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

来源：

MOLECULAR BIOSYSTEMS | 2010年 / 6卷 / 03期

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

页码：481 / 493

页数：13

共 160 条

[1] RNase III cleaves eukaryotic preribosomal RNA at a U3 snoRNP-dependent site [J].

AbouElela, S ;

Igel, H ;

Ares, M .

CELL, 1996, 85 (01) :115-124

[2] Transcriptional regulation and transformation by MYC proteins [J].

Adhikary, S ;

Eilers, M .

NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2005, 6 (08) :635-645

[3] The genetics of primary open-angle glaucoma: A review [J].

Allingham, R. Rand ;

Liu, Yutao ;

Rhee, Douglas J. .

EXPERIMENTAL EYE RESEARCH, 2009, 88 (04) :837-844

[4] Many ribosomal protein genes are cancer genes in zebrafish [J].

Amsterdam, A ;

Sadler, KC ;

Lai, K ;

Farrington, S ;

Bronson, RT ;

Lees, JA ;

Hopkins, N .

PLOS BIOLOGY, 2004, 2 (05) :690-698

[5]

[Anonymous], 1996, Nat Genet, V12, P130

[6] Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome [J].

Armistead, Joy ;

Khatkar, Sunita ;

Meyer, Britta ;

Mark, Brian L. ;

Patel, Nehal ;

Coghlan, Gail ;

Lamont, Ryan E. ;

Liu, Shuangbo ;

Wiechert, Jill ;

Cattini, Peter A. ;

Koetter, Peter ;

Wrogemann, Klaus ;

Greenberg, Cheryl R. ;

Entian, Karl-Dieter ;

Zelinski, Teresa ;

Triggs-Raine, Barbara .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (06) :728-739

[7] Suppression of Myc oncogenic activity by ribosomal protein haploinsufficiency [J].

Barna, Maria ;

Pusic, Aya ;

Zollo, Ornella ;

Costa, Maria ;

Kondrashov, Nadya ;

Rego, Eduardo ;

Rao, Pulivarthi H. ;

Ruggero, Davide .

NATURE, 2008, 456 (7224) :971-U79

[8] Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation [J].

Bartelt-Kirbach, B. ;

Wuepping, M. ;

Dodrimont-Lattke, M. ;

Kaufmann, D. .

NEUROGENETICS, 2009, 10 (01) :79-85

[9] The small-subunit processome is a ribosome assembly intermediate [J].

Bernstein, KA ;

Gallagher, JEG ;

Mitchell, BM ;

Granneman, S ;

Baserga, SJ .

EUKARYOTIC CELL, 2004, 3 (06) :1619-1626

[10] Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22 -: and identification of a shared haplotype [J].

Bétard, C ;

Rasquin-Weber, A ;

Brewer, C ;

Drouin, E ;

Clark, S ;

Verner, A ;

Darmond-Zwaig, C ;

Fortin, J ;

Mercier, J ;

Chagnon, P ;

Fujiwara, TM ;

Morgan, K ;

Richter, A ;

Hudson, TJ ;

Mitchell, GA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (01) :222-228

← 1 2 3 4 5 6 7 8 9 10 →