Estudis genètics i funcionals de la síndrome de reparació d'Anèmia de Fanconi

  • Surralles Calonge, Jordi (Principal Investigator)
  • Castella Castella, Maria (Scholar)
  • Cabré Fabré, Oriol (Investigator)
  • Lyakhovich , Alex (Investigator)
  • Minguillon Pedreño, Jordi (Investigator)
  • Ramirez de Haro, Maria Jose (Investigator)
  • Umbert Maestre, Maria Glòria (Investigator)

Project Details


Fanconi anemia (FA) ia a rare genetic disease characterized by bone marrow failura, congenital abnormalities, hypersensitiy to DNA cross-linking drugs, and cancer predisposition. At least 12 genes are involved in this syndrome, and all their products participate in a complex genome stability and tumour suppressor pathway, the so called FA/BRCA pathway. The genetics ans molecular iology of this pathway are poorly. In this project ww will continue our previously founded FIS 2002 project on the genetics and molecular biology of FA with three major multidisciplanayr and interlinked goals, improve our knowledge of the molecular biology and functions of the FA7BRCA pathay, discover new FA proteins and new FA proteins partnes and explore the FA/CA pathway as a new target in cancer therapy. More specifically we want to (i) discover the disease gene in a series of FA patients where we have disregarded all currently known FA genes ; (ii) dissect the proteomics of FA and of stalled replication forks by pulling down all the partners of FANCD2 and differential proteomics, (iii) prove that the FA/BRCA pathway acts as a negative regulator of telomere length, (iv) investigate the role of the Fa/BRCA pathway in centrosome stability and (v) interfere the expression of FA proteins to chemosensitize tumor cells to DNA cross-linking based therapy, To reach these goals, advanced technologies will be employed including genomics (whole genome and chromosome specific microarray CGH and SNP-microarrays), differential proteomics (2-D gels, DIGE and mass spectrometry) analysis of fluorescent-tagged FA proteins in living cells by confocal microscopy and gene knock-down by RNA interference. All the experiments will be done with cells lines and samples currently available in the UAB-Biobank on DNA Repair Syndromes
Effective start/end date18/10/0630/03/10


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