Literature DB >> 21536731

Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?

Arlen W Johnson1, Steve R Ellis.   

Abstract

Mutations in the human SBDS (Shwachman-Bodian-Diamond syndrome) gene are the most common cause of Shwachman-Diamond syndrome, an inherited bone marrow failure syndrome. In this issue of Genes & Development, Finch and colleagues (pp. 917-929) establish that SBDS functions in ribosome synthesis by promoting the recycling of eukaryotic initiation factor 6 (eIF6) in a GTP-dependent manner. This work supports the idea that a ribosomopathy may underlie this syndrome.

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Year:  2011        PMID： 21536731      PMCID： PMC3084023          DOI： 10.1101/gad.2053011

Source DB:  PubMed          Journal:  Genes Dev        ISSN： 0890-9369            Impact factor:   11.361


  20 in total

1.  Mutations in SBDS are associated with Shwachman-Diamond syndrome.

Authors:  Graeme R B Boocock; Jodi A Morrison; Maja Popovic; Nicole Richards; Lynda Ellis; Peter R Durie; Johanna M Rommens
Journal:  Nat Genet       Date:  2002-12-23       Impact factor: 38.330

2.  Solution structure of the ribosome recycling factor from Aquifex aeolicus.

Authors:  T Yoshida; S Uchiyama; H Nakano; H Kashimori; H Kijima; T Ohshima; Y Saihara; T Ishino; H Shimahara; T Yoshida; K Yokose; T Ohkubo; A Kaji; Y Kobayashi
Journal:  Biochemistry       Date:  2001-02-27       Impact factor: 3.162

3.  The Shwachman-Bodian-Diamond syndrome gene encodes an RNA-binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis.

Authors:  Deborah Wessels; Thyagarajan Srikantha; Song Yi; Spencer Kuhl; L Aravind; David R Soll
Journal:  J Cell Sci       Date:  2006-01-15       Impact factor: 5.285

4.  Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality.

Authors:  Siyi Zhang; Mingjun Shi; Chi-Chung Hui; Johanna M Rommens
Journal:  Mol Cell Biol       Date:  2006-09       Impact factor: 4.272

5.  Role of elongation factor G and a protein factor on the release of ribosomes from messenger ribonucleic acid.

Authors:  A Hirashima; A Kaji
Journal:  J Biol Chem       Date:  1973-11-10       Impact factor: 5.157

6.  Purification and characterization of a ribosome dissociation factor (eukaryotic initiation factor 6) from wheat germ.

Authors:  D W Russell; L L Spremulli
Journal:  J Biol Chem       Date:  1979-09-25       Impact factor: 5.157

7.  The Shwachman-Diamond SBDS protein localizes to the nucleolus.

Authors:  Karyn M Austin; Rebecca J Leary; Akiko Shimamura
Journal:  Blood       Date:  2005-04-28       Impact factor: 22.113

8.  The nucle(ol)ar Tif6p and Efl1p are required for a late cytoplasmic step of ribosome synthesis.

Authors:  B Senger; D L Lafontaine; J S Graindorge; O Gadal; A Camasses; A Sanni; J M Garnier; M Breitenbach; E Hurt; F Fasiolo
Journal:  Mol Cell       Date:  2001-12       Impact factor: 17.970

9.  Release of eIF6 (p27BBP) from the 60S subunit allows 80S ribosome assembly.

Authors:  Marcello Ceci; Cristina Gaviraghi; Chiara Gorrini; Leonardo A Sala; Nina Offenhäuser; Pier Carlo Marchisio; Stefano Biffo
Journal:  Nature       Date:  2003-12-04       Impact factor: 49.962

10.  The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast.

Authors:  Tobias F Menne; Beatriz Goyenechea; Nuria Sánchez-Puig; Chi C Wong; Louise M Tonkin; Philip J Ancliff; Renée L Brost; Michael Costanzo; Charles Boone; Alan J Warren
Journal:  Nat Genet       Date:  2007-03-11       Impact factor: 38.330
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  6 in total

1.  Cryo-EM structure of the archaeal 50S ribosomal subunit in complex with initiation factor 6 and implications for ribosome evolution.

Authors:  Basil J Greber; Daniel Boehringer; Vlatka Godinic-Mikulcic; Ana Crnkovic; Michael Ibba; Ivana Weygand-Durasevic; Nenad Ban
Journal:  J Mol Biol       Date:  2012-01-27       Impact factor: 5.469

2.  Lyar, a cell growth-regulating zinc finger protein, was identified to be associated with cytoplasmic ribosomes in male germ and cancer cells.

Authors:  Kahori Yonezawa; Yoshihiko Sugihara; Kenzi Oshima; Tsukasa Matsuda; Daita Nadano
Journal:  Mol Cell Biochem       Date:  2014-07-03       Impact factor: 3.396

3.  Impaired ribosomal subunit association in Shwachman-Diamond syndrome.

Authors:  Nicholas Burwick; Scott A Coats; Tomoka Nakamura; Akiko Shimamura
Journal:  Blood       Date:  2012-10-31       Impact factor: 22.113

4.  Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia.

Authors:  Anna M Aalbers; Rodrigo T Calado; Neal S Young; C Michel Zwaan; Sachiko Kajigaya; Andre Baruchel; Karin Geleijns; Valerie de Haas; Gertjan J L Kaspers; Dirk Reinhardt; Jan Trka; Taco W Kuijpers; Rob Pieters; Vincent H J van der Velden; Marry M van den Heuvel-Eibrink
Journal:  Br J Haematol       Date:  2012-11-28       Impact factor: 6.998

Review 5.  Mechanistic insight into eukaryotic 60S ribosomal subunit biogenesis by cryo-electron microscopy.

Authors:  Basil J Greber
Journal:  RNA       Date:  2016-11       Impact factor: 4.942

Review 6.  Nucleolar stress with and without p53.

Authors:  Allison James; Yubo Wang; Himanshu Raje; Raphyel Rosby; Patrick DiMario
Journal:  Nucleus       Date:  2014 Sep-Oct       Impact factor: 4.197
  6 in total

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