Publication: Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers
Issued Date
2017-01-01
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ISSN
18790003
01418130
01418130
Other identifier(s)
2-s2.0-84994000052
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Mahidol University
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SCOPUS
Bibliographic Citation
International Journal of Biological Macromolecules. Vol.94, (2017), 728-734
Suggested Citation
Wannapa Sornjai, Pathrapol Lithanatudom, Jenny Erales, Philippe Joly, Alain Francina, Sabine Hacot, Suthat Fucharoen, Saovaros Svasti, Jean Jacques Diaz, Hichem C. Mertani, Duncan R. Smith Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers. International Journal of Biological Macromolecules. Vol.94, (2017), 728-734. doi:10.1016/j.ijbiomac.2016.10.039 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/42069
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Title
Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers
Abstract
© 2016 Elsevier B.V. Ribosome biogenesis is the process of synthesis of the cellular ribosomes which mediate protein translation. Integral with the ribosomes are four cytoplasmic ribosomal RNAs (rRNAs) which show extensive post-transcriptional modifications including 2'-O-methylation and pseudouridylation. Several hereditary hematologic diseases including Diamond-Blackfan anemia have been shown to be associated with defects in ribosome biogenesis. Thalassemia is the most important hematologic inherited genetic disease worldwide, and this study examined the post-transcriptional ribose methylation status of three specific active sites of the 28S rRNA molecule at positions 1858, 4197 and 4506 of β-thalassemia trait carriers and normal controls. Samples from whole blood and cultured erythroid cells were examined. Results showed that site 4506 was hypermethylated in β-thalassemia trait carriers in both cohorts. Expression of fibrillarin, the ribosomal RNA methyltransferase as well as snoRNAs were additionally quantified by RT-qPCR and evidence of dysregulation was seen. Hemoglobin E trait carriers also showed evidence of dysregulation. These results provide the first evidence that ribosome biogenesis is dysregulated in β-thalassemia trait carriers.