Sequence variants within exon 1 ofMECP2 occur in females with mental retardation
| Autor: | Chris G, Harvey, Sailesh D, Menon, Beata, Stachowiak, Abdul, Noor, Adam, Proctor, Albert K, Mensah, Gevork N, Mnatzakanian, Simon E, Alfred, Ray, Guo, Stephen W, Scherer, James L, Kennedy, Wendy, Roberts, Anand K, Srivastava, Anand K, Srivistava, Berge A, Minassian, John B, Vincent |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Methyl-CpG-Binding Protein 2 DNA Mutational Analysis Molecular Sequence Data Rett syndrome Biology Polymorphism Single Nucleotide MECP2 Cellular and Molecular Neuroscience Exon Trinucleotide Repeats Intellectual Disability medicine Humans Coding region Amino Acid Sequence Autistic Disorder Gene Genetics (clinical) Sequence (medicine) Genetics Sex Characteristics Alanine Base Sequence Alternative splicing Exons medicine.disease Psychiatry and Mental health Case-Control Studies Female Trinucleotide repeat expansion |
| Zdroj: | American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. :355-360 |
| ISSN: | 1552-485X 1552-4841 |
| DOI: | 10.1002/ajmg.b.30425 |
| Popis: | A new splice variant of the Rett syndrome gene, MECP2, was recently identified, that includes coding sequence from exon 1, and is the predominant transcript in the central nervous system. This sequence encodes polyalanine and polyglycine stretches within the N-terminal portion of MeCP2, and may confer novel functional properties to the protein. We screened autism, mental retardation (MR), and control populations for sequence variation within this region, and identified variation in ∼1% of MR cases screened (N = 1,410). No variants were identified in the autism sample (N = 401). Most of these variants occur within a trinucleotide repeat region and result in change in number of alanine or glycine residues within the repeat stretches. We suggest some of these variants may be a relatively frequent cause of non-specific MR or developmental delay. © 2006 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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