Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases
Ribosomal RNAs, the most abundant cellular RNA species, have evolved as the structural scaffold and the catalytic center of protein synthesis in every living organism. In eukaryotes, they are produced from a long primary transcript through an intricate sequence of processing steps that include RNA c...
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doaj-4b217ec6fa6340f8a892d6f595b3ff7f2020-11-24T21:58:40ZengMDPI AGBiomolecules2218-273X2018-10-018412310.3390/biom8040123biom8040123Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital DiseasesMaxime Aubert0Marie-Françoise O’Donohue1Simon Lebaron2Pierre-Emmanuel Gleizes3Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, 31000 Toulouse, FranceLaboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, 31000 Toulouse, FranceLaboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, 31000 Toulouse, FranceLaboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, 31000 Toulouse, FranceRibosomal RNAs, the most abundant cellular RNA species, have evolved as the structural scaffold and the catalytic center of protein synthesis in every living organism. In eukaryotes, they are produced from a long primary transcript through an intricate sequence of processing steps that include RNA cleavage and folding and nucleotide modification. The mechanisms underlying this process in human cells have long been investigated, but technological advances have accelerated their study in the past decade. In addition, the association of congenital diseases to defects in ribosome synthesis has highlighted the central place of ribosomal RNA maturation in cell physiology regulation and broadened the interest in these mechanisms. Here, we give an overview of the current knowledge of pre-ribosomal RNA processing in human cells in light of recent progress and discuss how dysfunction of this pathway may contribute to the physiopathology of congenital diseases.https://www.mdpi.com/2218-273X/8/4/123ribosomal RNAs (rRNAs)endonucleasesexonucleasesRNA processingribosomopathiesDiamond–Blackfan anemiaribosomal stress |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Maxime Aubert Marie-Françoise O’Donohue Simon Lebaron Pierre-Emmanuel Gleizes |
spellingShingle |
Maxime Aubert Marie-Françoise O’Donohue Simon Lebaron Pierre-Emmanuel Gleizes Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases Biomolecules ribosomal RNAs (rRNAs) endonucleases exonucleases RNA processing ribosomopathies Diamond–Blackfan anemia ribosomal stress |
author_facet |
Maxime Aubert Marie-Françoise O’Donohue Simon Lebaron Pierre-Emmanuel Gleizes |
author_sort |
Maxime Aubert |
title |
Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases |
title_short |
Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases |
title_full |
Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases |
title_fullStr |
Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases |
title_full_unstemmed |
Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases |
title_sort |
pre-ribosomal rna processing in human cells: from mechanisms to congenital diseases |
publisher |
MDPI AG |
series |
Biomolecules |
issn |
2218-273X |
publishDate |
2018-10-01 |
description |
Ribosomal RNAs, the most abundant cellular RNA species, have evolved as the structural scaffold and the catalytic center of protein synthesis in every living organism. In eukaryotes, they are produced from a long primary transcript through an intricate sequence of processing steps that include RNA cleavage and folding and nucleotide modification. The mechanisms underlying this process in human cells have long been investigated, but technological advances have accelerated their study in the past decade. In addition, the association of congenital diseases to defects in ribosome synthesis has highlighted the central place of ribosomal RNA maturation in cell physiology regulation and broadened the interest in these mechanisms. Here, we give an overview of the current knowledge of pre-ribosomal RNA processing in human cells in light of recent progress and discuss how dysfunction of this pathway may contribute to the physiopathology of congenital diseases. |
topic |
ribosomal RNAs (rRNAs) endonucleases exonucleases RNA processing ribosomopathies Diamond–Blackfan anemia ribosomal stress |
url |
https://www.mdpi.com/2218-273X/8/4/123 |
work_keys_str_mv |
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