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Identifier 000412527
Title Implication of GATA1 and GATA 1 short in ribosomal protein gene regulation in erythroid cells
Alternative Title Εμπλοκή του GATA 1 και GATA 1 short στην ρύθμιση της έκφρασης των ριβοσωμικών γονιδίων στα ερυθροειδικά κύτταρα
Author Βατικιώτη, Αλεξάνδρα Κ.
Thesis advisor Στρουμπούλης, Γιάννης
Reviewer Ποντικόγλου, Χαράλαμπος
Γαρίνης, Γιώργος
Abstract Diamond Blackfan anemia (DBA) belongs to inherited myelodeficiency syndromes. DBA is a rare ribosomal disorder characterized by macrocytic anemia, reticulopenia and selective reduction or absence of erythroid precursor cells in an otherwise normocellular bone marrow. In 60-70% of cases mutations are detected in genes encoding ribosomal proteins. Recent work has shown that mutations in ribosomal genes can lead to insufficient translation of the full-length isoform of GATA-1, which is a major transcriptional factor in red cell differentiation. This results in the expression of the GATA-1 short isoform (GATA-1 short) which lacks the N-terminal domain and which is unable to support the final erythroid differentiation program. Recent work in the laboratory of Molecular Hematopoiesis at IMBB has shown that GATA-1 binds to many ribosomal protein genes, including many mutated in DBA. Taking into account the above, a feedback loop model is proposed in which GATA-1 binds to the ribosomal genes and regulates their expression to activate or maintain its own expression in erythroid cells. The aim of this thesis is to provide preliminary evidence for GATA-1 regulating the expression of ribosomal protein genes in erythroid cells.
Language English
Issue date 2017-11-22
Collection   School/Department--School of Sciences and Engineering--Department of Biology--Post-graduate theses
  Type of Work--Post-graduate theses
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