When ribosomes go bad: diseases of ribosome biogenesis

被引:139
作者
Freed, Emily F. [2 ]
Bleichert, Franziska [2 ]
Dutca, Laura M. [3 ]
Baserga, Susan J. [1 ,2 ,3 ]
机构
[1] Yale Univ, Sch Med, Dept Therapeut Radiol, New Haven, CT 06520 USA
[2] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06520 USA
[3] Yale Univ, Sch Med, Dept Mol Biophys & Biochem, New Haven, CT 06520 USA
关键词
DIAMOND-BLACKFAN ANEMIA; SMALL NUCLEOLAR RNA; LINKED DYSKERATOSIS-CONGENITA; INDIAN CHILDHOOD CIRRHOSIS; SMALL-SUBUNIT PROCESSOME; OPEN-ANGLE GLAUCOMA; TCOF1; GENE-PRODUCT; PRADER-WILLI; TELOMERASE COMPONENT; ANAUXETIC DYSPLASIA;
D O I
10.1039/b919670f
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
Ribosomes are vital for cell growth and survival. Until recently, it was believed that mutations in ribosomes or ribosome biogenesis factors would be lethal, due to the essential nature of these complexes. However, in the last few decades, a number of diseases of ribosome biogenesis have been discovered. It remains a challenge in the field to elucidate the molecular mechanisms underlying them.
引用
收藏
页码:481 / 493
页数:13
相关论文
共 160 条
[51]   Abnormalities of the large ribosomal subunit protein, Rp135a, in Diamond-Blackfan anemia [J].
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. .
BLOOD, 2008, 112 (05) :1582-1592
[52]   Analysis of the in vivo assembly pathway of eukaryotic 40S ribosomal proteins [J].
Ferreira-Cerca, Sebastien ;
Poell, Gisela ;
Kuehn, Holger ;
Neueder, Andreas ;
Jakob, Steffen ;
Tschochner, Herbert ;
Milkereit, Philipp .
MOLECULAR CELL, 2007, 28 (03) :446-457
[53]   No association between variations in the WDR36 gene and primary open-angle glaucoma [J].
Fingert, John H. ;
Alward, Wallace L. M. ;
Kwon, Young H. ;
Shankar, Suma P. ;
Andorf, Jeaneen L. ;
Mackey, David A. ;
Sheffield, Val C. ;
Stone, Edwin M. .
ARCHIVES OF OPHTHALMOLOGY, 2007, 125 (03) :434-436
[54]   Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits [J].
Flygare, Johan ;
Aspesi, Anna ;
Bailey, Joshua C. ;
Miyake, Koichi ;
Caffrey, Jacqueline M. ;
Karlsson, Stefan ;
Ellis, Steven R. .
BLOOD, 2007, 109 (03) :980-986
[55]   Absence of nucleolar disruption after impairment of 40s ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction [J].
Fumagalli, Stefano ;
Di Cara, Alessandro ;
Neb-Gulati, Arti ;
Natt, Francois ;
Schwemberger, Sandy ;
Hall, Jonathan ;
Babcock, George F. ;
Bernardi, Rosa ;
Pandolfi, Pier Paolo ;
Thomas, George .
NATURE CELL BIOLOGY, 2009, 11 (04) :501-U350
[56]   RNA polymerase I transcription and pre-rRNA processing are linked by specific SSU processome components [J].
Gallagher, JEG ;
Dunbar, DA ;
Granneman, S ;
Mitchell, BM ;
Osheim, Y ;
Beyer, AL ;
Baserga, SJ .
GENES & DEVELOPMENT, 2004, 18 (20) :2506-2517
[57]   The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA [J].
Ganapathi, Karthik A. ;
Austin, Karyn M. ;
Lee, Chung-Sheng ;
Dias, Anusha ;
Malsch, Maggie M. ;
Reed, Robin ;
Shimamura, Akiko .
BLOOD, 2007, 110 (05) :1458-1465
[58]   Site-specific pseudouridine formation in preribosomal RNA is guided by small nucleolar RNAs [J].
Ganot, P ;
Bortolin, ML ;
Kiss, T .
CELL, 1997, 89 (05) :799-809
[59]   Functional organization of the yeast proteome by systematic analysis of protein complexes [J].
Gavin, AC ;
Bösche, M ;
Krause, R ;
Grandi, P ;
Marzioch, M ;
Bauer, A ;
Schultz, J ;
Rick, JM ;
Michon, AM ;
Cruciat, CM ;
Remor, M ;
Höfert, C ;
Schelder, M ;
Brajenovic, M ;
Ruffner, H ;
Merino, A ;
Klein, K ;
Hudak, M ;
Dickson, D ;
Rudi, T ;
Gnau, V ;
Bauch, A ;
Bastuck, S ;
Huhse, B ;
Leutwein, C ;
Heurtier, MA ;
Copley, RR ;
Edelmann, A ;
Querfurth, E ;
Rybin, V ;
Drewes, G ;
Raida, M ;
Bouwmeester, T ;
Bork, P ;
Seraphin, B ;
Kuster, B ;
Neubauer, G ;
Superti-Furga, G .
NATURE, 2002, 415 (6868) :141-147
[60]   Ribosomal protein S24 gene is mutated in diamond-blackfan anemia [J].
Gazda, Hanna T. ;
Grabowska, Agnieszka ;
Merida-Long, Lilia B. ;
Latawiec, Elzbieta ;
Schneider, Hal E. ;
Lipton, Jeffrey M. ;
Vlachos, Adrianna ;
Atsidaftos, Eva ;
Ball, Sarah E. ;
Orfali, Karen A. ;
Niewiadomska, Edyta ;
Da Costa, Lydie ;
Tchernia, Gil ;
Niemeyer, Charlotte ;
Meerpohl, Joerg J. ;
Stahl, Joachim ;
Schratt, Gerhard ;
Glader, Bertil ;
Backer, Karen ;
Wong, Carolyn ;
Nathan, David G. ;
Beggs, Alan H. ;
Sieff, Colin A. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (06) :1110-1118