Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Organization of Genes02:07

Organization of Genes

68.5K
Overview
68.5K
lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

8.6K
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
8.6K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
13.3K
Ribosome Profiling02:24

Ribosome Profiling

3.5K
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...
3.5K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

7.6K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
7.6K
Translation01:31

Translation

14.8K
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...
14.8K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Striatal neuron dysfunction in C9ORF72-FTD/ALS is driven by AIS and potassium channel dysregulation.

Cell reports·2026
Same author

ProMeta: a meta-learning framework for robust disease diagnosis and prediction from plasma proteomics.

Bioinformatics (Oxford, England)·2026
Same author

Co-clinical CT radiomics pipeline to establish candidate imaging biomarkers for colorectal cancer.

European journal of radiology·2026
Same author

Unravelling the Significance of Cystatin C and Bunina Bodies in Amyotrophic Lateral Sclerosis Pathogenesis.

Neuropathology and applied neurobiology·2026
Same author

STMN2 protein depletion via translation deficits and stress granules in amyotrophic lateral sclerosis.

Brain : a journal of neurology·2026
Same author

Multi-omic analysis of deep learning-derived phenotypes links ophthalmic imaging to cardiovascular and neurological traits.

Nature cardiovascular research·2026

Related Experiment Video

Updated: Jun 25, 2025

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

2.6K

Non-coding genome contribution to ALS.

Tobias Moll1, Calum Harvey1, Elham Alhathli1

  • 1Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom.

International Review of Neurobiology
|May 27, 2024
PubMed
Summary
This summary is machine-generated.

Most amyotrophic lateral sclerosis (ALS) genetic causes remain unknown, likely in the non-coding genome. Cell-specific functional annotation is crucial for discovering these genetic drivers and developing targeted therapies.

Keywords:
Genetic association studyNon-coding genetic variationSingle-cellTBK1

More Related Videos

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
08:53

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on: May 16, 2017

8.7K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.7K

Related Experiment Videos

Last Updated: Jun 25, 2025

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

2.6K
Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
08:53

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on: May 16, 2017

8.7K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.7K

Area of Science:

  • Neurogenetics
  • Genomics
  • Molecular Biology

Background:

  • Amyotrophic lateral sclerosis (ALS) pathogenesis involves complex gene-environment interactions, with a significant heritability component.
  • The genetic underpinnings for the majority of ALS cases remain elusive, hindering targeted genetic therapy development.
  • Emerging evidence suggests that missing genetic risk factors are predominantly located in the non-coding genome.

Purpose of the Study:

  • To review current discoveries of ALS-associated genetic drivers within the non-coding genome.
  • To advocate for enhanced cell-specific annotation of genomic function to advance ALS genetic research.
  • To propose that cell-specific functional annotation will accelerate the discovery of the genetic architecture of ALS.

Main Methods:

  • Review of current literature on non-coding genetic drivers in ALS.
  • Discussion of the necessity for cell-specific genomic functional annotation.
  • Highlighting the utility of single-cell epigenetic profiling and spatial transcriptomics.

Main Results:

  • The non-coding genome harbors significant ALS-associated genetic risk factors.
  • A major challenge is determining the cell-type-specific function of non-coding variants.
  • The TBK1 gene example illustrates how cell-specific effects (coding variants in neurons, non-coding in microglia) resolve apparent paradoxes.

Conclusions:

  • Improved cell-specific functional annotation of the non-coding genome is essential for understanding ALS.
  • Addressing cell-type-specific effects is critical for deciphering the genetic basis of ALS.
  • This approach will accelerate the discovery of genetic drivers in the majority of ALS patients.