, and cell cycle.
• Downregulation of ATXN3, ARID4A and ETS-1 in Fanconi anemia
• Role of downregulated genes in the phenotypic manifestation of Fanconi anemia
• ATXN3 — Oxygen sensitivity, ARID4A — blood related disorders, ETS1 — impaired immunity

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.