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Rare variants affecting the Fanconi Anemia/homologous recombination DNA repair gene network confer increased risk for AML and are associated with abnormal karyotype

ABSTRACT: This study was to compare gene expression profiles of human AMLs that either carry or lack potentially deleterious variants in genes of the Fanconi Anemia-Homologous Recombination DNA repair network” . Variants were identified by whole exome sequencing of the relevant genes.

ORGANISM(S): Homo sapiens

PROVIDER: GSE67936 | GEO | 2015/07/14

SECONDARY ACCESSION(S): PRJNA281248

REPOSITORIES: GEO

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Rare variants affecting the Fanconi Anemia/homologous recombination DNA repair gene network confer increased risk for AML and are associated with abnormal karyotype

Project description:This study was to compare gene expression profiles of human AMLs that either carry or lack potentially deleterious variants in genes of the Fanconi Anemia-Homologous Recombination DNA repair network” . Variants were identified by whole exome sequencing of the relevant genes. In total, 145 AML Diagnosis Samples were arrayed with no duplicates. CD34+ cells were used as normal controls. CML and normal Mono-nuclear cells (MNC) samples were not used for analysis. Adelaide Samples were sourced from the South Australian Cancer Research Biobank, ALLG Samples were sourced from the Australian Leukaemia an Lymphoma Group

2015-07-14 | E-GEOD-67936 | biostudies-arrayexpress

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2010-06-24 | E-GEOD-17233 | biostudies-arrayexpress

Restored Hematopoietic Stem Cell Transcriptional Program in Fanconi Anemia Patients Following Gene Therapy

Project description:The effect of gene therapy in the Hematopoietic stem cells of patients with fanconi anemia has been analyzed. For this purpose 3 fanconi patients bone marrow and a healthy one has been aspirated and CD34+ cells sorted. The data was processed using the usual 10X protocol

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Expression data from normal and Fanconi anemia low density bone marrow cells

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Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair.

Project description:Fanconi anemia (FA) is a recessive disorder characterized by congenital abnormalities, progressive bone-marrow failure, and cancer susceptibility. Cells from FA patients are hypersensitive to agents that produce DNA crosslinks and, after treatment with these agents, have pronounced chromosome breakage and other cytogenetic abnormalities. Eight FANC genes have been cloned, and the encoded proteins interact in a common cellular pathway. DNA-damaging agents activate the monoubiquitination of FANCD2, resulting in its targeting to nuclear foci that also contain BRCA1 and BRCA2/FANCD1, proteins involved in homology-directed DNA repair. Given the interaction of the FANC proteins with BRCA1 and BRCA2, we tested whether cells from FA patients (groups A, G, and D2) and mouse Fanca-/- cells with a targeted mutation are impaired for this repair pathway. We find that both the upstream (FANCA and FANCG) and downstream (FANCD2) FA pathway components promote homology-directed repair of chromosomal double-strand breaks (DSBs). The FANCD2 monoubiquitination site is critical for normal levels of repair, whereas the ATM phosphorylation site is not. The defect in these cells, however, is mild, differentiating them from BRCA1 and BRCA2 mutant cells. Surprisingly, we provide evidence that these proteins, like BRCA1 but unlike BRCA2, promote a second DSB repair pathway involving homology, i.e., single-strand annealing. These results suggest an early role for the FANC proteins in homologous DSB repair pathway choice.

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