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Validated All-in-One™ qPCR Primer for MECP2(NM_004992.3) Search again
Product ID:
HQP011148
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT
Gene Description:
methyl-CpG binding protein 2
Target Gene Accession:
NM_004992.3(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
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of some cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. [provided by RefSeq].
Gene References into function
- MECP2 is dispensible in stem cells, but is essential for embryonic development.
- mutation and role in Rett syndrome
- mutation analysis in Italian Rett patients
- Reported five novel frameshift mutations (named 345delC, 895del202, 989ins18del8, 996insAG and 1124del53) in exon 3 and 4 of the MECP2 gene.
- Mutations in MECP2 were identified from most of the patients with classical and variant RTT (25 of 27 cases).
- represses LINE-1 expression and retrotransposition but not Alu transcription
- somatic mosaicism for a MECP2 mutation in females with Rett syndrome
- A neurologic disorder associated with A140V MECP2 mutation affects males more severely than females of the same family.
- MeCP2 may become abundant once a neuron has reached a certain degree of maturity, and this may explain some aspects of the RTT phenotype.
- MeCP2 mutations have been functionally characterized in male patients with X linked mental retardation.
- mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome
- a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.
- Some mutations found in mentally disabled boys are also found in normal relatives.
- MECP2 gene mutations in six Chinese females with Rett syndrome. reduction in N-acetylaspartate/total creatine ratio may not be related to the MECP2 mutation.
- screening of MECP2 gene mutations in Swedish Rett Syndrome clusters
- MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain. Results do not support an essential role for either MeCP2 or HDAC in the silencing of several imprinted genes.
- the spectrum of MECP2 mutations in Chinese patients with Rett syndrome
- low frequency of mutations in mentally retarded males
- MECP2 gene nucleotide changes affect pathology in males: at c.1282 G>A (G428S) severe encephalopathy, at C.1030 C>T (R344W) a Rett-like phenotype, at c.590 C>T (T197M) (congenital encephalopathy, microcephaly, and severe developmental delay).
- Mutations in MECP2 gene were found over 50% of patients with Rett syndrome in China.
- High degree of genetic heterogeneity in Rett patients
- Review--Rett syndrome and MeCP2: linking epigenetics and neuronal function
- MECP2 gene mutation is implicated in Rett's syndrome.
- Methyl-CpG-binding protein 2 but not Sin3 is found in both nuclear and postsynaptic compartments of neurons in normal brain.
- Elevated expression of MECP2 is acquired during postnatal brain development and is correlated with alternative polyadenylation.
- Results show that methyl-CpG binding domain protein 1 (MBD1) is expressed in tumor cells, but methyl-CpG binding domain protein 2 (MBD2) and methyl CpG binding protein 2 (MeCP2) are not.
- conclude that MECP2 mutations (missense or late truncating) can be found in girls with an IQ close to 45 and a history of Preserved Speech Variant of Rett syndrome. MECP2 mutations are not found in patients in which autism remains stable over the years.
- genotype-phenotype relationship of the R133C mutation
- MECP2 mutations in mentally retarded males are far more rare than initially thought
- MECP2 gene mutations are correlated with non-syndromic X-linked mental retardation phenotypes.
- Strong association seen between estrogen receptor (ER) status and MeCP2 mRNA expression; MeCP2, regulated by ER, may play key role in breast tissue differentiation
- This case deserves attention in order, among other things, to provide important clues to better understand the puzzling battery of neuroimpairments and behavioural abnormalities met in classical Rett phenotypes and Rett variants defined thus far.
- MeCP2 acts as a corepressor of PU.1 probably due to facilitating complex formation with mSin3A and HDACs.
- Our data provide compelling evidence for the existence of a novel MeCP2 molecular form, most likely the result of post-translational modification. This novel form of MeCP2 is present in both brain and lymphoid cells.
- The regulation of MeCP2 abundance is related to human brain development, being expressed in neurons when they appear mature. In the Rett syndrome brain, fewer neurons express MeCP2 than in the normal brain.
- Fifteen large deletions found in a deletion prone region in MECP2 in 130 female Rett syndrome patients.
- We screened 24 of the sporadic AS angelman syndrome) cases without detectable UBE3A mutations for mutations of MECP2, but found none.
- description of a previously unknown MeCP2 isoform
- Phenotypic manifestations of mutations in MECP2 were evaluated in classical and atypical Rett syndrome.
- higher frequency of missense and 3'-UTR variants was found in autism
- The average mRNA level of Dnmt1 gene from cancerous tissue was higher and that of mbd2 gene from cancerous tissue was lower than that from non-cancerous tissue
- An 806delG mutation of MECP2 was found in a boy with severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs.
- MECP2 mutations do not represent a major cause of nonspecific mental retardation.
- Rett syndrome is caused by mutations in MECP2 in the majority of cases. (review)
- MeCP2 is involved in chromosome organization in the developing brain and provide a potential mechanistic association between several related neurodevelopmental disorders.
