MECP2 Mutations Associated with Rett Syndrome - Molecular Approaches
نویسندگان
چکیده
منابع مشابه
Deleterious mutations in exon 1 of MECP2 in Rett syndrome.
The MECP2 gene is responsible for 80-85% of typical cases of Rett syndrome with deleterious mutations affecting exons 3 and 4. Recently, an alternate transcript including exon 1 was discovered with a new protein isoform (MeCP2_e1) much more abundant in brain. We screened exon 1 of MECP2 for mutations and for large rearrangements in a panel of 212 typical cases of Rett syndrome and one family ca...
متن کاملFunctional consequences of Rett syndrome mutations on human MeCP2.
The neurodevelopmental disorder known as Rett syndrome has recently been linked to the methyl-CpG-binding transcriptional repressor, MeCP2. In this report we examine the consequences of these mutations on the function of MeCP2. The ability to bind specifically to methylated DNA and the transcription repression capabilities are tested, as well as the stability of proteins in vivo. We find that a...
متن کاملMECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome.
Rett syndrome (RTT) is a mostly sporadic disorder of developmental regression, with loss of speech and purposeful hand use, microcephaly and seizures. It affects 1 in 10 000-15 000 females. RTT is caused by mutations in the MECP2 gene, which is located in Xq28 and subject to X inactivation. MECP2 encodes a methyl-CpG-binding protein that binds to 5-methyl-cytosine in DNA through its methyl-bind...
متن کاملThe phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.
Although MECP2 was initially identified as the causative gene in classic Rett syndrome (RTT), the gene has now been implicated in several phenotypes that extend well beyond the clinically defined disorder. MECP2 mutations have been found in people with various disorders, including neonatal onset encephalopathy, X-linked recessive mental retardation (MRX), classic and atypical RTT, autism, and A...
متن کاملMolecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations.
Rett syndrome, a neurodevelopmental disorder that is a leading cause of mental retardation in females, is caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). MECP2 mutations have subsequently been identified in patients with a variety of clinical syndromes ranging from mild learning disability in females to severe mental retardation, seizures, ataxia, and som...
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ژورنال
عنوان ژورنال: Journal of Neonatal Biology
سال: 2016
ISSN: 2167-0897
DOI: 10.4172/2167-0897.1000237