参与烟雾诱导的半面微观病变的核心基因的生物信息学分析
Bingyang Liu1, Shanbaga Zhao, Lunkun Ma
1Department of Maxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
The Journal of craniofacial surgery
|September 4, 2023
概括
孕产妇接触烟草烟雾增加了半脸部微观症 (HFM) 的风险. 生物信息学确定TP53,ESR1,ESR2和HNRNPL是参与烟雾诱导HFM的关键基因,为其机制提供了洞察力.
科学领域:
- 发育生物学是发展生物学.
- 遗传学 是一个遗传学.
- 环境健康 环境健康
背景情况:
- 烟草烟雾是众所周知的致病原体.
- 孕妇在怀孕期间吸烟会增加胎儿异常的风险,如半面微观症 (HFM).
- 了解烟雾引起的HFM背后的遗传机制对于预防和干预至关重要.
研究的目的:
- 调查与烟草烟雾暴露相关的HFM的分子机制.
- 确定参与与烟雾和烟草烟雾污染 (TSP) 相关的HFM病变发生的关键基因 (枢纽基因).
- 利用生物信息学的方法来分析基因网络和通路.
主要方法:
- 获取HFM和烟雾/TSP的基因数据.
- 构建一个蛋白质与蛋白质相互作用 (PPI) 网络.
- 基因本体学 (GO) 和基因和基因组的京都百科全书 (KEGG) 使用Metascape进行路径丰富分析.
- 使用cytoHubba插件识别枢纽基因.
主要成果:
- 确定了43个HFM基因和50个与烟草有关的候选基因.
- 功能性丰富分析强调了其在组织形态发生和发育中的作用.
- 在PPI网络的两个不同的模块中确定了10个枢纽基因.
- TP53,ESR1,ESR2和HNRNPL与烟雾引起的HFM非常相关.
结论:
- 生物信息学分析成功地确定了与HFM和烟雾暴露相关的重要枢纽基因,途径和模块.
- 建议TP53,ESR1,ESR2和HNRNPL基因家族在HFM发育中发挥关键作用,原因是母亲吸烟和TSP暴露.
- 这些发现为进一步研究吸烟引起的HFM的具体途径和治疗目标提供了基础.
相关概念视频
Hedgehog Signaling Pathway
7.4K
The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
7.4K
Pleiotropy
40.6K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.6K
Genome-wide Association Studies-GWAS
13.6K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.6K


