School of Biosciences and Technology, VIT University, Vellore, 632 014, Tamil Nadu, India.
Cell Biochem Biophys. 2013;67(3):1391-6. doi: 10.1007/s12013-013-9671-z.
CYP1A1 gene belongs to the cytochrome P450 family and is known better as smokers' gene due to its hyperactivation as a consequence of long term smoking. The expression of CYP1A1 induces polycyclic aromatic hydrocarbon production in the lungs, which when over expressed, is known to cause smoking related diseases, such as cardiovascular pathologies, cancer, and diabetes. Single nucleotide polymorphisms (SNPs) are the simplest form of genetic variations that occur at a higher frequency, and are denoted as synonymous and non-synonymous SNPs on the basis of their effects on the amino acids. This study adopts a systematic in silico approach to predict the deleterious SNPs that are associated with disease conditions. It is inferred that four SNPs are highly deleterious, among which the SNP with rs17861094 is commonly predicted to be harmful by all tools. Hydrophobic (isoleucine) to hydrophilic (serine) amino acid variation was observed in the candidate gene. Hence, this investigation aims to characterize a candidate gene from 159 SNPs of CYP1A1.
CYP1A1 基因属于细胞色素 P450 家族，由于长期吸烟导致其过度激活，因此被称为“烟民基因”。CYP1A1 的表达会诱导肺部多环芳烃的产生，过度表达已知会导致与吸烟有关的疾病，如心血管病变、癌症和糖尿病。单核苷酸多态性（SNP）是最常见的遗传变异形式，其发生频率更高，根据对氨基酸的影响，可表示为同义 SNP 和非同义 SNP。本研究采用系统的计算方法来预测与疾病相关的有害 SNP。推断出四个 SNP 是高度有害的，其中 rs17861094 的 SNP 被所有工具普遍预测为有害。候选基因中观察到疏水性（异亮氨酸）到亲水性（丝氨酸）的氨基酸变化。因此，本研究旨在对 CYP1A1 的 159 个 SNP 中的一个候选基因进行特征描述。
