ArticleJournal of medical genetics2006
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 33 citations in OpenAlex.
- Methyl-CpG-Binding Protein 2 Emerges as a Central Player in Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorders.Cellular and molecular neurobiology · 2023Review
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- MeCP2: The Genetic Driver of Rett Syndrome Epigenetics.Frontiers in genetics · 2021Review
- Regulation, diversity and function of MECP2 exon and 3'UTR isoforms.Human molecular genetics · 2020Review
- Transcriptional Regulation of Brain-Derived Neurotrophic Factor (BDNF) by Methyl CpG Binding Protein 2 (MeCP2): a Novel Mechanism for Re-Myelination and/or Myelin Repair Involved in the Treatment of Multiple Sclerosis (MS).Molecular neurobiology · 2016Review
- The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome.Frontiers in cellular neuroscience · 2015Review
- CAGE-defined promoter regions of the genes implicated in Rett Syndrome.BMC genomics · 2014Article
- Rett syndrome and MeCP2.Neuromolecular medicine · 2014Review
- Brain region-specific expression of MeCP2 isoforms correlates with DNA methylation within Mecp2 regulatory elements.PloS one · 2014Article
- Role of conserved cis-regulatory elements in the post-transcriptional regulation of the human MECP2 gene involved in autism.Human genomics · 2013Article
- Novel MeCP2 isoform-specific antibody reveals the endogenous MeCP2E1 expression in murine brain, primary neurons and astrocytes.PloS one · 2012Article
- The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.Neurogenetics · 2009Article
- MECP2 genomic structure and function: insights from ENCODE.Nucleic acids research · 2008Review
- Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation.American journal of human genetics · 2007Article
- MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.Journal of human genetics · 2007Article
- The molecular pathology of Rett syndrome: synopsis and update.Neuromolecular medicine · 2006Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
backgroundRett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic RTT patients. Until recently, the region encoding MECP2 was believed to comprise exons 2, 3, and 4 with the ATG start site located at the end of exon 2 (MeCP2_e2).
methodsRecent reports of another mRNA transcript transcribed from exon 1 (MeCP2_e1) prompted us to screen exon 1 among RNA samples from 20 females with classic or atypical RTT.
resultsA previously reported 11 base pair deletion in exon 1 was detected in one subject with a milder phenotype. Although RNA expression for both protein isoforms was detected from the mutant allele, evaluation of MeCP2 protein in uncultured patient lymphocytes by immunocytochemistry revealed that MeCP2 protein production was restricted to only 74-76% of lymphocytes. X chromosome inactivation studies of genomic DNA revealed similar XCI ratios at the HUMARA locus (73:27 with HpaII and 74:26 with McrBC). We have demonstrated that translation but not transcription of the MeCP2_e2 isoform is ablated by the 11 nucleotide deletion, 103 nucleotides upstream of the e2 translation start site.
conclusionsThese findings reveal that nucleotides within the deleted sequence in the 5'-UTR of the MeCP2_e2 transcript, while not required for transcription, are essential for translation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.