Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers

© 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 pseudo...

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Main Authors: 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
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Published: 2018
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/56847
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spelling th-cmuir.6653943832-568472018-09-05T03:31:03Z Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers 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 Biochemistry, Genetics and Molecular Biology © 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. 2018-09-05T03:31:03Z 2018-09-05T03:31:03Z 2017-01-01 Journal 18790003 01418130 2-s2.0-84994000052 10.1016/j.ijbiomac.2016.10.039 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84994000052&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/56847
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Biochemistry, Genetics and Molecular Biology
spellingShingle Biochemistry, Genetics and Molecular Biology
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
description © 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.
format Journal
author 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
author_facet 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
author_sort Wannapa Sornjai
title Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers
title_short Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers
title_full Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers
title_fullStr Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers
title_full_unstemmed Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers
title_sort hypermethylation of 28s ribosomal rna in β-thalassemia trait carriers
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84994000052&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/56847
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