综合性分析突出了与神经精神疾病相关的功能调节变异
Margaret G Guo1,2, David L Reynolds2, Cheen E Ang3,4,5
1Stanford Program in Biomedical Informatics, Stanford University, Stanford, CA, USA.
Nature genetics
|October 19, 2023
概括
研究人员在人类神经细胞中确定了与神经精神疾病相关的非编码变体. 这些变异,特别是那些影响运输的变异,可能揭示了自闭症和精神分裂症等疾病的共同遗传原因.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学是一种遗传学.
- 分子生物学分子生物学
背景情况:
- 非编码基因变异与神经精神疾病的遗传性有关.
- 了解这些变异的调节功能对于疾病病因学至关重要.
研究的目的:
- 识别和描述与十种主要神经精神疾病相关的非编码变异.
- 调查这些变异在人类神经细胞中的功能影响,并提名候选目标基因.
- 探索潜在的共同遗传机制,是神经精神疾病的基础.
主要方法:
- 对2221种与人类神经细胞发育中的10种神经精神疾病相关的非编码变异进行分析.
- 结合表观基因组,转录基因组数据和大规模并行记者测定 (MPRA) 来识别差异活性单核酸变体 (daSNV).
- 基因表达映射,网络分析和染色质循环,以指定由daSNVs调节的与疾病相关的基因.
主要成果:
- 在特定的神经细胞类型中识别daSNV.
- 通过daSNVs调节的候选基因的提名.
- 有证据表明,运输功能障碍是神经精神疾病的潜在危险因素.
- 在多种神经精神疾病中表明潜在的共同症状的共同遗传途径.
结论:
- 非编码变体在神经精神疾病的遗传基础上发挥着重要作用.
- 运输的失调可能是神经精神疾病中常见的致病机制.
- 共同的遗传途径可能解释不同神经精神疾病中的重叠症状.
更多相关视频
04:41Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
19.0K
07:15Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
11.0K
相关概念视频
Human Genetics
588
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...
588
Neural Regulation
39.5K
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
39.5K
Genome-wide Association Studies-GWAS
13.5K
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...
13.5K
