使用in silico分析识别人类FNDC5基因的候选nsSNP及其结构和功能后果
Sadaf Majeed1, Hira Moin2, Maaz Waseem3,4
1Department of Biomedical Sciences, Dubai Medical College for Girls, Dubai, United Arab Emirates.
Scientific reports
|March 5, 2025
概括
在FNDC5 (含蛋白-5的Fibronectin type-III域) 中的遗传变异可能会影响虹膜蛋白.
科学领域:
- 分子生物学分子生物学
- 遗传学 遗传学 是一个
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 含有蛋白-5 (FNDC5) 的纤维肌菌素III型域在骨肌中表达,并分泌色素.
- 虹膜促进脂肪组织色和能量消耗,与纤维细胞生长因子-21 (FGF21) 协同发挥作用.
- FNDC5变异与与肥胖相关的疾病有关,这表明它在代谢健康中起着作用.
研究的目的:
- 在人类FNDC5.5中识别非同义单核酸多态 (nsSNP).
- 调查这些nsSNP对FNDC5-FGF21相互作用的影响.
- 评估FNDC5变异对肥胖和相关代谢障碍的潜在贡献.
主要方法:
- 在FNDC5.5中使用计算工具来预测有害的nsSNP.
- 用分子对接来分析突变FNDC5与FGF21.21的结合亲和力.
- 进行了分子动力学 (MD) 模拟,以评估FNDC5-FGF21复合体的结构稳定性.
主要成果:
- 八个nsSNP被确定为潜在的有害物质,包括T124I (rs185141197) 和L150P (rs377741902).
- 与野生类型相比,突变T124I和L150P在FNDC5-FGF21复合体中表现出更多的埋藏表面积 (BSA).
- 医学模拟表明,T124I突变诱导了素域的构造变化,可能会影响FGF21结合.
结论:
- 特定的FNDC5 nsSNP,特别是T124I,可能会破坏虹膜素和FGF21之间的协同相互作用.
- 损坏的FNDC5-FGF21相互作用可能会影响脂肪细胞色和能量消耗.
- 这些遗传变异可能会增加患肥胖和相关代谢障碍的风险.
相关概念视频
Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...


