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相关概念视频

Pleiotropy01:33

Pleiotropy

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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,...
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Regulation of Expression at Multiple Steps01:23

Regulation of Expression at Multiple Steps

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The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the...
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Regulation of Metabolism01:19

Regulation of Metabolism

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Cellular needs and conditions vary from cell to cell and change within individual cells over time. For example, the required enzymes and energetic demands of stomach cells are different from those of fat storage cells, skin cells, blood cells, and nerve cells. Furthermore, a digestive cell works much harder to process and break down nutrients during the time that closely follows a meal compared with many hours after a meal. As these cellular demands and conditions vary, so do the amounts and...
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Epistasis Analysis01:09

Epistasis Analysis

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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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%...
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Covalently Linked Protein Regulators02:04

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Proteins can undergo many types of post-translational modifications, often in response to changes in their environment. These modifications play an important role in the function and stability of these proteins. Covalently linked molecules include functional groups, such as methyl, acetyl, and phosphate groups, and also small proteins, such as ubiquitin. There are around 200 different types of covalent regulators that have been identified.
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相关实验视频

Updated: Jun 5, 2025

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
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在UBE2E2附近的非编码变异通过多基因效应器编排心脏代谢病变型.

Yang Zhang1,2,3, Natalie L David2, Tristan Pesaresi2,3

  • 1School of Public Health (Shenzhen), Sun Yat-sen University, Shenzhen, Guangdong, China.

JCI insight
|December 10, 2024
PubMed
概括

非编码DNA中的遗传变异可以通过影响多个基因来影响2型糖尿病等复杂疾病. 这项研究揭示了多基因调节效应,其中变异影响远处基因,有助于疾病机制.

关键词:
脂肪组织的脂肪组织.糖尿病 糖尿病 糖尿病内分泌学 在内分泌学.遗传变异是一种遗传变异.遗传学 遗传学 是一个

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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相关实验视频

Last Updated: Jun 5, 2025

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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科学领域:

  • 遗传学 遗传学 是一个
  • 分子生物学分子生物学
  • 代谢疾病 代谢疾病

背景情况:

  • 全基因组关联研究 (GWAS) 识别了与复杂疾病相关的遗传变异,但潜在的机制,特别是非编码变异,往往不清楚.
  • 2型糖尿病 (T2D) 和内脏肥胖症涉及复杂的遗传因素和组织特异性机制.
  • 了解非编码变异在T2D发病过程中的作用,对于开发有效的治疗策略至关重要.

研究的目的:

  • 调查与T2D和UBE2E2位点内脏脂肪相关的非编码单核酸变异 (SNV) 的功能影响.
  • 确定这些非编码SNVs影响的候选cis调节元素和因果基因.
  • 阐明代谢疾病中非编码变异的多基因调节效应.

主要方法:

  • 针对含有SNV的区域进行CRISPR向和CRISPR干扰 (CRISPRi) 查,以确定监管要素.
  • 在饮食诱导肥胖的小鼠模型中进行遗传功能丧失研究.
  • 活体脂肪生成试验,以评估对脂肪细胞分化的影响.
  • 遗传学和功能性基因组学方法的整合.

主要成果:

  • 在UBE2E2位点的非编码变异影响了多个基因的调节,包括UBE2E2,UBE2E1和邻近基因.
  • 在UBE2E2附近准多个基因在体外减弱脂肪生成.
  • 在小鼠中,Ube2e2和Ube2e1的复合异性功能丧失更好地复制了病理性脂肪和代谢表型,而不是单独对任何一种基因的同性损失.
  • 非编码变异的调节效应超出了最近的基因范围.

结论:

  • 非编码变体可以产生多基因调节效应,影响多个基因并导致T2D等复杂疾病.
  • 二型糖尿病的致病机制可能涉及通过非编码变异对多个基因的协调调节.
  • 这项研究提供了一个模型来理解远端非编码变异如何驱动复杂疾病表型.