Mitochondrial ribosomal proteins: Candidate genes for mitochondrial disease

Sylvester, James E.; Fischel‐Ghodsian, Nathan; Mougey, Edward B.; O’Brien, Thomas W.

doi:10.1097/01.gim.0000117333.21213.17

Cited by 97 publications

(79 citation statements)

References 62 publications

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“…MRPs are required for the translation of all 13 mitochondria genes. Proteins which are essential for mitochondrial ribosome formation are candidates for involvement in human genetic disease [O'Brien, 2002;Sylvester et al, 2004]. Ribosomal proteins have shown to precipitate in controlling protein biosynthesis and ribosome biogenesis, and the MRPs are directly involved in this process.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial ribosomal protein S36 delays cell cycle progression in association with p53 modification and p21^WAF1/CIP1 expression

Chen

Chang

Shiau

et al. 2006

J of Cellular Biochemistry

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Ribosomal biogenesis is correlated with cell cycle, cell proliferation, cell growth and tumorigenesis. Some oncogenes and tumor suppressors are involved in regulating the formation of mature ribosome and affecting the ribosomal biogenesis. In previous studies, the mitochondrial ribosomal protein L41 was reported to be involved in cell proliferation regulating through p21(WAF1/CIP1) and p53 pathway. In this report, we have identified a mitochondrial ribosomal protein S36 (mMRPS36), which is localized in the mitochondria, and demonstrated that overexpression of mMRPS36 in cells retards the cell proliferation and delays cell cycle progression. In addition, the mMRPS36 overexpression induces p21(WAF1/CIP1) expression, and regulates the expression and phosphorylation of p53. Our result also indicate that overexpression of mMRPS36 affects the mitochondrial function. These results suggest that mMRPS36 plays an important role in mitochondrial ribosomal biogenesis, which may cause nucleolar stress, thereby leading to cell cycle delay.

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Section: Discussionmentioning

confidence: 99%

Mitochondrial ribosomal protein S36 delays cell cycle progression in association with p53 modification and p21^WAF1/CIP1 expression

Chen

Chang

Shiau

et al. 2006

J of Cellular Biochemistry

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“…Metaphyseal dysplasia has not been reported in DBA. There is marked inter-and intra-familial variability [Sylvester et al, 2004]. About 25% of DBA is due to mutations in the ribosomal protein S19 gene (RPS19) [Draptchinskaia et al, 1999].…”

Section: Discussionmentioning

confidence: 99%

The natural history of severe anemia in cartilage-hair hypoplasia

et al. 2005

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Anemia is seen in over 80% of patients with cartilage-hair hypoplasia (CHH). While this is usually mild and self-limited, some patients demonstrate a severe, persistent anemia resembling that seen in Diamond-Blackfan anemia (DBA). This paper examines the natural history of 12 patients with CHH and severe anemia. Phenotypic features and mutation data (where available) were reviewed, but no significant differences were found that predicted severe anemia. Severe anemia is estimated to occur in approximately 6% of CHH patients and is permanent in more than half of these patients. Thrombocytosis, though not previously reported in CHH, was noted in five patients, similar to that seen in DBA. The role of possible gene-gene and gene-environment interactions is discussed.

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“…Mitochondrial ribosome defects have also been linked to inherited human diseases (reviewed in Ref. 36). …”

Section: Genetics and Human Diseasementioning

confidence: 99%

The Eukaryotic Ribosome: Current Status and Challenges

Dinman

2009

Journal of Biological Chemistry

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Despite having been identified first, their greater degree of complexity has resulted in our understanding of eukaryotic ribosomes lagging behind that of their bacterial and archaeal counterparts. A much more complicated biogenesis program results in ribosomes that are structurally, biochemically, and functionally more complex. However, recent advances in molecular genetics and structural biology are helping to reveal the intricacies of the eukaryotic ribosome and to address many longstanding questions regarding its many roles in the regulation of gene expression.Since its initial discovery using differential ultracentrifugation of rat liver homogenates (reviewed in Ref. 1), the ribosome has remained a foundational platform upon which our understanding of the relationship between structure and function at the molecular level has been built. There is a rich history of biochemistry and genetics of eukaryotic ribosomes, including the discovery in the 1950s that they 32 are the site of protein synthesis, the elucidation of the function of the nucleolus, and even the discovery of the first eukaryotic RNA polymerase (reviewed in Ref. 2). Whereas early studies using mammalian ribosomes defined the "integral requirements" for protein synthesis, a switch to bacterial ribosomes in the 1960s facilitated the identification of the "minimal requirements" for the translational machinery, giving rise to a "golden age" of translation. In particular, the greater degree of structural and functional complexity makes eukaryotic ribosomes more challenging to work with than their bacterial and archaeal counterparts. For example, whereas bacterial translation initiation requires only a small set of trans-acting factors and is facilitated by the ShineDalgarno sequence, this process in eukaryotes requires a multifactorial complex of trans-acting factors that is almost as massive as the ribosome itself (reviewed in Ref. 3). Here, some of the current topics and challenges in the study of the eukaryotic ribosome are reviewed.

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Mitochondrial ribosomal proteins: Candidate genes for mitochondrial disease

Cited by 97 publications

References 62 publications

Mitochondrial ribosomal protein S36 delays cell cycle progression in association with p53 modification and p21^WAF1/CIP1 expression

Mitochondrial ribosomal protein S36 delays cell cycle progression in association with p53 modification and p21^WAF1/CIP1 expression

The natural history of severe anemia in cartilage-hair hypoplasia

The Eukaryotic Ribosome: Current Status and Challenges

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Mitochondrial ribosomal proteins: Candidate genes for mitochondrial disease

Cited by 97 publications

References 62 publications

Mitochondrial ribosomal protein S36 delays cell cycle progression in association with p53 modification and p21WAF1/CIP1 expression

Mitochondrial ribosomal protein S36 delays cell cycle progression in association with p53 modification and p21WAF1/CIP1 expression

The natural history of severe anemia in cartilage-hair hypoplasia

The Eukaryotic Ribosome: Current Status and Challenges

Contact Info

Product

Resources

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Mitochondrial ribosomal protein S36 delays cell cycle progression in association with p53 modification and p21^WAF1/CIP1 expression

Mitochondrial ribosomal protein S36 delays cell cycle progression in association with p53 modification and p21^WAF1/CIP1 expression