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Validated All-in-One™ qPCR Primer for FMR1(NM_002024.5) Search again
Product ID:
HQP005998
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
FMRP, FRAXA, POF, POF1
Gene Description:
fragile X messenger ribonucleoprotein 1
Target Gene Accession:
NM_002024.5(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome.
Gene References into function
- Expression in lymphocytes corresponds with methylation of DNA. No association found between lymphocyte expression and IQ.
- The loss of AGG interruptions in CGG repeats leads to greatly increased instability of the gene.
- A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype.
- Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.
- The timing of both X-inactivation and full mutation FMR1 allele inactivation is different, i.e. X-inactivation occurs earlier in development than inactivation of the full mutation.
- Functional brain activation during arithmetic processing in females with fragile X Syndrome is related to FMR1 protein expression.
- Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome.
- Methylation of the arginine-glycine-rich region in this fragile X mental retardation protein differentially affects RNA binding.
- This report is the first example of trafficking of RNA-containing granules with FMRP as a core constituent in living PC12 cells.
- The impairment of FMR1 mRNA translation in patients with the Fragile X syndrome with FMR1 premutation is the cause of the lower FMRP levels that leads to the clinical involvement
- The CGG repeat in the 5'UTR exhibits remarkable instability upon transmission from mothers with premutation alleles.
- The fragile X mental retardation protein FMRP binds elongation factor 1A mRNA and negatively regulates its translation in vivo.
- study on allelic/haplotypic fragile X associations among Indians; weak founder effect for the fragile X expansion mutation was found
- FMRP interacts with U-rich RNAs in a yeast three-hybrid system.
- Relationship between the molecular defect in the FMR1 gene and the clinical phenotype associated with fragile x syndrome.
- By using cDNA-SELEX (systematic evolution of ligands by exponential enrichment), this study identified another class of human target-mRNAs which contain U rich sequences.
- Data describe the ability of the FMRP N-terminus to form independently folded units (domains), which may play a role in its function.
- We show that FMRP is phosphorylated between residues 483 and 521, N-terminal to the RGG box, both in murine brain and in cultured cells.
- the most outstanding deficit, occurring especially in males with fragile X mental retardation protein, involved impaired capacity to use an intention to regulate purposeful behavior
- FRAXA premutation strongly indicates the sporadic and familial premature ovarian failure.
- The study demonstrates that older male carriers of premutation alleles of the FMR1 gene are at high risk of developing fragil X-associated tremor/ataxia syndrome.
- neural responses in the right ventrolateral prefrontal cortex and the left and right striatum were correlated with the level of FMR1 gene expression in fragile X syndrome
- point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients
- Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
- FMRP was found to possess all the properties of a potent nucleic acid chaperone, requiring the KH motifs and RGG box for optimal activity
- regulated by transcription factors Nrf-1 and Sp1
- Analysis of the methylation status of the FMR1 promoter in cells derived from patients with Fragile X syndrome.
- CGG trinucleotide repeats of FMR1 in the premutation range affect specific neuronal circuits that are concordant with specific neuropsychological deficits; and that these deficits reflect an emerging neuropsychological phenotype of premutation FraX.
- FMR-1 premutations is associated with males presenting with ataxia
- histone deacetylation and H3-K9 methylation can be established and do not interfere with active gene transcription
- FMR1 repeat size in the lower range (<80 repeats) contributes to the variation in age at menopause; thus, FMR1 could be considered a quantitative trait locus.
- Here, we focus on one aspect of cognition that has been well documented in the fragile X full mutation, namely social cognition.
- Single nucleotide substitutions (AGG interruptions) in the CGG tracts play an important role in the formation of the FMR1 mRNA structure.
- experiments indicate that H3-K4 methylation and DNA demethylation are the main epigenetic switches activating the expression of the FMR1 gene, with histone acetylation playing an ancillary role
- Extended premutation alleles are not detected are not detected in Parkinson Disease.
- Mental retardation associated with the I304N mutation, and likely the Fragile-X syndrome more generally, may relate to a crucial role for RNAs harboring the kissing complex motif as targets for FMRP translational regulation.
- This review of FMRP provides important insights into the regulation and functions of local protein synthesis in the neuronal periphery, and increases our understanding of how these functions can produce specific effects at individual synapses.
- Cytoplasmic FMRP interacting protein 2 is associated with development of atopic asthma in humans. Targeting cytoplasmic FMRP interacting protein 2 could be novel strategy for treating atopic asthma.
- AP-2alpha associates with the Fmr1 promoter in vivo and selectively regulates Fmr1 transcription during embryonic development
- analysis of FMR1 variation in the Mexican population
- FMRP binds specifically to the brain cytoplasmic RNAs BC1/BC200 via a novel RNA-binding motif.
- Total brain and cerebral volumes were significantly related to the number of CGG repeats in the FMR1 gene.
- Lack of FMRP leads to cerebellar deficits at both the cellular and behavioral levels and raise the possibility that cerebellar dysfunctions can contribute to motor learning deficits in Fragile X patients.
- FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.
- PARG is resident in FMRP (Fragile-X mental retardation protein)-associated messenger ribonucleoparticles complexes.
- Evidence is provided concordant with an FMR1 RNA toxic gain-of-function model in a neuropsychiatric phenotype.
- In fully mutated female carriers the methylation status at the EagI restriction site correlates with the levels of FMRP in blood and the fragile X phenotype.
- Arginine methylation is a mechanism for modifying Fmrp function and occurs to limit or modulate RNA binding by Fmrp.
- Mentally Retarded alleles have a lesser number of interspersed AGG and a longer pure 3' CGG repeat than the normal population. They are thus more prone to instability and expansion to long repeat lengths as in the fragile X syndrome of mental retardation
- FMR1 expansion is associated with premature ovarian failure and the manifestation of the ovarian dysfunction could be influenced both by the pattern of interruption of the CGG repeat and by X-inactivation.
- The N-terminal domain of FMRP composite fold determines an allosteric mechanism that regulates the FMRP functions.
- Short review role of Fmr1's role in alterations in the structure and plasticity of synapses on cerebellar Purkinje cells, and synaptic alterations are associated with deficits in the cerebellar learning.
- CREB/ATF family members and nuclear respiratory factor 2, but not upstream stimulatory factors, transactivate the FMR1 gene.
- Data suggest that mathematics may be an area of relative weakness for the women with the FMR1 gene CGG premutation as well as the full mutation.
- Data demonstrate that methylation of FMRP affects its ability to bind to FXR1P and regulate the translation of FMRP target mRNAs.
- An 18-year-old girl presented with premature ovarian failure (POF) and features of BWS syndrome.
- A thermodynamic analysis of the interactions between the FMRP RGG box domain and Sc1, an RNA molecule, was performed.
- Data show that the fragile X mental retardation 1 promoter is at the center of a domain of reduced intersegment interactions that is larger than the domain marked only by histone modifications.
- 1st report of a significant relationship between FMR1 mRNA levels & CGG repeat number within the grey zone range. The threshold for onset of the increase in mRNA levels as a function of CGG repeat size is ~39 repeats & for rate reduction at ~54 repeats.
- Increased repeat numbers of FMR1 allele is associated with negative cognitive performance
- A Strong linkage disequilibrium was observed between the CGG repeat and flanking FMR1 markers in all three Asian populations, with strong association between specific CGG repeat alleles and flanking marker alleles observed only in the Chinese and Malays.
- Fragile X syndrome offers a unique molecular model for autism since FMRP regulates the translation of many other genes involved in synaptic formation and plasticity which should be natural targets for further exploration.
- The FMR1 origin is active in transformed cell lines, fibroblasts from healthy individuals, fibroblasts from patients with fragile X syndrome, and fetal cells as early as 8 weeks old.
- Analysis of FMR1 messenger RNA (mRNA) within the intranuclear inclusions isolated from post-mortem brain tissue of a fragile X-associated tremor/ataxia syndrome (FXTAS) patient leads to a proposed RNA toxic gain-of-function model for FXTAS.
- FMR1 transcripts were detected in foreskin and male fetal lung fibroblasts, while FMR2 transcripts were not. However, both FMR1 and FMR2 were found to replicate late in S phase (approximately 6 h into the S phase of normal human fibroblasts).
- Elevated FMR1 mRNA in premutation carriers is due to increased transcription.
- Carrier of (CGG)(91) allele, although showing a major radiological sign of symmetrical white-matter lesions in the middle cerebellar peduncles, did not have any significant neurological manifestation of temor/ataxia syndrome at 73 years of age.
- data suggest a singular but relatively low genetic diversity at FMR1 in Mexican Mestizos from Mexico City & Mexican Amerindians from three indigenous communities that may be related to the recent origin of Mestizos & the low admixture rate of Amerindians
- non-linear relationship among premutation carriers for ovarian insufficiency. mid-range repeat size group (80-100 repeats) had increased risk for: altered cycle traits (shortened cycle, irregular cycles & skipped cycles), subfertility & dizygotic twins
- Broad screening for premutation alleles in Parkinson disease populations is unlikely to be productive in the absence of additional clinical or family history data that suggest involvement of the FMR1 gene.
- Study identified a common SNP variant which cosegregates with the subset of D group haplotypes at highest risk of FMR1 expansion.
- RNA interference assay results showed that endogenous ZF5 acts as a repressor of the human FMR1 gene
- Ile304Asn mutation both perturbs the structure and destabilizes fragile X mental retardation protein
- FMRP acts also as a molecular adaptor between RNA granules and the neurospecific kinesin KIF3C.
- observed a 49 bp tandem duplication adjacent to the triplet repeat of the FMR1 gene and have shown it to occur as a variant in Finland in fragile X syndrome
- Abnormal development of specific brain regions characterizes a neuroanatomic phenotype associated with fragile X syndrome and may mediate the effects of FMR1 gene mutations on the cognitive and behavioral features of the disorder.
