Welling D B, Akhmametyeva E M, Daniels R L, Lasak J M, Zhu L, Miles-Markley B A, Chang L S
Department of Otolaryngology, Ohio State University and Children's Hospital, USA.
Otolaryngol Head Neck Surg. 2000 Oct;123(4):413-8. doi: 10.1067/mhn.2000.107683.
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.
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.
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.
The NF2 gene is approximately 100 kilobases long. Both positive and negative regulatory elements are present in NF2 5' flanking regions.
Better understanding of the NF2 gene and its regulation will improve molecular diagnostics and ultimately treatment of patients with NF2.
据推测，转录调控在施万细胞和其他细胞类型中对2型神经纤维瘤病（NF2）的表达起着重要作用。本研究的目的是分离和鉴定NF2基因的转录调控元件。
使用细菌人工染色体文库和部分基因组DNA文库来分离人类NF2基因；构建NF2启动子-荧光素酶载体，并检测启动子活性。本研究在分子生物学实验室进行。
已分离出一个细菌人工染色体克隆，其插入片段约100千碱基，几乎包含整个人类NF2基因。还克隆了另外一段NF2基因5'端序列。瞬时转染实验表明NF2基因5'侧翼DNA具有很强的启动子活性。
NF2基因长度约为100千碱基。NF2基因5'侧翼区域存在正调控元件和负调控元件。
更好地了解NF2基因及其调控将改善对NF2患者的分子诊断，并最终改善其治疗。