- 45 Rett syndrome patients who had tested negative for mutations in coding regions of MECP2 were found to have large deletions. Large deletions in MECP2 cause classic Rett syndrome.
- MeCP2 deficiency causes epigenetic aberrations at the PWS imprinting center
- MeCP2 has a role in the developing brain; certain genes which are normally silenced by MeCP2 are misexpressed in Rett Syndrome [review]
- The A140V mutation in the MECP2 gene is a etiological factor among Brazilian mentally retarded males.
- demonstrate that MeCP2 and CDKL5 interact both in vivo and in vitro and that CDKL5 is indeed a kinase, which is able to phosphorylate itself and to mediate MeCP2 phosphorylation
- DLX5 is a target for MeCP2, linking genomic imprinting and Rett syndrome [review]
- MeCP2 has roles in human disease beyond its chromatin connections [review]
- Our observation of a reduced survival associated with the p.R270X MECP2 mutation offers an explanation for the under representation of p.R270X in older subjects with Rett syndrome
- MECP2 mutation screening of Rett syndrome. Cases with early onset of regression & seizures, those with clinical features that might indicate alternative aetiologies, were less likely to have mutations.
- Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
- Most cases of Rett syndrome (RTT) are associated with mutations. On the basis of molecular structure, ontogeny, and subcellular and regional distribution, MeCP2 appears to be a link between synaptic activity and neuronal transcription.
- Data from the literature and previous research suggest that MeCP2 is expressed during critical periods of brain development at several sites and in different neurons.
- he behavioral deficits observed are the result of loss of MeCP2 function in postnatal forebrain and not the result of generalized global deficits.
- Interference against MECP2 expression in normal prostate and prostate cancer cells results in growth arrest
- Results showed there were some differences among the behavior patterns with R133C, R306C, R294X, R294X and R255X mutations.
- Study of transgenic mice expressing a truncated allele of Mecp2 demonstrates a requirement for MeCP2 in learning and memory and suggest that functional and ultrastructural synaptic dysfunction is an early event in the pathogenesis of Rett syndrome.
- These data demonstrate the high allelic heterogeneity of RTT in France and suggest that routine mutation screening in MECP2 should include quantitative analysis of the MECP2 gene.
- analysis of enhancer and silencer elements that are likely to be responsible for the tissue-specific, developmental stage-specific or splice-variant-specific control of MeCP2 protein expression
- the great majority of French patients with Rett syndrome have a MECP2 mutation
- Mutations were detected in the MECP2 gene in approximately 60.5% of patients (26 cases/43 cases).
- Review article uses as an example of epigenetic modfications MeCP2-regulated chromatin remodeling in Rett syndrome.
- All 4 inhibitors of differentiation (ID) proteins were significantly increased in Mecp2-deficient Rett syndrome brain; ID genes are ideal primary targets for MeCP2 regulation of neuronal maturation that may explain molecular pathogenesis of Rett syndrome
- Rett syndrome is caused by mutations that affect the methyl-CpG-binding protein MeCP2 provided a major breakthrough in understanding this severe neurodevelopmental disorder.
- MeCP2 and DNA methylation exert epigenetic control over hepatic wound healing and fibrogenesis.
- This study report four de novo occurrences MECP2 mutations in boy : three pathogenic and one potentially pathogenic.
- A statistically significant increase in clinical severity of Rett syndrome with increase in active mutated allele shown for both the p.R168X and p.T158M mutations.
- Rett syndrome is caused by heterozygosity for mutations in the X-linked gene MECP2, which encodes methyl-CpG binding protein 2.
- 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate mental retardation with autistic features and epilepsy. His mother is heterozygous for the same mutation.
- Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome.
- study concludes that in mentally retarded Brazilian males, non-pathogenic variants in the MECP2 gene are more common than actual pathogenic mutations, and therefore alterations in this gene have a weak relationship with mental retardation in males
- Identification of 45 different MECP2 mutations in 102 Rett syndrome patients.
- A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.
- MeCP2 binding to DNA and chromatin involves a number of different molecular interactions, some of which result in compaction and oligomerization.
- Significantly lower MECP2 expression levels were found in several patients with classic and atypical Rett's syndrome with no mutation findings.
- polymorphisms within exon 1 of MECP2 occur in females with mental retardation.
- Increased MECP2 gene copy number is mainly responsible for the neurodevelopmental delays in males.
- Male Rett phenotypes in T158M and R294X MeCP2-mutations.
- Disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation.
- FXYD1 is is identified as a MeCP2 target gene whose de-repression may directly contribute to Rett syndrome neuronal pathogenesis
- These results suggest that MeCP2 acts as a chromatin organizer for optimal expression of both alleles of GABRB3 in neurons.
- MECP2 mutations in large groups of males and females affected with mental retardation without FRAXA expansion
- Our results confirm the high frequency of MECP2 mutations in females with RTT and provide data concerning the mutation heterogeneity in the Slavic population.
