Publications by authors named "V Brancaleoni"
Metabolic requirements vary during development, and our understanding of how metabolic activity influences cell specialization is incomplete. Here, we describe a switch from glutamine catabolism to synthesis required for erythroid cell maturation. Glutamine synthetase (GS), one of the oldest functioning genes in evolution, is activated during erythroid maturation to detoxify ammonium generated from heme biosynthesis, which is up-regulated to support hemoglobin production.
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- The study focuses on RNA polymerase II (RNA Pol II) pausing, which is important for gene regulation but difficult to study due to the essential nature of pause-release factors.
- Researchers found mutations in the SUPT5H gene linked to β-thalassemia that disrupt RNA Pol II's pause release during the transition from progenitor to precursor cells in erythropoiesis (red blood cell formation).
- These mutations led to delayed differentiation and altered gene expression in erythroid cells, highlighting RNA Pol II pausing's role in coordinating cell cycle progression and differentiation in blood cell development.
Article Synopsis
- The study investigates the role of paused RNA polymerase II (Pol II) in gene regulation, particularly in the context of β-thalassemia and its effects on erythropoiesis (red blood cell formation).
- Researchers found mutations in the SPT5 gene that disrupt the proper release of paused Pol II, leading to delays in the transition from progenitor to precursor cells in healthy human cells.
- Despite these delays in gene expression and the cell cycle during differentiation, the cells eventually reach terminal differentiation, indicating that Pol II pausing plays a critical role in synchronizing the processes of proliferation and differentiation.
Mutations in the ferroportin (FPN) gene SLC40A1 alter iron recycling and cause disturbances in iron homeostasis. The variants of TMPRSS6 contribute to the development of iron deficiencies. In this study, we determined the role of FPN and TMPRSS6 gene polymorphisms in the modulation of iron homeostasis based on biochemical parameters.
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