Analysis of the human neurofibromatosis type 2 gene promoter and its expression.
Analysis of the human neurofibromatosis type 2 gene promoter and its expression.
复制标题
人神经纤维瘤病2型基因启动子及其表达的分析。
DOI：
10.1067/mhn.2000.107683
复制
发表时间：
2000
期刊：
影响因子：
--
通讯作者：
Chang,LS
中科院分区：
文献类型：
--
作者：
Welling,DB;Akhmametyeva,EM;Daniels,RL;Lasak,JM;Zhu,L;Miles-Markley,BA;Chang,LS
OBJECTIVE: It is hypothesized that transcriptional regulation plays an important role for neurofibromatosis type 2 (NF2) expression in Schwann cells and other cell types. The objective of this study is the isolation and characterization of the transcriptional regulatory elements of the NF2 gene.STUDY DESIGN AND SETTING: A bacterial artificial chromosome library and a partial genomic DNA library were used to isolate the human NF2 gene; NF2 promoter-luciferase constructs were generated, and promoter activities were assayed. This study was carried out in a molecular biology laboratory.RESULTS: A bacterial artificial chromosome clone with an approximately 100-kilobase insert containing nearly the entire human NF2 gene has been isolated. An additional 5’ NF2 sequence has also been cloned. Transient transfection experiments demonstrate strong promoter activity from the NF2 5’ flanking DNA.CONCLUSIONS: The NF2 gene is approximately 100 kilobases long. Both positive and negative regulatory elements are present in NF2 5’ flanking regions.SIGNIFICANCE: Better understanding of the NF2 gene and its regulation will improve molecular diagnostics and ultimately treatment of patients with NF2. (Otolaryngol Head Neck Surg 2000; 123:413-8.)
