Next Article in Journal / Special Issue
Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene
Previous Article in Journal
Host-Derived Artificial MicroRNA as an Alternative Method to Improve Soybean Resistance to Soybean Cyst Nematode
Previous Article in Special Issue
Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations
Article Menu

Export Article

Open AccessReview
Genes 2016, 7(12), 121; doi:10.3390/genes7120121

Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)

NYS Institute for Basic Research, Staten Island, NY 10314, USA
*
Author to whom correspondence should be addressed.
Academic Editor: Mark Hirst
Received: 14 September 2016 / Revised: 28 November 2016 / Accepted: 30 November 2016 / Published: 9 December 2016
(This article belongs to the Special Issue Fragile X Syndrome)
View Full-Text   |   Download PDF [653 KB, uploaded 9 December 2016]   |  

Abstract

The final product of FMR1 gene transcription, Fragile X Mental Retardation Protein 1 (FMRP), is an RNA binding protein that acts as a repressor of translation. FMRP is expressed in several tissues and plays important roles in neurogenesis, synaptic plasticity, and ovarian functions and has been implicated in a number of neuropsychological disorders. The loss of FMRP causes Fragile X Syndrome (FXS). In most cases, FXS is due to large expansions of a CGG repeat in FMR1—normally containing 6–54 repeats—to over 200 CGGs and identified as full mutation (FM). Hypermethylation of the repeat induces FMR1 silencing and lack of FMRP expression in FM male. Mosaic FM males express low levels of FMRP and present a less severe phenotype that inversely correlates with FMRP levels. Carriers of pre-mutations (55–200 CGG) show increased mRNA, and normal to reduced FMRP levels. Alternative splicing of FMR1 mRNA results in 24 FMRP predicted isoforms whose expression are tissues and developmentally regulated. Here, we summarize the approaches used by several laboratories including our own to (a) detect and estimate the amount of FMRP in different tissues, developmental stages and various pathologies; and (b) to accurately quantifying FMRP for a direct diagnosis of FXS in adults and newborns. View Full-Text
Keywords: FXS; FMRP; western blot; ELISA; TR-FRET; DBS; newborn screening; capture immunoassays; FMRP expression FXS; FMRP; western blot; ELISA; TR-FRET; DBS; newborn screening; capture immunoassays; FMRP expression
Figures

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

LaFauci, G.; Adayev, T.; Kascsak, R.; Brown, W.T. Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP). Genes 2016, 7, 121.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Genes EISSN 2073-4425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top