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

OBJECTIVE: It is hypothesized that transcriptional regulation plays an impo rtant role for neurofibromatosis type 2 (NF2) expression in Schwann cells a nd other cell types. The objective of this study is the isolation and chara cterization of the transcriptional regulatory elements of the NF2 gene. STUDY DESIGN AND SETTING: A bacterial artificial chromosome library and a p artial genomic DNA library were used to isolate the human NF2 gene; NF2 pro moter-luciferase constructs were generated, and promoter activities were as sayed. 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 isolat ed. An additional 5' NF2 sequence has also been cloned. Transient transfect ion experiments demonstrate strong promoter activity from the NF2 5' flanki ng DNA. CONCLUSIONS: The NF2 gene is approximately 100 kilobases long. Both positiv e 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 .