Ribosomopathies: mechanisms of disease

doi:10.4137/CMBD.S16952

Review

. 2014 Aug 14:7:7-16.

doi: 10.4137/CMBD.S16952. eCollection 2014.

Ribosomopathies: mechanisms of disease

Hani Nakhoul¹, Jiangwei Ke², Xiang Zhou¹, Wenjuan Liao¹, Shelya X Zeng¹, Hua Lu¹

Affiliations

¹ Department of Biochemistry and Molecular Biology and Cancer Center, Tulane University, School of Medicine, New Orleans, Louisiana, LA, USA.
² Department of Biochemistry and Molecular Biology and Cancer Center, Tulane University, School of Medicine, New Orleans, Louisiana, LA, USA. ; Department of Laboratory Medicine, Jiangxi Children's Hospital, Nanchang, Jiangxi, China.

PMID: 25512719
PMCID: PMC4251057
DOI: 10.4137/CMBD.S16952

Review

Ribosomopathies: mechanisms of disease

Hani Nakhoul et al. Clin Med Insights Blood Disord. 2014.

. 2014 Aug 14:7:7-16.

doi: 10.4137/CMBD.S16952. eCollection 2014.

Authors

Hani Nakhoul¹, Jiangwei Ke², Xiang Zhou¹, Wenjuan Liao¹, Shelya X Zeng¹, Hua Lu¹

Affiliations

¹ Department of Biochemistry and Molecular Biology and Cancer Center, Tulane University, School of Medicine, New Orleans, Louisiana, LA, USA.
² Department of Biochemistry and Molecular Biology and Cancer Center, Tulane University, School of Medicine, New Orleans, Louisiana, LA, USA. ; Department of Laboratory Medicine, Jiangxi Children's Hospital, Nanchang, Jiangxi, China.

PMID: 25512719
PMCID: PMC4251057
DOI: 10.4137/CMBD.S16952

Abstract

Ribosomopathies are diseases caused by alterations in the structure or function of ribosomal components. Progress in our understanding of the role of the ribosome in translational and transcriptional regulation has clarified the mechanisms of the ribosomopathies and the relationship between ribosomal dysfunction and other diseases, especially cancer. This review aims to discuss these topics with updated information.

Keywords: 5q-syndrome; Diamond-Blackfan anemia (DBA); Schwachman-Diamond syndrome (SDS); Treacher Collins syndrome (TCS); cartilage hair hypoplasia (CHH); dyskeratosis congenita (DC); p53; ribosomopathy.

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Figures

**Figure 1**
The role of p53 activation in the pathogenesis of certain ribosomopathies. Bars indicate inhibition.

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References

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[1] Robledo S, Idol RA, Crimmins DL, Ladenson JH, Mason PJ, Bessler M. The role of human ribosomal proteins in the maturation of rRNA and ribosome production. RNA. 2008;14:1918–1929. - PMC - PubMed

[2] Robledo S, Idol RA, Crimmins DL, Ladenson JH, Mason PJ, Bessler M. The role of human ribosomal proteins in the maturation of rRNA and ribosome production. RNA. 2008;14:1918–1929. - PMC - PubMed

[3] Melnikov S, Ben-Shem A, Garreau de Loubresse N, Jenner L, Yusupova G, Yusupov M. One core, two shells: bacterial and eukaryotic ribosomes. Nat Struct Mol Biol. 2012;19:560–567. - PubMed

[4] Melnikov S, Ben-Shem A, Garreau de Loubresse N, Jenner L, Yusupova G, Yusupov M. One core, two shells: bacterial and eukaryotic ribosomes. Nat Struct Mol Biol. 2012;19:560–567. - PubMed

[5] Aitken CE, Lorsch JR. A mechanistic overview of translation initiation in eukaryotes. Nat Struct Mol Biol. 2012;19:568–576. - PubMed

[6] Aitken CE, Lorsch JR. A mechanistic overview of translation initiation in eukaryotes. Nat Struct Mol Biol. 2012;19:568–576. - PubMed

[7] Sonenberg N, Hinnebusch AG. Regulation of translation initiation in eukaryotes: mechanisms and biological targets. Cell. 2009;136:731–745. - PMC - PubMed

[8] Sonenberg N, Hinnebusch AG. Regulation of translation initiation in eukaryotes: mechanisms and biological targets. Cell. 2009;136:731–745. - PMC - PubMed

[9] Pelletier J, Sonenberg N. Internal initiation of translation of eukaryotic mRNA directed by a sequence derived from poliovirus RNA. Nature. 1988;334:320–325. - PubMed

[10] Pelletier J, Sonenberg N. Internal initiation of translation of eukaryotic mRNA directed by a sequence derived from poliovirus RNA. Nature. 1988;334:320–325. - PubMed

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Ribosomopathies: mechanisms of disease

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Ribosomopathies: mechanisms of disease

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