Department of Biochemistry, Dr. R.M.L. Avadh University, Faizabad, India.
Scand J Immunol. 2010 Nov;72(5):375-87. doi: 10.1111/j.1365-3083.2010.02458.x.
Nitric oxide synthase gene is present on chromosome 17 and has been implicated in a wide variety of diseases. The nitric oxide synthase enzyme forms nitric oxide that besides being a signalling molecule plays an important role in host immune response. Inducible nitric oxide synthase expression is regulated at the level of transcription. Single-nucleotide polymorphisms, copy number variation and simple sequence repeat are important variations that have been reported in human genome. The presence of such variations in the regulatory region affects the level of gene product in the cell, while variation in the coding region influences the structure of proteins and its activity. This alteration in the level of gene product and the structure of the protein molecule might be responsible for the final outcome of genetic as well as infectious diseases. In the present manuscript, we review the role of inducible nitric oxide synthase (iNOS) gene polymorphisms in different diseases and populations. The iNOS gene with one pentanucleotide repeat, two single-nucleotide polymorphisms in promoter region and one polymorphism in exon 16 has been implicated in several diseases. We have also predicted several polymorphisms in the promoter region of iNOS computationally, which might affect the transcription factor binding site (TFBS) and hypothesize that these polymorphisms have some putative role in the outcome of disease(s).
一氧化氮合酶基因位于 17 号染色体上,与多种疾病有关。一氧化氮合酶产生的一氧化氮不仅是一种信号分子,在宿主免疫反应中也起着重要作用。诱导型一氧化氮合酶的表达受转录水平的调控。单核苷酸多态性、拷贝数变异和简单重复序列是人类基因组中已报道的重要变异。调节区域中这些变异的存在会影响细胞中基因产物的水平,而编码区域的变异会影响蛋白质的结构和活性。基因产物水平和蛋白质分子结构的这种改变可能是遗传和传染病最终结果的原因。在本手稿中,我们综述了诱导型一氧化氮合酶(iNOS)基因多态性在不同疾病和人群中的作用。具有一个五核苷酸重复、启动子区域中的两个单核苷酸多态性和一个外显子 16 中的多态性的 iNOS 基因与几种疾病有关。我们还通过计算预测了 iNOS 启动子区域中的几个多态性,这些多态性可能会影响转录因子结合位点(TFBS),并假设这些多态性在疾病的结果中具有一些潜在作用。