The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy.

Human Molecular Genetics
Benoît RenvoiséSuzie Lefebvre

Abstract

Spinal muscular atrophy (SMA) is a common autosomal recessive neurodegenerative disease caused by reduced survival motor neuron (SMN) levels. The assembly machinery containing SMN is implicated in the biogenesis of the spliceosomal small nuclear ribonucleoproteins (snRNPs). SMN is present in both the cytoplasm and nucleus, where it transiently accumulates in subnuclear domains named Cajal bodies (CBs) and functions in the maturation of snRNPs and small nucleolar (sno)RNPs. The impact of lowering SMN levels on the composition of CBs in SMA cells is still not completely understood. Here, we analyse the CB composition in immortalized and primary fibroblasts from SMA patients. We show that the U snRNA export factors PHAX and chromosome region maintenance 1 and the box C/D snoRNP core protein fibrillarin concentrate in CBs from SMA cells, whereas the box H/ACA core proteins GAR1 and NAP57/dyskerin show reduced CB localization. Remarkably, the functional deficiency in SMA cells is associated with decreased localization of the snoRNP chaperone Nopp140 in CBs that correlates with disease severity. Indeed, RNA interference knockdown experiments in control fibroblasts demonstrate that SMN is required for accumulation of Nopp140 in CBs. C...Continue Reading

References

Dec 1, 1994·The Journal of Cell Biology·U T Meier, G Blobel
Aug 1, 1997·Human Molecular Genetics·D D CoovertA H Burghes
Jul 29, 1998·The Journal of Cell Biology·C IsaacU T Meier
Sep 29, 1999·Proceedings of the National Academy of Sciences of the United States of America·L PellizzoniG Dreyfuss
Aug 10, 2000·Proceedings of the National Academy of Sciences of the United States of America·Y HofmannB Wirth
Jan 3, 2001·Nature Structural Biology·P SelenkoM Sattler
May 29, 2002·The EMBO Journal·Céline VerheggenEdouard Bertrand
Jul 2, 2002·Proceedings of the National Academy of Sciences of the United States of America·Sibylle JablonkaMichael Sendtner
Dec 3, 2002·Science·Livio PellizzoniGideon Dreyfuss
Jul 2, 2003·Nature Genetics·Tsuyoshi Kashima, James L Manley
Mar 17, 2004·The Journal of Cell Biology·Miroslav DundrTom Misteli
Oct 21, 2004·Molecular Cell·Usha NarayananA Gregory Matera
Dec 3, 2004·Molecular Cell·Séverine BoulonEdouard Bertrand
Mar 17, 2005·Chromosoma·U Thomas Meier
Apr 22, 2005·Human Molecular Genetics·Wenqin FengGideon Dreyfuss
Aug 19, 2005·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Michael BrieseDavid B Sattelle
Oct 11, 2005·Annual Review of Cell and Developmental Biology·Mario Cioce, Angus I Lamond
Nov 23, 2005·Proceedings of the National Academy of Sciences of the United States of America·Karl B Shpargel, A Gregory Matera
Feb 14, 2006·Trends in Molecular Medicine·Christian EggertUtz Fischer
Apr 19, 2006·The Journal of Cell Biology·Xavier DarzacqU Thomas Meier
May 12, 2006·Molecular Biology of the Cell·Ira LemmReinhard Lührmann
Jun 2, 2006·Nucleic Acids Research·Cyrille GirardRémy Bordonné
Feb 24, 2007·Nature Reviews. Molecular Cell Biology·A Gregory MateraMichael P Terns
Mar 27, 2007·Cold Spring Harbor Symposia on Quantitative Biology·T KissM Weber
Apr 13, 2007·Molecular Biology of the Cell·Nupur KitturU Thomas Meier
Jul 20, 2007·Molecular and Cellular Biology·Kenneth Scott McKeeganNicholas James Watkins
Aug 25, 2007·The American Journal of Pathology·Jérémie VitteJudith Melki
Sep 1, 2007·Journal of Child Neurology·Aloicia Schmid, Christine J DiDonato

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Citations

Jun 7, 2011·Nature Cell Biology·Dragomir B KrastevFrank Buchholz
Aug 25, 2010·The Journal of Cell Biology·Tatsuya SuzukiMutsuhito Ohno
Apr 8, 2014·Current Opinion in Cell Biology·Judith E Sleeman, Laura Trinkle-Mulcahy
Jun 25, 2016·Nature Reviews. Cancer·Greg M Arndt, Karen L MacKenzie
Sep 17, 2013·Biology·Marie Morimoto, Cornelius F Boerkoel
Jul 31, 2019·Medicinal Research Reviews·Xing ChenXin-Hua Liu
Oct 31, 2019·Molecular Biology of the Cell·Jonathan BizarroU Thomas Meier
Nov 8, 2016·RNA Biology·Michael D Hebert, Aaron R Poole
Jun 7, 2018·Cellular and Molecular Life Sciences : CMLS·Helena ChaytowKiterie M E Faller
Dec 17, 2020·Oncogene·Jian-Hua LuoYan-Ping Yu
Mar 29, 2012·Journal of Cell Science·Benoît RenvoiséSuzie Lefebvre
Dec 29, 2020·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·S Lefebvre, C Sarret

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