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Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers.
- Source :
-
International journal of biological macromolecules [Int J Biol Macromol] 2017 Jan; Vol. 94 (Pt A), pp. 728-734. Date of Electronic Publication: 2016 Oct 17. - Publication Year :
- 2017
-
Abstract
- 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.<br /> (Copyright © 2016 Elsevier B.V. All rights reserved.)
- Subjects :
- Case-Control Studies
Chromosomal Proteins, Non-Histone genetics
Gene Expression
Hematopoietic Stem Cells metabolism
Hematopoietic Stem Cells pathology
Hemoglobin E genetics
Heterozygote
Humans
Leukocytes, Mononuclear metabolism
Leukocytes, Mononuclear pathology
Methylation
Primary Cell Culture
Protein Biosynthesis
RNA, Ribosomal, 28S genetics
RNA, Small Nucleolar genetics
RNA, Small Nucleolar metabolism
Ribosomes genetics
Uridine Monophosphate genetics
Uridine Monophosphate metabolism
beta-Thalassemia genetics
beta-Thalassemia pathology
Chromosomal Proteins, Non-Histone metabolism
Hemoglobin E metabolism
RNA Processing, Post-Transcriptional
RNA, Ribosomal, 28S metabolism
Ribosomes metabolism
beta-Thalassemia metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1879-0003
- Volume :
- 94
- Issue :
- Pt A
- Database :
- MEDLINE
- Journal :
- International journal of biological macromolecules
- Publication Type :
- Academic Journal
- Accession number :
- 27765567
- Full Text :
- https://doi.org/10.1016/j.ijbiomac.2016.10.039