Ribosomal protein S19 - 631 insertion is an African-originated mutation
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چکیده
منابع مشابه
Ribosomal protein S19 - 631 insertion is an African-originated mutation.
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. RPS19 gene encodes a ribosomal protein (RP) that is a component of the 40S subunit. The protein belongs to the S19E family of RPs. It is located in the cytoplasm. Mutations in this gene cause DiamondBlackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent ...
متن کاملRibosomal protein S19 expression during erythroid differentiation.
The gene encoding ribosomal protein S19 (RPS19) has been shown to be mutated in 25% of the patients affected by Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia. As the role of RPS19 in erythropoiesis is still to be defined, we performed studies on RPS19 expression during terminal erythroid differentiation. Comparative analysis of the genomic sequences of human and mouse RPS19 gen...
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RPS19 (ribosomal protein S19), a component of the 40S small ribosomal subunit, has recently been identified to bind the pro-inflammatory cytokine macrophage MIF (migration inhibitory factor). In vitro experiments identify RPS19 as the first endogenous MIF inhibitor by blocking the binding of MIF to its receptor CD74 and MIF functions on monocyte adherence to endothelial cells. In the present st...
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The gene encoding ribosomal protein S19 (RPS19) has been shown to be mutated in 25% of the patients affected by DiamondBlackfan anemia (DBA), a congenital erythroblastopenia. As the role of RPS19 in erythropoiesis is still to be defined, we performed studies on RPS19 expression during terminal erythroid differentiation. Comparative analysis of the genomic sequences of human and mouse RPS19 gene...
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Ribosomal protein S19 (RPS19) is a 16-kDa protein found mainly as a component of the ribosomal 40 S subunit. Its mutations are responsible for Diamond Blackfan anemia, a congenital disease characterized by defective erythroid progenitor maturation. Dysregulation of RPS19 has therefore been implicated in this defective erythropoiesis, although the link between them is still unclear. Two not mutu...
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ژورنال
عنوان ژورنال: Turkish Journal of Hematology
سال: 2010
ISSN: 1300-7777,1308-5263
DOI: 10.5152/tjh.2010.12