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Related Concept Videos

Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved DNA...
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RNA-seq

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. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...
Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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.
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Ribosome Profiling02:24

Ribosome Profiling

Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique helps...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...

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Widespread RNA and DNA sequence differences in the human transcriptome.

Mingyao Li1, Isabel X Wang, Yun Li

  • 1Department of Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

Science (New York, N.Y.)
|May 21, 2011
PubMed
Summary
This summary is machine-generated.

Scientists discovered over 10,000 RNA-DNA differences in the human transcriptome. These widespread variations, found across multiple individuals and cell types, represent a novel aspect of genome variation.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Transcriptomics

Background:

  • The central dogma of molecular biology describes information flow from DNA to RNA.
  • Understanding RNA sequence variations is crucial for comprehending gene expression and regulation.

Purpose of the Study:

  • To investigate the extent and nature of discrepancies between RNA and DNA sequences in the human transcriptome.
  • To determine if these RNA-DNA differences are random or exhibit specific patterns.

Main Methods:

  • Comparative sequencing of RNA and DNA from human B cells of 27 individuals.
  • Analysis of exonic sites for discordances between RNA and DNA sequences.
  • Mass spectrometry to detect peptides translated from discordant RNA sequences.

Main Results:

  • Over 10,000 exonic sites with RNA-DNA differences were identified.
  • All 12 possible categories of sequence discordances were observed.
  • These differences were nonrandom, appearing in multiple individuals and cell types (e.g., skin, brain).
  • Peptides corresponding to discordant RNA sequences were detected via mass spectrometry.

Conclusions:

  • Widespread RNA-DNA differences exist in the human transcriptome.
  • These variations represent a previously unexplored dimension of human genome variation.
  • The findings challenge the assumption of perfect DNA-to-RNA fidelity and have implications for understanding genetic diversity and disease.