昼夜基因中的单核酸多态 (SNP):对基因功能和表型的影响
Ibrahim Baris1, Onur Ozcan1, Ibrahim Halil Kavakli2
1Department of Molecular Biology and Genetics, Koc University, Rumelifeneri Yolu, Sariyer, Istanbul, Türkiye.
Advances in protein chemistry and structural biology
|September 14, 2023
概括
核心昼夜钟基因中的单核酸多态影响人类昼夜节律和疾病易感性. 了解这些遗传变异对于预测和管理与昼夜干扰相关的健康结果至关重要.
科学领域:
- 时间生物学 时间生物学
- 人类遗传学 人类遗传学
- 分子生物学分子生物学
背景情况:
- 昼夜节律调节日常生理过程,包括睡眠和清醒周期.
- 哺乳动物的分子昼夜时钟涉及转录和翻译反循环 (TTFL) 与核心蛋白质BMAL1,CLOCK,CRY和PER.
- 昼夜节律的干扰与各种疾病有关.
研究的目的:
- 总结核心时钟基因中单核酸多态 (SNPs) 对昼夜节律的影响.
- 审查这些SNP与人类疾病之间的关联.
主要方法:
- 对流行病学和遗传学研究的审查.
- 分析核心时钟基因变异在昼夜调节中的作用.
- 遗传发现与疾病患病率的相关性.
主要成果:
- 核心时钟基因中的特定SNP可以改变昼夜节律.
- 这些遗传变异与某些人类疾病的风险增加有关.
- 这种TTFL机制对遗传多态性很敏感.
结论:
- 核心时钟基因SNP代表了人类昼夜节律和疾病的重要因素.
- 对这些遗传变异的进一步研究可以为疾病预防和治疗策略提供信息.
- 了解遗传学和昼夜生物学的相互作用对公共健康至关重要.
相关概念视频
Circadian Rhythms and Gene Regulation
4.1K
The biological clock is involved in many aspects of regulating complex physiology in all animals. It was in 1935 when German zoologists, Hans Kalmus and Erwin Bünning, discovered the existence of circadian rhythm in Drosophila melanogaster. However, the internal molecular mechanisms behind the circadian clock remained a mystery until 1984, when Jeffrey C. Hall, Michael Rosbash, and Michael W. Young discovered the expression of the Per gene oscillating over a 24-hour cycle. In subsequent...
4.1K
Chronopharmacokinetics: Circadian Rhythms and Influence on Drug Response
87
Circadian rhythms are cyclic changes that are crucial in plasma drug concentrations. Various standard circadian parameters, including core body temperature, heart rate, and other cardiovascular factors, directly impact disease states and the therapeutic response to drug therapy.
The time of drug administration is an important factor to consider, as it can influence the toxic dose of a drug. For example, a study conducted by Prins et al. in 1997 examined the effects of the timing of...
The time of drug administration is an important factor to consider, as it can influence the toxic dose of a drug. For example, a study conducted by Prins et al. in 1997 examined the effects of the timing of...
87
Comparing Copy Number Variations and SNPs
17.7K
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%...
17.7K
Single Nucleotide Polymorphisms-SNPs
15.2K
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,...
15.2K
Biological Clocks and Seasonal Responses
34.7K
The circadian—or biological—clock is an intrinsic, timekeeping, molecular mechanism that allows plants to coordinate physiological activities over 24-hour cycles called circadian rhythms. Photoperiodism is a collective term for the biological responses of plants to variations in the relative lengths of dark and light periods. The period of light-exposure is called the photoperiod.
34.7K
Human Genetics
610
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
610


