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相关概念视频

Translation01:31

Translation

14.9K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
14.9K
Alternative RNA Splicing02:18

Alternative RNA Splicing

21.2K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.2K
Mutations01:39

Mutations

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Overview
83.4K
Comparing Copy Number Variations and SNPs02:26

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%...
17.7K
Mismatch Repair01:20

Mismatch Repair

4.9K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.9K
Single Nucleotide Polymorphisms-SNPs01:05

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

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相关实验视频

Updated: Jul 16, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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病原性编码变体的普遍错位是人类疾病的基础.

Jessica Lacoste1,2,3, Marzieh Haghighi4,3, Shahan Haider1,2

  • 1Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Canada.

bioRxiv : the preprint server for biology
|September 21, 2023
PubMed
概括

确定遗传变异的影响是具有挑战性的. 一个新的成像平台揭示了蛋白质错位影响六分之一的致病变体,影响疾病的理解.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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In Vivo Modeling of the Morbid Human Genome using Danio rerio

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相关实验视频

Last Updated: Jul 16, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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科学领域:

  • 人类遗传学 人类遗传学
  • 分子生物学分子生物学
  • 细胞生物学 细胞生物学

背景情况:

  • 数以千计的致病误解变体是通过测序识别出来的.
  • 评估这些变异的功能影响是遗传研究中的一个重大瓶.

研究的目的:

  • 建立一个高通量成像平台,以测试编码变异对蛋白质定位的影响.
  • 为了评估大量的误解变异在众多的基因和表型.

主要方法:

  • 开发一个高通量成像平台.
  • 测试了来自1000多个基因和相关表型的3547个误解变异.
  • 分析蛋白质局部化的变化.

主要成果:

  • 错位化是致病性错位变种的常见后果,影响了大约六分之一的变种.
  • 蛋白质错位影响所有细胞区和衰退性和主导性疾病.
  • 错位化主要是由蛋白质稳定性和膜插入的改变驱动的.

结论:

  • 错位化模式为人们提供了关于类型,疾病严重程度和未知意义的变异的见解.
  • 这种公开可用的资源将加速对人类疾病编码变异的理解.