Disease relevance of Rps19

• Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia [1].

High impact information on Rps19

• We produced C57BL/6J mice with a targeted disruption of murine Rps19 to study its role in erythropoiesis and development [2].
• Our findings indicate that zygotes which are Rps19(-/-) do not form blastocysts, whereas one normal Rps19 allele in C57BL/6J mice is sufficient to maintain normal ribosomal and possibly extraribosomal functions [2].
• In contrast, mice heterozygous for the disrupted Rps19 allele have normal growth and organ development, including that of the hematopoietic system [2].
• The gene encoding ribosomal protein S19 (RPS19) is mutated in approximately 25% of patients with Diamond-Blackfan anemia (DBA), which is a rare congenital erythroblastopenia [3].
• To investigate a possible role for RPS19 in erythropoiesis, we looked for proteins associated with mouse RPS19 using a yeast two-hybrid system and identified a novel protein, which we named S19 binding protein (S19BP) [3].

Anatomical context of Rps19

• Mice homozygous for the disrupted Rps19 were not identified as early as the blastocyst stage, indicating a lethal effect [2].

Other interactions of Rps19

• We estimated the Rps19 levels in hematopoietic tissues and we analyzed erythrocyte deaminase activity and globin isoforms which are used as markers for DBA [1].

References