- several patients with classic and atypical Rett's sysndrome with no mutation findings had significantly lower MECP2 expression. levels
- No variaton observed in gene mutational analysis in autistic boys showing regression of autism.
- Although symmetric midline hand stereotypies were not specific to patients with an MECP2 mutation, some of the other stereotypies seemed to be more characteristic of this group.
- These results suggest that MECP2 can play a role in autism etiology, although very rarely, supporting the notion that MECP2 mutations underlie several neurodevelopmental disorders.
- Mutation p.Arg270fs (c.808delC) was identified in both a girl with classical RTT and her brother who had the severe neurological phenotype usually described in males.
- percent promoter methylation of MECP2 significantly correlated with reduced MeCP2 protein expression. These results suggest that both genetic and epigenetic defects lead to reduced MeCP2 expression and may be important in the complex etiology of autism
- outlines the emerging story of how MeCP2 has been implicated in the regulation of specific imprinted genes and loci, including UBE3A and DLX5 [review]
- The prevalence of sleep problems was highest in cases with a large deletion of the MECP2 gene and in those with the p.R294X or p.R306C mutations. Sleep problems are common in Rett syndrome and there is some variation with age and mutation type.
- These data show, for the first time, the involvement of methyl-CpG binding domain proteins in the regulation of the MAGE-A genes.
- nucleosomal linker DNA is a crucial binding partner of MeCP2 and different RTT-causing mutations of MeCP2 are correspondingly defective in different aspects of the interactions that alter chromatin architecture
- Females with Rhett syndrome with the p.R306C or p.T158M mutations in the MECP2 gene were more likely to have an initial diagnosis of autism, and the specific Rett syndrome symptoms were noted at a later age
- MeCP2 plays no role in the maintenance of genomic imprinting and add PEG3 and PEG10 to the list of studied imprinted genes.
- This study reaffirms the view that large MECP2 deletions are an important cause of both classical and atypical Rett syndrome.
- Homozygosity for MECP2 gene is associated with Rett syndrome
- MeCP2 and parental imprinting has unfolded with interesting twists, revealing new insights on the function of MeCP2 in Rett syndrome.[REVIEW]
- alterations in the affinity of MeCP2 for chromatin might contribute to the pathological effects of mutations causing Rett Syndrome.
- MECP2 large deletions are a common cause of classic Rett, and MLPA analysis is mandatory in MECP2-negative patients, especially in those more severely affected
- Large MECP2 rearrangements cause Rett syndrome in a significant number of girls without 'classic' mutations in this gene.
- These results indicate that the primary function of MeCP2 is not the silencing of methylated promoters.
- MeCP2 binds to and is involved in repression of Rest and CoRest promoters despite their unmethylated state. MeCP2 depletion is associated with a change in the histone modification profile to a more active conformation
- The International Rett Syndrome Association (IRSA) North American database is the first comprehensive compilation of information in the United States and Canada on individuals with Rett syndrome or another diagnosis in association with MECP2 mutations.
- X-inactivation and MECP2 genotype didn't explain the phenotypic manifestations of Rett syndrome. Other genomic factors have to be considered to explain the phenotypic differences
- This result suggests that mechanisms other than X chromosome inactivation may contribute to the phenotypic heterogeneity associated with MECP2 mutations.
- As a result of MeCP2 mutation there is a transient delay in terminal differentiation during synaptogenesis, as well as a chronic disruption of function that is overcome through compensatory responses that restore homeostasis.
- variants within MECP2 confer risk of systemic lupus erythematosus
- Specific MECP2 mutations contribute significantly to the clinical variation in typical Rett syndrome.
- Results suggest a two-step mechanism in which part of Xq28 is first inserted near the MECP2 locus, followed by breakage-induced replication with strand invasion of the normal sister chromatid.
- Case report and literature review are compared to produce salient criteria for clinical diagnosis of male congenital encephalopathy caused by MECP2 null mutations
- frequent Rett syndrome-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties
- Rett syndrome Patients with truncating mutations present a higher rate & more severe dystonia & rigid-akinetic syndrome, when compared with groups with a similar time of disease evolution.
- Multiple de novo mutations in the MECP2 gene are reported.
- Silencing of MBD1 and MeCP2 in prostate-cancer-derived PC3 cells produces differential gene expression profiles and cellular phenotypes
- None of the variants found in 3'- untranslated regions of MECP2 gene is located in putative protein-binding sites nor predicted to have a pathogenic role in Rett syndrome and mental retardation patients.
- transgenic Drosophila overexpressing human MeCP2. MeCP2 associates with chromatin and is phosphorylated at serine 423 in Drosophila, as is found in mammals.
- A review of the functions and genomic structures of MECP2.
- a gradient of impairment is present when the p.P152A mutation is compared with an allelic p.P152R mutation, which causes classic Rett syndrome
- Dysregulation of EGR2 and MeCP2 plays roles in in Rett syndrome and autism.