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

Translation01:31

Translation

16.1K
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...
16.1K
Leaky Scanning02:28

Leaky Scanning

5.3K
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...
5.3K
Improving Translational Accuracy02:07

Improving Translational Accuracy

12.0K
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...
12.0K
Riboswitches01:56

Riboswitches

8.8K
Riboswitches are non-coding mRNA domains that regulate the transcription and translation of downstream genes without the help of proteins. Riboswitches bind directly to a metabolite and can form unique stem-loop or hairpin structures in response to the amount of the metabolite present. They have two distinct regions – a metabolite-binding aptamer and an expression platform.
The aptamer has high specificity for a particular metabolite which allows riboswitches to specifically regulate...
8.8K
Alternative RNA Splicing02:18

Alternative RNA Splicing

21.8K
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.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.8K
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

11.0K
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,...
11.0K

You might also read

Related Articles

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

Sort by
Same author

Focus on the bleeding risk of elderly patients with myelodysplastic syndromes.

Journal of thrombosis and haemostasis : JTH·2026
Same author

High frequency of CD95<sup>+</sup>/CD45RA<sup>-</sup> regulatory T cells defines an immunosuppressive profile associated with MDS progression.

British journal of haematology·2026
Same author

Molecular-Based Ecosystem to Improve Personalized Medicine in Chronic Myelomonocytic Leukemia.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology·2026
Same author

Pseudohyperphosphatemia related to a monoclonal immunoglobulin in a patient with plasma cell leukemia: an analytical interference to be aware of.

Annales de biologie clinique·2026
Same author

Integrated analysis of post-transcriptional regulations reveals insights into acute myeloid leukemia.

Communications biology·2025
Same author

IPSS-M risk and specific sex-associated somatic mutations predict response to ESA therapy in LR-MDS: building a new score.

Blood·2025

Related Experiment Video

Updated: Oct 5, 2025

Measurement of Specific Mycobacterial Mistranslation Rates with Gain-of-function Reporter Systems
06:18

Measurement of Specific Mycobacterial Mistranslation Rates with Gain-of-function Reporter Systems

Published on: April 26, 2019

6.1K

Translation defects in ribosomopathies.

Ismael Boussaid1, Michaela Fontenay

  • 1Université de Paris, Laboratory of excellence for Red blood cells GR-Ex, and Institut Cochin, CNRS UMR 8104, INSERM U1016, Paris, France.

Current Opinion in Hematology
|February 1, 2022
PubMed
Summary

Ribosomopathies, linked to ribosome defects, cause translation issues like reduced rate and fidelity. These conditions lead to translation selectivity, impacting cellular function and offering new therapeutic avenues.

More Related Videos

RIBO-seq in Bacteria: a Sample Collection and Library Preparation Protocol for NGS Sequencing
12:05

RIBO-seq in Bacteria: a Sample Collection and Library Preparation Protocol for NGS Sequencing

Published on: August 7, 2021

8.6K
De novo Identification of Actively Translated Open Reading Frames with Ribosome Profiling Data
08:23

De novo Identification of Actively Translated Open Reading Frames with Ribosome Profiling Data

Published on: February 18, 2022

3.8K

Related Experiment Videos

Last Updated: Oct 5, 2025

Measurement of Specific Mycobacterial Mistranslation Rates with Gain-of-function Reporter Systems
06:18

Measurement of Specific Mycobacterial Mistranslation Rates with Gain-of-function Reporter Systems

Published on: April 26, 2019

6.1K
RIBO-seq in Bacteria: a Sample Collection and Library Preparation Protocol for NGS Sequencing
12:05

RIBO-seq in Bacteria: a Sample Collection and Library Preparation Protocol for NGS Sequencing

Published on: August 7, 2021

8.6K
De novo Identification of Actively Translated Open Reading Frames with Ribosome Profiling Data
08:23

De novo Identification of Actively Translated Open Reading Frames with Ribosome Profiling Data

Published on: February 18, 2022

3.8K

Area of Science:

  • Molecular Biology
  • Genetics
  • Cell Biology

Background:

  • Ribosomopathies arise from genetic defects in ribosome biogenesis, leading to cellular translation abnormalities.
  • These disorders manifest with impaired protein synthesis, affecting cell function and organism development.

Purpose of the Study:

  • To review the mechanisms underlying translation defects in ribosomopathies.
  • To explore how ribosome heterogeneity and p53 activation contribute to disease phenotypes.

Main Methods:

  • Review of current literature on ribosomopathies.
  • Analysis of quantitative techniques for ribosome stoichiometry.
  • Examination of p53's role in nucleolar stress and translation.

Main Results:

  • Ribosome pools can be heterogeneous and decreased, with limited translationally competent ribosomes.
  • Defective ribosome biosynthesis leads to translation selectivity, favoring specific mRNA transcripts.
  • p53 activation, a marker of nucleolar stress, influences cellular translational reprogramming.

Conclusions:

  • Translation selectivity is a hallmark of ribosomopathies, particularly those with erythroid phenotypes.
  • The dual role of p53 in transcriptional and translational regulation presents novel therapeutic opportunities.