The genetic disorder known as Fanconi anemia (FANC) is a heterogeneous, autosomal-recessive cancer susceptibility condition characterized by a wide array of symptoms. These include congenital malformations, progressive bone marrow failure, DNA-damage hypersensitivity, and genome instability. The protein FANCD2 is a subunit of the protein complex involved in cellular resistance to DNA cross-linking and DNA synthesis arrest triggered by ionizing radiation (IR). The FANCD2 antibody was used in immunoblotting and immunoprecipitation experiments to better understand how processes such as oxidative stress and damage trigger the formation of a multimeric FANC complex within the nucleus1.
Western Blot: FANCD2 Antibody
Studies from Harvard focused on DNA damage response pathway defects in breast cancer employed the FANCD2 antibody2. This group established and validated a new ex vivo foci biomarker assay approach that could detect both pre-existing and functionally important FA/BRCA pathway defects. This assay would allow customization of future cancer therapies to individual tumor DNA repair profiles. The FANCD2 antibody was also used by Danish researchers in their provocative chromatin spatial co-localization studies aimed at surveying genome regulators (repair factors such as Rad and BRCA1) and their accumulation within the chromatin microenvironment3. Kim et al published in Nature Genetics their findings using the FANCD2 antibody to analyze SLX4 mutations in FANC where they found that biallelic mutations define a new subtype of FANC, known as Fanconi anemia-P4. Recent studies from Nalepa’s group were able to systematically evaluate the role of FANC proteins in spindle assembly checkpoints5. With the FANCD2 antibody, they were able to demonstrate an essential role for the FA pathway in mitosis and high-fidelity chromosome segregation.
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