My study led to the identification of TMCC2 as novel player in the process of erythropoiesis. To conclude:
• Prior to this thesis, Tmcc2 knockout mice have not been described in the literature.
• There are no apparent defects in the Tmcc2-/- inner ear hair cells.
• The phenotype of severe neonatal congenital dyserythropoietic anemia with features of CDA type 2, 3, and 4 is fully penetrant.
• Abundant nucleated erythroid cells and rare giant multinucleated nRBCs are present in the blood of Tmcc2-/- pups.
• Perforation of the nuclear membrane and invasion of ribosomes and cytoplasm into the nucleus are the most prominent ultrastructural defects of Tmcc2-/- nRBCs.
• Despite the moderately increased RBC count, maturation of the erythropoietic precursors is severely hampered in the adult bone marrow as well as in the spleen.
• The Tmcc2-/- line constitutes a valuable system for studying erythropoiesis and the mechanism of enucleation.
• Currently unknown TMCC2 mutations should be considered and tested for in patients who suffer from CDA of unexplained etiology.
91
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