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Base complementarity between the three base pairs of mRNA codon and the tRNA anticodon is not a failsafe mechanism. Inaccuracies can range from a single mismatch to no correct base pairing at all. The free energy difference between the correct and nearly correct base pairs can be as small as 3 kcal/ mol. With complementarity being the only proofreading step, the estimated error frequency would be one wrong amino acid in every 100 amino acids incorporated. However, error frequencies observed in...
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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.
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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...
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转录表达意识注释改善了罕见变体的解释

Beryl B Cummings1,2,3, Konrad J Karczewski1,2, Jack A Kosmicki1,2,4

  • 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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概括
此摘要是机器生成的。

解释罕见的遗传变异是一个挑战. 一种使用外子表达水平的新方法提高了识别致病变异的准确性,特别是在剂量敏感的基因中.

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相关实验视频

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科学领域:

  • 基因组学
  • 分子生物学
  • 生物信息学

背景情况:

  • 加速DNA测序产生了大量的人类遗传变异数据.
  • 解释罕见的基因变异,特别是对剂量敏感基因的破坏性变异,是一个重大挑战.
  • mRNA的替代拼接导致细胞类型的变异性表达,使变异性解释复杂化.

研究的目的:

  • 开发一种新的转录级注释度量来量化变体的异形表达.
  • 评估这个指标在功能性外显重要性的区分方面的实用性.
  • 改进疾病基因中错误注释的潜在功能丧失 (pLoF) 变体的过.

主要方法:

  • 在基因组聚合数据库 (gnomAD) 中手动化pLoF变异.
  • 使用基因型组织表达 (GTEx) 项目的数据开发和计算"跨转录表达的比例"指标.
  • 用表达波器分析自闭症谱系障碍和发育障碍群体中的新变异.

主要成果:

  • "跨转录表达的比例"指标区分了进化保守程度较低的和高度保守的外型.
  • 基于表达的注释可以选择性地过22.8%的错误注释的pLoF变体,并且很少删除致病变体.
  • 在自闭症谱系障碍和发育障碍的情况下,高度表达的外显子中的pLoF变异显著丰富.

结论:

  • 通过结合异形表达数据,开发的注释度量为解释变体提供了有价值的工具.
  • 这种方法提高了罕见疾病的遗传诊断和复杂疾病中罕见变异负担的分析.
  • 标注是快速,灵活和可通用的,有助于在各种遗传研究中对变异进行策划和优先考虑.