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

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. Stu...

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Published in:Otolaryngology-head and neck surgery 2000-10, Vol.123 (4), p.413-418
Main Authors: Welling, D.Bradley, Akhmametyeva, Elena M., Daniels, Robert L., Lasak, John M., Zhu, Lingyun, Miles-Markley, Beth A., Chang, Long-Sheng
Format: Article
Language:English
Subjects:
Base Sequence
Culture Techniques
DNA, Complementary - isolation & purification
Gene Expression
Genes, Neurofibromatosis 2 - genetics
Genes, Neurofibromatosis 2 - physiology
Genomic Library
Humans
Molecular Sequence Data
Neurofibromatosis 2 - diagnosis
Neurofibromatosis 2 - genetics
Polymerase Chain Reaction
Promoter Regions, Genetic
Sensitivity and Specificity
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Summary: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.)
ISSN:0194-5998
1097-6817
DOI:10.1067/mhn.2000.107683