File:Fragile X protein cartoon.jpg: Difference between revisions

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Fragile X Protein Model

Alternative splicing of the primary transcripts generates either ISO6 FMRP lacking the CRD domain, or ISO1 FMRP containing both NLS and CRD domains.

ISO6 is driven to Cajal bodies by transporter proteins, while ISO1 interacts with protein partners that lock the NLS and CRD domains and is localized to the perinuclear area to join the nascent mRNPs complexes emerging from the nuclear pores.

In the cytoplasm the ISO1 FMRP-mRNPs particles associate with the translation machinery or are transported in RNA-granules to micro-domains away from the soma.

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

Historic Embryology - Genital
General: 1901 Urinogenital Tract \| 1902 The Uro-Genital System \| 1904 Ovary and Testis \| 1912 Urinogenital Organ Development \| 1914 External Genitalia \| 1921 Urogenital Development \| 1921 External Genital \| 1942 Sex Cords \| 1953 Germ Cells \| Historic Embryology Papers \| Historic Disclaimer
Female: 1904 Ovary and Testis \| 1904 Hymen \| 1912 Urinogenital Organ Development \| 1914 External Genitalia \| 1914 Female \| 1921 External Genital \| 1927 Female Foetus 15 cm \| 1927 Vagina \| 1932 Postnatal Ovary
Male: 1887-88 Testis \| 1904 Ovary and Testis \| 1904 Leydig Cells \| 1906 Testis vascular \| 1909 Prostate \| 1912 Prostate \| 1914 External Genitalia \| 1915 Cowper’s and Bartholin’s Glands \| 1920 Wolffian tubules \| 1935 Prepuce \| 1935 Wolffian Duct \| 1942 Sex Cords \| 1943 Testes Descent \| Historic Embryology Papers \| Historic Disclaimer

Human Chromosomes: 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | X | Y

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 10 doi:10.1371/journal.pgen.1003890.g010 panel B cropped from full figure. Resized and relabelled.

Cite this page: Hill, M.A. (2024, June 25) Embryology Fragile X protein cartoon.jpg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:Fragile_X_protein_cartoon.jpg

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-===Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies===
+==Fragile X Protein Model==
-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.
+Alternative splicing of the primary transcripts generates either ISO6 FMRP lacking the CRD domain, or ISO1 FMRP containing both NLS and CRD domains.
-Abstract
+ISO6 is driven to Cajal bodies by transporter proteins, while ISO1 interacts with protein partners that lock the NLS and CRD domains and is localized to the perinuclear area to join the nascent mRNPs complexes emerging from the nuclear pores.
-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.
+In the cytoplasm the ISO1 FMRP-mRNPs particles associate with the translation machinery or are transported in RNA-granules to micro-domains away from the soma.
+:'''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]]
+<br>
+<br>
+{{X Chromosome Links}}
 ===Reference===
-<pubmed>24204304</pubmed>| [http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1003890 PLoS Genet.]
+{{#pmid:24204304}}
 ====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 10 doi:10.1371/journal.pgen.1003890.g010 panel B cropped from full figure. Resized and relabelled.
+{{Footer}}
+[[Category:Fragile X Syndrome]][[Category:Cartoon]][[Category:X Chromosome]]