Related Experiment Video
Updated: Jul 9, 2026

RIBO-seq in Bacteria: a Sample Collection and Library Preparation Protocol for NGS Sequencing
Published on: August 7, 2021
Illuminating ribosome biogenesis disorders through structural biology
Sameer Singh1, Denis L J Lafontaine2
1Institute of Medical Physics and Biophysics, Charité - Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Ribosome biogenesis is crucial for cell function and linked to diseases like cancer and ribosomopathies. Structural biology reveals how defects in ribosome production cause these disorders.
Area of Science:
- Molecular Biology
- Structural Biology
- Genetics
Background:
- Ribosomes synthesize proteins, and their production (ribosome biogenesis) is complex.
- Defects in ribosome biogenesis cause diseases (ribosomopathies), often affecting blood, brain, and bones.
- The tissue-specific nature of ribosomopathies is not well understood.
Purpose of the Study:
- To review how structural biology advances illuminate the molecular basis of ribosomopathies.
- To connect structural insights of precursor ribosomes to disease mechanisms.
Main Methods:
- Review of recent structural biology studies on precursor ribosomes.
- Analysis of pathogenic variants in ribosomal proteins and assembly factors.
Main Results:
- High-resolution structures of precursor ribosomes provide insights into maturation.
- Pathogenic variants disrupt critical molecular interactions during ribosome assembly.
- Structural data begins to explain the molecular basis of certain ribosomopathies.
Conclusions:
- Structural biology is key to understanding the molecular mechanisms underlying ribosomopathies.
- Insights into ribosome assembly defects can inform disease understanding and potential therapies.
Related Concept Videos
Ribosome Profiling
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...
Translation
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
Translation
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
Ribosomal RNA Synthesis
Ribosome biogenesis begins with the synthesis of 5S and 45S pre-rRNAs by distinct RNA polymerases. The primary transcripts are extensively processed and modified before they are bound and folded by ribosomal proteins and assembly factors,...
Ribosomal RNA Synthesis
Ribosome biogenesis begins with the synthesis of 5S and 45S pre-rRNAs by distinct RNA polymerases. The primary transcripts are extensively processed and modified before they are bound and folded by ribosomal proteins and assembly factors,...
The Nucleolus

