Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development

PloS One
Lise MichelG Gourdon

Abstract

Myotonic dystrophy type 1 (DM1) is caused by an unstable expanded CTG repeat located within the DMPK gene 3'UTR. The nature, severity and age at onset of DM1 symptoms are very variable in patients. Different forms of the disease are described, among which the congenital form (CDM) is the most severe. Molecular mechanisms of DM1 are well characterized for the adult form and involve accumulation of mutant DMPK RNA forming foci in the nucleus. These RNA foci sequester proteins from the MBNL family and deregulate CELF proteins. These proteins are involved in many cellular mechanisms such as alternative splicing, transcriptional, translational and post-translational regulation miRNA regulation as well as mRNA polyadenylation and localization. All these mechanisms can be impaired in DM1 because of the deregulation of CELF and MBNL functions. The mechanisms involved in CDM are not clearly described. In order to get insight into the mechanisms underlying CDM, we investigated if expanded RNA nuclear foci, one of the molecular hallmarks of DM1, could be detected in human DM1 fetal tissues, as well as in embryonic and neonatal tissues from transgenic mice carrying the human DMPK gene with an expanded CTG repeat. We observed very abundant ...Continue Reading

References

Mar 1, 1995·The Journal of Cell Biology·K L TanejaR H Singer
Mar 1, 1993·Journal of the Neurological Sciences·A T HagemanJ M Boon
Dec 23, 2000·The Journal of Biological Chemistry·N A TimchenkoL T Timchenko
Aug 14, 2003·Gene Expression Patterns : GEP·Rahul N KanadiaMaurice S Swanson
Jan 15, 2004·The Journal of Biological Chemistry·Nikolai A TimchenkoLubov T Timchenko
Apr 15, 2005·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Andrea N LaddThomas A Cooper
Sep 6, 2005·Science·S KatayamaUNKNOWN FANTOM Consortium
Apr 7, 2007·PLoS Genetics·Mário Gomes-PereiraGeneviève Gourdon
Mar 13, 2008·Journal of Neuroscience Research·Hayato OnishiShoichi Ishiura
May 20, 2008·Human Mutation·Bernd KruseAndreas Gal
Jul 9, 2008·Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology·Yu-Fan LiuHuichin Pan
Dec 17, 2008·Proceedings of the National Academy of Sciences of the United States of America·Auinash KalsotraThomas A Cooper
Dec 20, 2008·The American Journal of Pathology·Ian HoltGlenn E Morris
Jul 30, 2009·Nature Reviews. Molecular Cell Biology·Mohammad Ali Faghihi, Claes Wahlestedt
Dec 22, 2010·Proceedings of the National Academy of Sciences of the United States of America·Tao ZuLaura P W Ranum
Jun 21, 2011·Nature Structural & Molecular Biology·Frédérique RauNicolas Charlet-Berguerand
Jul 5, 2011·Trends in Molecular Medicine·Mário Gomes-PereiraGeneviève Gourdon
Jul 29, 2011·Nucleic Acids Research·Agnieszka MykowskaWlodzimierz J Krzyzosiak
Aug 9, 2011·Human Molecular Genetics·Géraldine SicotMário Gomes-Pereira
Dec 20, 2011·Wiley Interdisciplinary Reviews. RNA·Twishasri Dasgupta, Andrea N Ladd
Feb 14, 2013·Brain : a Journal of Neurology·Oscar Hernández-HernándezMário Gomes-Pereira
May 24, 2014·Current Opinion in Genetics & Development·John Douglas Cleary, Laura P W Ranum

❮ Previous
Next ❯

Citations

Mar 5, 2017·American Journal of Human Genetics·Lise BarbéChristopher E Pearson
Feb 17, 2017·Current Opinion in Genetics & Development·Nan Zhang, Tetsuo Ashizawa
Apr 14, 2017·Methods : a Companion to Methods in Enzymology·Martyna O UrbanekWlodzimierz J Krzyzosiak
Aug 17, 2016·Brain Pathology·Eulàlia Martí
Jul 28, 2018·Frontiers in Neurology·Sandra O BrazMário Gomes-Pereira
Sep 22, 2020·RNA Biology·Mauno Vihinen
Nov 27, 2019·International Journal of Molecular Sciences·Laurène M AndréBé Wieringa
May 18, 2018·Human Molecular Genetics·Ginny R MorrissThomas A Cooper
Nov 18, 2016·Journal of Neuromuscular Diseases·Spandan KalraChris Denning
May 6, 2017·Frontiers in Cellular Neuroscience·Genevieve Gourdon, Giovanni Meola
Dec 4, 2020·Biological Reviews of the Cambridge Philosophical Society·Lauren L OzimskiRuben Artero
Feb 19, 2021·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Ralf WeijsAnne-Marie van Cappellen van Walsum
May 25, 2021·Frontiers in Cellular Neuroscience·Anchel González-BarrigaMário Gomes-Pereira
Nov 28, 2021·International Journal of Molecular Sciences·Virginia Veronica ViscontiAnnalisa Botta
Nov 11, 2020·Molecular Therapy : the Journal of the American Society of Gene Therapy·Seren MarshThomas C Roberts

❮ Previous
Next ❯

Methods Mentioned

BETA
confocal microscopy
transgenic

Software Mentioned

Imaris
ImageJ
GraphPad Prism

Related Concepts

Related Feeds

Alternative splicing

Alternative splicing a regulated gene expression process that allows a single genetic sequence to code for multiple proteins. Here is that latest research.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

Developmental Dynamics : an Official Publication of the American Association of Anatomists
Anthony Chau, Auinash Kalsotra
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
Shoichi IshiuraNoboru Sasagawa
Circulation Research
Ami MankodiCharles A Thornton
© 2021 Meta ULC. All rights reserved