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Related Concept Videos

General Transcription Factors01:30

General Transcription Factors

Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
Transcription Attenuation in Prokaryotes02:42

Transcription Attenuation in Prokaryotes

Transcriptional attenuation occurs when RNA transcription is prematurely terminated due to the formation of a terminator mRNA hairpin structure.  Bacteria use these hairpins to regulate the transcription process and control the synthesis of several amino acids including histidine, lysine, threonine, and phenylalanine. Transcription attenuation takes place in the non-coding regions of mRNA.
There are several different mechanisms used to attenuate transcription. In ribosome mediated...
Transcription in Prokaryotes01:28

Transcription in Prokaryotes

Transcription is a highly regulated process that converts genetic information into RNA molecules. The transcription cycle is divided into three key stages: initiation, elongation, and termination, each driven by specific molecular mechanisms.Initiation of TranscriptionIn bacteria, transcription begins when the RNA polymerase core enzyme associates with a sigma factor to form a holoenzyme. For example, the E. coli sigma factor called σ70 forms a holoenzyme, which recognizes the -10 (Pribnow box)...
tRNA Activation02:26

tRNA Activation

Aminoacyl-tRNA synthetases are present in both eukaryotes and bacteria. Though eukaryotes have 20 different aminoacyl-tRNA synthetases to couple to 20 amino acids, many bacteria do not have genes for all of these aminoacyl-tRNA synthetases. Despite this, they still use all 20 amino acids to synthesize their proteins. For instance, some bacteria do not have the gene encoding the enzyme that couples glutamine with its partner tRNA. In these organisms, one enzyme adds glutamic acid to all of the...
Leaky Scanning02:28

Leaky Scanning

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 stands for...
Transcription Elongation Factors02:35

Transcription Elongation Factors

Transcription elongation is a dynamic process that alters depending upon the sequence heterogeneity of the DNA being transcribed. Hence, it is not surprising that the elongation complex's composition also varies along the way while transcribing a gene.
The transcription elongation is regulated via pausing of RNA polymerase on several occasions during transcription. In bacteria, these halts are necessary because the transcription of DNA into mRNA is coupled to the translation of that mRNA into a...

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Transcriptomic Analysis of C. elegans RNA Sequencing Data Through the Tuxedo Suite on the Galaxy Project
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TDP-43: [GU]-ardian of the transcriptome.

Irika R Sinha1,2,3, Abigail L Atkinson2,4, Katherine E Irwin1,4

  • 1Department of Neuroscience, Johns Hopkins School of Medicine, Baltimore, MD, USA.

Molecular Neurodegeneration
|May 15, 2026
PubMed
Summary

TDP-43 protein dysfunction, marked by cryptic exon inclusion, is central to neurodegenerative diseases like ALS and FTD. Understanding TDP-43

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Area of Science:

  • Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • TDP-43 is a nuclear DNA/RNA-binding protein linked to neurodegenerative diseases.
  • Dysregulation of TDP-43 contributes to diseases such as ALS, FTD, and AD.
  • TDP-43's role in splicing repression, particularly of cryptic exons, is crucial.

Purpose of the Study:

  • To review the structure, regulation, and function of TDP-43.
  • To explore how TDP-43 disruption contributes to neurodegenerative diseases.
  • To highlight cryptic splicing as a marker and therapeutic target for TDP-43 dysfunction.

Main Methods:

  • Literature review of TDP-43 biology and neurodegenerative disease mechanisms.
  • Analysis of RNA-sequencing datasets from human tissues and experimental models.
  • Focus on identifying and curating cryptic exon inclusion data.

Main Results:

  • TDP-43 nuclear depletion and cytoplasmic aggregation are key pathological hallmarks.
  • Loss of TDP-43-mediated splicing repression, leading to cryptic exon inclusion, occurs presymptomatically.
  • RNA-sequencing effectively identifies cryptic exon inclusion as a marker of TDP-43 dysfunction.

Conclusions:

  • Cryptic exon biology is central to understanding TDP-43's role in human disease.
  • Cryptic splicing serves as a sensitive indicator of TDP-43 dysfunction.
  • Leveraging knowledge of cryptic exons can aid in detecting and targeting TDP-43-related disorders.