Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases

被引:71
作者
Aubert, Maxime [1 ]
O'Donohue, Marie-Francoise [1 ]
Lebaron, Simon [1 ]
Gleizes, Pierre-Emmanuel [1 ]
机构
[1] Univ Toulouse, CBI, Lab Biol Mol Eucaryote, CNRS,UPS, F-31000 Toulouse, France
来源
BIOMOLECULES | 2018年 / 8卷 / 04期
关键词
ribosomal RNAs (rRNAs); endonucleases; exonucleases; RNA processing; ribosomopathies; Diamond-Blackfan anemia; ribosomal stress; DIAMOND-BLACKFAN ANEMIA; 3' END MATURATION; LINKED DYSKERATOSIS-CONGENITA; HUMAN PRE-40S PARTICLE; BONE-MARROW FAILURE; PROTEIN GENE RPL10; POLY(A)-SPECIFIC RIBONUCLEASE; MESSENGER-RNA; EUKARYOTIC RIBOSOME; TRANSLATION INITIATION;
D O I
10.3390/biom8040123
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
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页数:26
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