Journal of Blood Disorders & Transfusion

Developmental proteins in Fanconi anemia

3^rd International Conference on Hematology & Blood Disorders

November 02-04, 2015 Atlanta, USA

Aysen Gunel-Ozcan

Hacettepe University, Turkey

Posters-Accepted Abstracts: J Blood Disord Transfus

Abstract:

Fanconi anemia (FA) is an inherited genome instable disease which has a heterogenous phenotype including aplastic anemia, a range of developmental malformations and a probensity to malignancies. Aplastic anemia due to bone marrow failure is frequent during childhood and there is a high predisposition for myelodysplasia (MDS), acute myeloid leukemia (AML) and solid organ cancers such as head and neck tumors. Developmental malformations in FA patients include short stature, radial ray anomalies, scoliosis, aberrant skin pigmentation, abnormal development kidney and urinary tract development. The responsible genetic defect is in one of the sixteen FANC genes encoding the proteins in FA/BRCA pathway which resolve DNA interstrand crosslinks (ICLs). FANC/BRCA pathway functions in cells including stabilization of replication forks, maintenance of stem cells, suppressing error prone repair and tumorigenesis. FA cells treated with ICLs agents show an increase in G2/M phase of cell cycle. The current knowledge regarding ICLs repair defect in FA cannot explain the bone marrow failure and malformations of patients. Early hematopoietic dysfunction coincides with skeletal and kidney malformations in FA patients suggest the possibility of FA protein interaction with developmental proteins. Previously published FANCD2i and FANCAi knockdown study and immunoprecipitation study with FANCC gave evidence for these interactions and other roles of FANC proteins. Our recent study seeking gene expression signature of homeodomain transcription factors HOX and their cofactors TALE in Fanconi anemia mesenchymal stromal/stem cells, also designates possible new interactors.

Biography :

Email: agozcan@hacettepe.edu.tr