期刊
JOURNAL OF CHILD NEUROLOGY
卷 27, 期 6, 页码 695-702出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073811423439
关键词
neurofibromatosis type 1; neurofibromin; allelic expression imbalance
资金
- NIH NINDS [R21NS060025]
- NIH, ARRA Administrative Supplement [3R21NS060025-02S1]
- Science Foundation Arizona [CAA 0257-08]
- Barrow Neurological Foundation
- National Basic Research Program of China-973 Program [2010CB529 600]
- National Natural Science Foundation of China [30870899]
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据