Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders
| العنوان: | Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders |
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| المؤلفون: | Karen Usdin, Daman Kumari |
| المصدر: | Frontiers in Genetics, Vol 6 (2015) Frontiers in Genetics |
| بيانات النشر: | Frontiers Media SA, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Review, R loops, Biology, Bioinformatics, polycomb repressive complex 2, 03 medical and health sciences, 0302 clinical medicine, Trinucleotide Repeats, Tandem repeat, Genetics, medicine, Gene silencing, Gene Silencing, fragile X syndrome, Allele, Genetics (clinical), 030304 developmental biology, Repeat-mediated gene silencing, 0303 health sciences, epigenetics, fragile X-associated tremor/ataxia syndrome, Chromosomal fragile site, medicine.disease, FMR1, Fragile X syndrome, lcsh:Genetics, Molecular Medicine, FXS, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, fragile X-associated primary ovarian insufficiency, Fragile X-associated tremor/ataxia syndrome |
| الوصف: | The fragile X-related disorders are members of the Repeat Expansion Diseases, a group of genetic conditions resulting from an expansion in the size of a tandem repeat tract at a specific genetic locus. The repeat responsible for disease pathology in the fragile X-related disorders is CGG/CCG and the repeat tract is located in the 5′ UTR of the FMR1 gene, whose protein product FMRP, is important for the proper translation of dendritic mRNAs in response to synaptic activation. There are two different pathological FMR1 allele classes that are distinguished only by the number of repeats. Premutation alleles have 55–200 repeats and confer risk of fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. Full mutation alleles on the other hand have >200 repeats and result in fragile X syndrome, a disorder that affects learning and behavior. Different symptoms are seen in carriers of premutation and full mutation alleles because the repeat number has paradoxical effects on gene expression: Epigenetic changes increase transcription from premutation alleles and decrease transcription from full mutation alleles. This review will cover what is currently known about the mechanisms responsible for these changes in FMR1 expression and how they may relate to other Repeat Expansion Diseases that also show repeat-mediated changes in gene expression. |
| تدمد: | 1664-8021 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10474be2adb316e2a171855fe940fb28Test https://doi.org/10.3389/fgene.2015.00192Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....10474be2adb316e2a171855fe940fb28 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16648021 |
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