File:FMR1 is silenced in FXS.jpg

FMR1 is silenced in FXS

Note that in fragile x syndrome, the effects of FMR1 are equivalent to that of FMR4; ie both are silenced in this disorder.

FMR4 is silenced in fragile X syndrome.

(A) RNA from four normal, four premutation and four full mutation FXS patients isolated from untransformed leucocytes (kindly provided by Flora Tassone and Paul Hagerman, UC Davis) was reverse transcribed using random hexamers. Quantitative RT-PCR analysis revealed that FMR4, similar to FMR1, is up-regulated in pre-mutation carriers and shut down in full mutation fragile X patients (P<0.0001).

(B) RNA from untransformed leucocytes were reversed transcribed and the cDNA was used for PCR analysis. FMR4 is expressed in normal and premutation carriers but no bands were observed in the full mutation fragile X patients (35 cycles). FMR1 bands were observed in normal, premutation, and one of the full mutation patients (35 cycles). To account for any possible DNA contamination, no reverse transcriptase control for all samples were used in the PCR (lanes next to bands are all negative indicating no DNA contamination was present).

Error bars: s.d.

Original file name: Figure 3 Pone.0001486.g003.jpg

Copyright: copyright Khalil 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.

Reference: <pubmed> 18213394</pubmed>| PMC2194623

Assessment

+ Figure relavent to group project. + Copyright, citation and student disclaimer included. + This figure is very useful for showing molecular analysis. - You provide no further information in the figure legend, other than the original information, not fully meeting the peer teaching component. - You needed to include a list of all acronyms with full details of what they represent.

Note - This image was originally uploaded as part of a student project and may contain inaccuracies in either description or acknowledgements. Students have been advised in writing concerning the reuse of content and may accidentally have misunderstood the original terms of use. If image reuse on this non-commercial educational site infringes your existing copyright, please contact the site editor for immediate removal.

Cite this page: Hill, M.A. (2024, April 18) Embryology FMR1 is silenced in FXS.jpg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:FMR1_is_silenced_in_FXS.jpg

What Links Here?

© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G