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.
引用
收藏
页数:26
相关论文
共 201 条
  • [51] SPECIFIC INTERACTION OF A PURIFIED TRANSCRIPTION FACTOR WITH AN INTERNAL CONTROL REGION OF 5S RNA GENES
    ENGELKE, DR
    NG, SY
    SHASTRY, BS
    ROEDER, RG
    [J]. CELL, 1980, 19 (03) : 717 - 728
  • [52] Evidence for rRNA 2′-O-methylation plasticity: Control of intrinsic translational capabilities of human ribosomes
    Erales, Jenny
    Marchand, Virginie
    Panthu, Baptiste
    Gillotf, Sandra
    Belin, Stephane
    Ghayad, Sandra E.
    Garcia, Maxime
    Laforets, Florian
    Marcel, Virginie
    Baudin-Baillieu, Agnes
    Bertin, Pierre
    Coute, Yohann
    Adrait, Annie
    Meyer, Melanie
    Therizols, Gabriel
    Yusupov, Marat
    Namy, Olivier
    Ohlmann, Theophile
    Motorin, Yuri
    Catez, Frederic
    Diaz, Jean-Jacques
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2017, 114 (49) : 12934 - 12939
  • [53] Espinar-Marchena FJ, 2017, MICROB CELL, V4, P144, DOI 10.15698/mic2017.05.572
  • [54] Diverse Regulators of Human Ribosome Biogenesis Discovered by Changes in Nucleolar Number
    Farley-Barnes, Katherine I.
    McCann, Kathleen L.
    Ogawa, Lisa M.
    Merkel, Janie
    Surovtseva, Yulia V.
    Baserga, Susan J.
    [J]. CELL REPORTS, 2018, 22 (07): : 1923 - 1934
  • [55] Abnormalities of the large ribosomal subunit protein, Rp135a, in Diamond-Blackfan anemia
    Farrar, Jason E.
    Nater, Michelle
    Caywood, Emi
    McDevitt, Michael A.
    Kowalski, Jeanne
    Takemoto, Clifford M.
    Talbot, C. Conover, Jr.
    Meltzer, Paul
    Esposito, Diane
    Beggs, Alan H.
    Schneider, Hal E.
    Grabowska, Agnieszka
    Ball, Sarah E.
    Niewiadomska, Edyta
    Sieff, Colin A.
    Vlachos, Adrianna
    Atsidaftos, Eva
    Ellis, Steven R.
    Lipton, Jeffrey M.
    Gazda, Hanna T.
    Areci, Robert J.
    [J]. BLOOD, 2008, 112 (05) : 1582 - 1592
  • [56] Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis
    Farrar, Jason E.
    Quarello, Paola
    Fisher, Ross
    O'Brien, Kelly A.
    Aspesi, Anna
    Parrella, Sara
    Henson, Adrianna L.
    Seidel, Nancy E.
    Atsidaftos, Eva
    Prakash, Supraja
    Bari, Shahla
    Garelli, Emanuela
    Arceci, Robert J.
    Dianzani, Irma
    Ramenghi, Ugo
    Vlachos, Adrianna
    Lipton, Jeffrey M.
    Bodine, David M.
    Ellis, Steven R.
    [J]. AMERICAN JOURNAL OF HEMATOLOGY, 2014, 89 (10) : 985 - 991
  • [57] Ribosomal protein gene deletions in Diamond-Blackfan anemia
    Farrar, Jason E.
    Vlachos, Adrianna
    Atsidaftos, Eva
    Carlson-Donohoe, Hannah
    Markello, Thomas C.
    Arceci, Robert J.
    Ellis, Steven R.
    Lipton, Jeffrey M.
    Bodine, David M.
    [J]. BLOOD, 2011, 118 (26) : 6943 - 6951
  • [58] 18S rRNA processing requires base pairings of snR30 H/ACA snoRNA to eukaryote-specific 18S sequences
    Fayet-Lebaron, Eleonore
    Atzorn, Vera
    Henry, Yves
    Kiss, Tamas
    [J]. EMBO JOURNAL, 2009, 28 (09) : 1260 - 1270
  • [59] Nucleolar Association and Transcriptional Inhibition through 5S rDNA in Mammals
    Fedoriw, Andrew M.
    Starmer, Joshua
    Yee, Della
    Magnuson, Terry
    [J]. PLOS GENETICS, 2012, 8 (01)
  • [60] Roles of eukaryotic ribosomal proteins in maturation and transport of pre-18S rRNA and ribosome function
    Ferreira-Cerca, S
    Pöll, G
    Gleizes, PE
    Tschochner, H
    Milkereit, P
    [J]. MOLECULAR CELL, 2005, 20 (02) : 263 - 275