The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Draptchinskaia, Natalia; Gustavsson, Peter; Andersson, Björn; Pettersson, M; Willig, Thiébaut-Noël; Dianzani, Irma; Ball, Sarah E.; Tchernia, Gil; Klar, Joakim; Matsson, Hans; Tentler, Dmitri; Mohandas, Narla; Carlsson, Birgit; Dahl, Niklas

doi:10.1038/5951

Cited by 727 publications

(596 citation statements)

References 39 publications

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“…These phenotypes resemble those of fruitfly Minute mutants, human Diamond-Blackfan anemia patients and the mouse Bst mutant, all of which bear mutations in ribosomal protein genes 18,20,21 . Compared with other model organisms, such as fruitflies, few viable mutants of ribosomal protein genes have been detected in mice and humans, suggesting that mammals may be less able to compensate for partial loss of function of genes involved in ribosome maturation and function 18,20 .…”

Section: Discussionmentioning

confidence: 92%

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Mouse Eri1 interacts with the ribosome and catalyzes 5.8S rRNA processing

Ansel

Pastor

Rath

et al. 2008

Nat Struct Mol Biol

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Eri1 is a 3′-to-5′ exoribonuclease conserved from fission yeast to humans. Here we show that Eri1 associates with ribosomes and ribosomal RNA (rRNA). Ribosomes from Eri1-deficient mice contain 5.8S rRNA that is aberrantly extended at its 3′ end, and Eri1, but not a catalytically inactive mutant, converts this abnormal 5.8S rRNA to the wild-type form in vitro and in cells. In human and murine cells, Eri1 localizes to the cytoplasm and nucleus, with enrichment in the nucleolus, the site of preribosome biogenesis. RNA binding residues in the Eri1 SAP and linker domains promote stable association with rRNA and thereby facilitate 5.8S rRNA 3′ end processing. Taken together, our findings indicate that Eri1 catalyzes the final trimming step in 5.8S rRNA processing, functionally and spatially connecting this regulator of RNAi with the basal translation machinery.

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Section: Discussionmentioning

confidence: 92%

“…Ribosome biogenesis is tightly coordinated to ensure proper translational control. Inefficient ribosome biogenesis is associated with growth defects in budding yeast 17 , flies18, mice19 , 20 and humans 21 .…”

mentioning

confidence: 99%

Mouse Eri1 interacts with the ribosome and catalyzes 5.8S rRNA processing

Ansel

Pastor

Rath

et al. 2008

Nat Struct Mol Biol

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“…Uncoupling protein synthesis from cell growth and proliferation can result in tumorigenesis. Indeed, several gene products involved in ribosomal biogenesis and protein translation are associated with tumor susceptibility (e.g., mutated ribosomal protein S19 in Diamond-Blackfan Anemia and mutated DKC1 in dyskeratosis congenital), 9,10 suggesting that cancer cells may have defects in ribosomal control. Therefore, it has been hypothesized that ribosomal biogenesis may represent a critical pathway that must be monitored in order to preserve the fidelity of protein synthesis.…”

Section: Control Of Ribosome Biogenesismentioning

confidence: 99%

Translational research? Ribosome integrity and a new p53 tumor suppressor checkpoint

Opferman

Zambetti²

2006

Cell Death Differ

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The p53 tumor suppressor senses a variety of cellular stresses, such as DNA damage and inappropriate proliferation, and responds accordingly by inducing cell cycle arrest or apoptosis. The ability of p53 to regulate cell division and survival is considered essential for blocking tumor development. A recent article by Sulic et al. 18 provides convincing genetic evidence that p53 also surveils the state of protein synthesis. Here, we focus on how p53 may detect alterations in translation and the consequence of this monitoring process on maintaining normal cell homeostasis.

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“…For instance, RPS4 has been implicated in Turner's syndrome, 1 and the mutant RPS19 was found in individuals with Diamond-Blackfan anemia. 2 In colorectal carcinoma, the overexpressions of RPS3, 3 RPS19 4 and RPL7a 5 have been reported. RPL23, a tumor metastasis-related gene, was found to induce high invasiveness of a human lung adenocarcinoma cell line.…”

Section: Introductionmentioning

confidence: 99%

Differential expression of a subset of ribosomal protein genes in cell lines derived from human nasopharyngeal epithelium

Sim

Ang

et al. 2009

J Hum Genet

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Extraribosomal functions of human ribosomal proteins (RPs) include the regulation of cellular growth and differentiation, and are inferred from studies that linked congenital disorders and cancer to the deregulated expression of RP genes. We have previously shown the upregulation and downregulation of RP genes in tumors of colorectal and nasopharyngeal carcinomas (NPCs), respectively. Herein, we show that a subset of RP genes for the large ribosomal subunit is differentially expressed among cell lines derived from the human nasopharyngeal epithelium. Three such genes (RPL27, RPL37a and RPL41) were found to be significantly downregulated in all cell lines derived from NPC tissues compared with a nonmalignant nasopharyngeal epithelial cell line. The expression of RPL37a and RPL41 genes in human nasopharyngeal tissues has not been reported previously. Our findings support earlier suspicions on the existence of NPC-associated RP genes, and indicate their importance in human nasopharyngeal organogenesis. Keywords: differential expression; human cell lines; nasopharyngeal epithelium; NPC; RPL; RPL27; RPL37a; RPL41 INTRODUCTIONProducts of ribosomal protein (RP) genes are essential for cellular protein biosynthesis. Besides this, studies have also linked them to human congenital disorders and cancers. For instance, RPS4 has been implicated in Turner's syndrome, 1 and the mutant RPS19 was found in individuals with Diamond-Blackfan anemia. 2 In colorectal carcinoma, the overexpressions of RPS3, 3 RPS19 4 and RPL7a 5 have been reported. RPL23, a tumor metastasis-related gene, was found to induce high invasiveness of a human lung adenocarcinoma cell line. 6 In our previous study, 33 RP genes were overexpressed in tumors of colorectal carcinoma relative to their normal controls. 7 We have also recently identified two RP genes (namely RPS27 and RPS26) to be downregulated in nasopharyngeal carcinoma (NPC) tumors compared with a normal control. 8 Despite the increasing number of cancer-associated RP genes identified thus far, the full repertoire of RP genes linked to human cancers remains unclear. In this study, 18 RP genes encoding proteins for large ribosomal subunits were tested on cell lines derived from NPC tissues and the normal nasopharyngeal epithelium. This effort was aimed at identifying nasopharyngeal-associated RP genes.

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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Cited by 727 publications

References 39 publications

Mouse Eri1 interacts with the ribosome and catalyzes 5.8S rRNA processing

Mouse Eri1 interacts with the ribosome and catalyzes 5.8S rRNA processing

Translational research? Ribosome integrity and a new p53 tumor suppressor checkpoint

Differential expression of a subset of ribosomal protein genes in cell lines derived from human nasopharyngeal epithelium

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