ribosomal proteins

Pathology: ribosomale protein anomalies

Mutations in ribosomal proteins or associated genes lead to disrupted ribosomal biogenesis and/or function.

 gernline mutations of ribosomal proteins in Blackfan-Diamond anemia

• Ch.19: mutations in the gene encoding ribosomal protein S19 (RPS19) (MIM.603474) on chromosome 19
• 10q22-q23: germline mutations in ribosomal protein S24 gene (RPS24)
• Blackfan-Diamond anemia is a disorder of ribosome synthesis.

 mitochondrial traduction anomalies

References

 Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2006 Dec;79(6):1110-8. PMID: 17186470