Skewed Allele-Specific Expression of theNF1Gene in Normal Subjects
| Autor: | David Saffen, Vinodh Narayanan, Stephen G. Rice, Chris Rajan, Garilyn Jentarra, Shannon Olfers |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Neurofibromatosis 1 Genotype Gene Expression Biology Polymorphism Single Nucleotide Polymorphism (computer science) medicine Humans RNA Messenger Allele Neurofibromatosis Gene Alleles Genetics Neurofibromin 1 medicine.disease Phenotype Mutation Pediatrics Perinatology and Child Health biology.protein Female Neurology (clinical) Haploinsufficiency |
| Zdroj: | Journal of Child Neurology. 27:695-702 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/0883073811423439 |
| Popis: | Neurofibromatosis type 1 is an autosomal dominant disorder characterized by neurocutaneous abnormalities, learning disabilities, and attention-deficit disorder. Neurofibromatosis type 1 symptom severity can be highly variable even within families where all affected members carry the same mutation. We hypothesized that variation in the expression of the normal NF1 allele may be a mechanism that participates in producing variable phenotypes. We performed allelic expression imbalance assays on healthy control individuals to estimate the prevalence of skewed allelic expression of the NF1 gene. Approximately 30% of individuals in our sample population showed significant skewing of allelic expression away from the expected 50:50 ratio, indicating that differential regulation of the NF1 alleles occurs in a high proportion of individuals. Differences of up to 25% in allele-specific expression of the NF1 alleles were identified. In individuals with Neurofibromatosis type 1, who carry a mutant allele (haploinsufficient), this degree of expression skewing may be sufficient to modulate the phenotype. |
| Databáze: | OpenAIRE |
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