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Related Concept Videos

Pre-mRNA Processing: Modification of pre-mRNA Ends01:35

Pre-mRNA Processing: Modification of pre-mRNA Ends

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In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a cap to the 5' end of the growing transcript. In this process, a 5' phosphate is replaced by modified guanosine that has a methyl group attached (7-methyl guanosine). This 5' cap helps...
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pre-mRNA Processing02:01

pre-mRNA Processing

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In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a “cap” to the 5’ end of the growing transcript. In this process, a 5’ phosphate is replaced by modified guanosine that has a methyl group attached to it (7-Methyl...
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Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

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The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
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Nonsense-mediated mRNA Decay02:27

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From DNA to Protein03:06

From DNA to Protein

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The flow of genetic information in cells from DNA to mRNA to protein is described by the central dogma, which states that genes specify the sequence of mRNAs, which in turn specify the sequence of amino acids making up all proteins. The decoding of one molecule to another is performed by specific proteins and RNAs. Because the information stored in DNA is so central to cellular function, it makes intuitive sense that the cell would make mRNA copies of this information for protein synthesis...
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Leaky Scanning02:28

Leaky Scanning

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During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA.  Marilyn Kozak discovered that the sequence RCCAUGG (where R...
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Related Experiment Video

Updated: Mar 24, 2026

Amplification of Near Full-length HIV-1 Proviruses for Next-Generation Sequencing
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Premature termination codons in modern human genomes.

Kohei Fujikura1

  • 1Kobe University School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.

Scientific Reports
|March 3, 2016
PubMed
Summary

Human genetic variation may stem from adaptation. Researchers identified 246 premature termination codons (PTCs) indicating recent selection and human knockouts, revealing ongoing human evolution.

Area of Science:

  • Human evolutionary genetics
  • Population genomics
  • Molecular evolution

Background:

  • Human genetic variation is substantial and may reflect adaptation to diverse environments.
  • Adaptive genomic signatures underlying human evolution require further elucidation.

Purpose of the Study:

  • To investigate candidate loci under selection by characterizing recently emerged premature termination codons (PTCs).
  • To identify potential human knockouts resulting from natural selection.

Main Methods:

  • Analysis of exome data from 7595 participants across two population projects.
  • Identification and frequency assessment of premature termination codons (PTCs).
  • Evaluation of population differentiation (FST) and gene network analysis.

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Analysis of Termination of Transcription Using BrUTP-strand-specific Transcription Run-on TRO Approach
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Analysis of Termination of Transcription Using BrUTP-strand-specific Transcription Run-on TRO Approach
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Main Results:

  • 246 PTCs were identified with high derived allele frequencies (1%-96%) and varying population differentiation (FST 0.00139-0.626).
  • PTC-associated genes formed networks within 15 biological processes/gene families, with seven novel categories identified.
  • PTC mutations showed a propensity for introduction within the same gene family during human evolution.

Conclusions:

  • The study suggests ongoing evolutionary plasticity in modern humans at the genetic level.
  • Findings provide insights into common human knockouts driven by natural selection.
  • Characterization of PTCs offers a novel approach to understanding adaptive evolution.