Fanconi anemia (FANC) is a rare, autosomal-recessive genetic disorder that is a heterogeneous cancer susceptibility condition that manifests with a wide range of symptoms such as congenital malformations, deteriorating bone marrow failure, DNA-damage hypersensitivity, genomic instability, and increased cancer incidence. FANCD2 is a component within the protein complex that is involved in a cell's resistance to DNA cross-linking and subsequent DNA synthesis arrest that is stimulated by the insult of ionizing radiation (IR).
Western Blot: FANCD2 Antibody [NB100-182] - FANCD2 in HeLa WCE using NB 100-182 (lot C).
Immunoblotting and immunoprecipitation assays with the FANCD2 antibody allowed Park’s group to determine how processes such as oxidative stress and damage trigger the formation of a multimeric nuclear-localized FANC complex via intermolecular disulfide linkages (1). Studies from Harvard Medical School examined DNA damage response pathway BRCA1 defects in breast cancer biopsy samples (2). They used the FANCD2 antibody to help establish and validate a novel ex vivo foci biomarker assay for detecting pre-existing and functionally important defects that will allow therapies to be customized to individual tumor DNA repair profiles. Stoepker's group reported in Nature Genetics a unique cohort of the first human individuals with biallelic SLX4 mutations (3). A companion SLX4 paper in the same issue of Nature Genetics from a different group at the Rockefeller University also used the same FANCD2 antibody to analyze SLX4 mutations and also identified individuals with similar biallelic mutations, helping to independently validate this new subtype of FANC phenotype (4). Recently, a study from Huard et al in Quebec evaluated the role of Fanconi anemia (FA) proteins in the molecular events governing overall cellular homeostasis (5). With the FANCD2 antibody, these researchers found that defective FA signaling increases hematopoietic malignancy via transcriptional upregulation of inhibitory regulators such as Dickkopf-1 (DKK1).
PMIDs
