Analysis of the human neurofibromatosis type 2 gene promoter and its expression

被引:11
作者
Welling, DB
Akhmametyeva, EM
Daniels, RL
Lasak, JM
Zhu, LY
Miles-Markley, BA
Chang, LS
机构
[1] Ohio State Univ, Dept Otolaryngol, Columbus, OH 43210 USA
[2] Ohio State Univ, Dept Pathol, Columbus, OH 43210 USA
[3] Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA
[4] Ohio State Univ, Dept Med Biochem, Columbus, OH 43210 USA
[5] Childrens Hosp, Columbus, OH 43205 USA
关键词
D O I
10.1067/mhn.2000.107683
中图分类号
R76 [耳鼻咽喉科学];
学科分类号
100213 ;
摘要
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.
引用
收藏
页码:413 / 418
页数:6
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