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Fragile X protein ISO6 and Cajal bodies

Localization of nuclear FMRP isoforms tagged with GFP, after transfection of HeLa cells with the corresponding expression vectors.

Note the presence of ISO6 and ISO12 in Cajal bodies. GFP-ISO6 FMRP colocalizes with Coilin in Cajal bodies (white arrow heads).

Links: Image - FMRP and Cahal bodies | FMRP model | Fragile X Syndrome | Cajal

Reference

Dury AY, El Fatimy R, Tremblay S, Rose TM, Côté J, De Koninck P & Khandjian EW. (2013). Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies. PLoS Genet. , 9, e1003890. PMID: 24204304 DOI.

Copyright

© 2013 Dury et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Figure 4 doi:10.1371/journal.pgen.1003890.g004 panel C cropped from full figure. Resized and relabelled.

Cite this page: Hill, M.A. (2024, May 19) Embryology Fragile X protein ISO6 and Cajal bodies.jpg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:Fragile_X_protein_ISO6_and_Cajal_bodies.jpg

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	Date/Time	Thumbnail	Dimensions	User	Comment
current	10:05, 15 August 2014		1,000 × 397 (41 KB)	Z8600021 (talk \| contribs)	===Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies=== PLoS Genet. 2013 Oct;9(10):e1003890. doi: 10.1371/journal.pgen.1003890. Epub 2013 Oct 31. Dury AY1, El Fatimy R, Tremblay S, Rose TM, Côté J, De Koninck P, Khandjian EW....

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Fragile X Syndrome

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@@ Line 1: / Line 1: @@
-===Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies===
+==Fragile X protein ISO6 and Cajal bodies==
-PLoS Genet. 2013 Oct;9(10):e1003890. doi: 10.1371/journal.pgen.1003890. Epub 2013 Oct 31.
-Dury AY1, El Fatimy R, Tremblay S, Rose TM, Côté J, De Koninck P, Khandjian EW.
+Localization of nuclear FMRP isoforms tagged with GFP, after transfection of HeLa cells with the corresponding expression vectors.
-Abstract
+Note the presence of ISO6 and ISO12 in Cajal bodies. GFP-ISO6 FMRP colocalizes with Coilin in Cajal bodies (white arrow heads).
+:'''Links:''' [[:File:Fragile_X_protein_ISO6_and_Cajal_bodies.jpg|Image - FMRP and Cahal bodies]] | [[:File:Fragile X protein cartoon.jpg|FMRP model]] | [[Fragile X Syndrome]] | [[Embryology_History_-_Santiago_Ramón_y_Cajal|Cajal]]
-Fragile X syndrome is caused by loss of function of a single gene encoding the Fragile X Mental Retardation Protein (FMRP). This RNA-binding protein, widely expressed in mammalian tissues, is particularly abundant in neurons and is a component of messenger ribonucleoprotein (mRNP) complexes present within the translational apparatus. The absence of FMRP in neurons is believed to cause translation dysregulation and defects in mRNA transport essential for local protein synthesis and for synaptic development and maturation. A prevalent model posits that FMRP is a nucleocytoplasmic shuttling protein that transports its mRNA targets from the nucleus to the translation machinery. However, it is not known which of the multiple FMRP isoforms, resulting from the numerous alternatively spliced FMR1 transcripts variants, would be involved in such a process. Using a new generation of anti-FMRP antibodies and recombinant expression, we show here that the most commonly expressed human FMRP isoforms (ISO1 and 7) do not localize to the nucleus. Instead, specific FMRP isoforms 6 and 12 (ISO6 and 12), containing a novel C-terminal domain, were the only isoforms that localized to the nuclei in cultured human cells. These isoforms localized to specific p80-coilin and SMN positive structures that were identified as Cajal bodies. The Cajal body localization signal was confined to a 17 amino acid stretch in the C-terminus of human ISO6 and is lacking in a mouse Iso6 variant. As FMRP is an RNA-binding protein, its presence in Cajal bodies suggests additional functions in nuclear post-transcriptional RNA metabolism. Supporting this hypothesis, a missense mutation (I304N), known to alter the KH2-mediated RNA binding properties of FMRP, abolishes the localization of human FMRP ISO6 to Cajal bodies. These findings open unexplored avenues in search for new insights into the pathophysiology of Fragile X Syndrome.
 ===Reference===
-<pubmed>24204304</pubmed>| [http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1003890 PLoS Genet.]
+{{#pmid:24204304}}
 ====Copyright====
@@ Line 15: / Line 16: @@
 © 2013 Dury et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
-Figure 6 panel C cropped from full figure. Resized and relabelled.
+Figure 4 doi:10.1371/journal.pgen.1003890.g004 panel C cropped from full figure. Resized and relabelled.
+{{Footer}}
+[[Category:Fragile X Syndrome]]