- NMR spectroscopy on in vitro transcribed CGG-repeat RNAs and see clear evidence of intramolecular hairpins, with no evidence of tetraplex structures. Both C*G and G*G base pairs form in the hairpin stem, though in a dynamic equilibrium of conformations
- Cessation of ovarian function at the age under 40 affects 1% of women in gen. population. This abnormality has been diagnosed in 16 to 21% of the carriers of premutation in the FMR1 gene. Carriers of the premutation should be offered genetic counseling.
- Although the majority of FMRP is incorporated into elongating polyribosomes in the soluble cytoplasm, microtubule-associated FMRP is predominantly retained in translationally dormant, polyribosome-free messenger ribonucleoprotein (mRNP) complexes.
- report a discrepancy between obvious radiological presentations and minimal clinical involvement in two younger male premutation carriers of fragile X-associated tremor/ataxia
- First report of a significant correlation between the premutation status of FMR1 and a motor feature of fragile X-associated tremor/ataxia syndrome in women.
- Fragile X full mutation alleles composed of a few alleles: implications for CGG repeat expansion.
- the COOH-terminal region of FMRP, as well as the conserved YG box and the region encoded by exon 7 of SMN, are required for the interaction.
- FMRP negatively regulates TXNRD1 translation.
- Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning.
- The researchers identified increased numbers of repeats and greater variation of repeat numbers in FMR1 alleles in several Mexican populations.
- This case report describes a novel polymorphism in the FMR1 gene that may cause difficulty in interpreting the Southern blot for diagnosis of fragile X syndrome.
- Men with FXTAS performed worse than controls on mental status, intelligence, executive cognitive functioning (ECF), working memory, remote recall of information, declarative learning and memory, information processing speed, and temporal sequencing.
- Fragile X neural progenitor cells have reduced expression of FMRP, and this decrease is maintained in culture and following differentiation
- Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or Parkinsonism is reported.
- One in 3.5 women with a family history of fragile X and 1 in 10 with premature ovarian failure had a FMR1 mutation.
- 70 CGG trinucleotide repeats present on the FMR1 gene, consistent with a premutation for fragile X syndrome.
- the models outlined in this study provide significant evidence that the onset of FMR1-associated ovarian insufficiency, as marked by age at menopause, is controlled in part by additive genetic effects
- Data show that a single nucleotide variant in the Fragile X Mental Retardation Protein-1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.
- A mosaic deletion of 1,013,395 bp in FMR1 was found (using high-density X chromosome microarray analysis followed by sequencing of the deletion breakpoints) to be the cause of Fragile X syndrome.
- Male premutation carriers had significant conduction abnormalities of motor and sensory nerves that correlated with molecular measures, suggesting that the premutation FMR1 genotype is a causal factor.
- An inhibitory deficit and its impact across the lifespan are specifically associated with the fragile X premutation status, and may be a precursor for development of a more severe form of cognitive impairment or dementia.
- Ours is the first case of a woman with premutation alleles in the FMR1 gene who also had dementia.
- premutation carriers of FMR1 may be at risk for emotional morbidity; this study shows that phenotypic differences are subtle and of small effect size
- Major depression in females with the FMR1 premutation may not be characterized as an episodically chronic recurrent disorder as it is in community samples
- This case series illustrates that some patients who are FMR1 premutation carriers may appear by history and examination to have idiopathic Parkinson disease. Based on previous studies it is likely that the genetic mutation and parkinsonism are associated
- The findings emphasize the importance of including an assessment of co-occurring conditions in any clinical evaluation of individuals with abnormal variation in the FMR1 gene
- The positive rate of FXS was in the range of 0.77-8.51%, depending on the study groups and the method of diagnosis in South Korea
- A euchromatic configuration in the FMR1 unmethylated full mutations.
- These data support a novel model for FMRP arginine methylation and a role for conformational switch residues in arginine modification.
- propose a contribution of Tdrd3 to FMRP-mediated translational repression and suggest that the loss of the FMRP-Tdrd3 interaction caused by the I304N mutation might contribute to the pathogenesis of Fragile X syndrome
- A pseudo-full mutation identified in fragile X assay reveals a novel base change abolishing an EcoRI restriction site.
- results suggest that female fragile X premutation carriers with normal intelligence are selectively impaired on tests of visual M pathways
- multiple stimuli influence IRES-dependent translation of the FMR1 mRNA and suggest a functional role for the CGG nucleotide repeats
- Data support the proposal that fragile X mental retardation protein plays a role in controlling the fate of mRNAs after translation arrest.
- No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50.
- abnormalities in neurogenesis in embryonic FMRP-deficient brain associated with increased density of pyramidal cells of layer V postnatal neocortex suggesting role for FMRP in regulation of differentiation of neocortical glutamatergic neurons
- These data reveal ethnic differences in the FMR1 gene and implies a complicated evolution of this gene.
- Phosphorylation of FMRP regulates its association with the miRNA pathway by modulating association with Dicer.
- The neurological defects in fragile X syndrome could be due in part to the loss of FMRP function in presynaptic compartments.