Transcription profiling of human fibroblasts from patients with Diamond-Blackfan Anemia (DBA) and healthy controls

ABSTRACT: Diamond-Blackfan Anemia (DBA) is a rare inherited red cell hypoplasia characterized by a defect in the maturation of erythroid progenitors and is in some cases associated to malformations. Patients have an increased risk of solid tumors. Mutations have been found in several ribosomal protein (RP) genes. Studies in hematopoietic progenitors from patients show that the haploinsufficiency of an RP impairs rRNA processing and ribosome biogenesis. DBA lymphocytes and fibroblasts show reduced protein synthesis, and the latter display abnormal rRNA processing and impaired proliferation. To evaluate the involvement of non-hematopoietic tissues in DBA, we have analyzed global gene expression in fibroblasts from DBA patients compared to healthy controls. Microarray expression profiling using Affyme

ORGANISM(S): Homo sapiens

SUBMITTER: Paola Roncaglia 

PROVIDER: E-GEOD-14335 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress