ABSTRACT:

5q deletion syndrome is a subtype of myelodysplastic syndrome (MDS) characterized by macrocytic anemia and impaired erythropoiesis due to the deletion of genes on chromosome 5q. RPS14, a dosage-sensitive regulator of ribosome biogenesis within this region, plays a central role in disease pathogenesis. Reduced RPS14 expression activates p53-mediated ribosomal stress and disrupts erythroid maturation. Because ribosome biogenesis and red blood cell production are metabolically demanding processes requiring adequate micronutrients, particularly iron for hemoglobin synthesis, ribosomal insufficiency may increase susceptibility to metabolic stress. This study integrates PCR-based molecular analysis, genomic annotation, tissue-wide transcriptomic profiling, pathway analysis, and disease-associated datasets to examine RPS14 expression across physiological and hematopoietic contexts. RPS14 is ubiquitously expressed but tightly regulated, with prominent expression in hematopoietic tissues. These findings support a model in which 5q deletion syndrome reflects tissue-specific vulnerability to reduced ribosomal capacity, potentially amplified by micronutrient-dependent erythropoiesis.

Keywords: RPS14, 5q deletion syndrome, myelodysplastic syndrome, ribosome biogenesis

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