Related Experiment Video
Updated: May 14, 2026
09:37
An Integrated Approach for Microprotein Identification and Sequence Analysis
Published on: July 12, 2022
'Cryptic' exons reveal some of their secrets
1is at the FAS Center for Systems Biology , Harvard University , Cambridge , United States jcalarco@fas.harvard.edu.
Elife
|January 30, 2013
Summary
NOVA proteins control which segments of genetic code are included in nerve cell messenger RNA. This regulation affects the final protein amounts, impacting cellular function.
Area of Science:
- Molecular Biology
- Neuroscience
- Genetics
Background:
- Alternative splicing is a key mechanism for generating protein diversity.
- NOVA proteins are essential regulators of RNA processing in the nervous system.
- Dysregulation of RNA splicing is implicated in neurological disorders.
Purpose of the Study:
- To investigate the role of NOVA proteins in regulating cryptic exon inclusion in neuronal cells.
- To understand how NOVA-mediated splicing affects protein abundance.
- To elucidate the molecular mechanisms underlying NOVA protein function in nerve cells.
Main Methods:
- RNA sequencing to identify differentially spliced transcripts.
- Western blotting to quantify protein levels.
- In vitro and in vivo assays to study NOVA protein binding and function.
Main Results:
- NOVA proteins were found to regulate the inclusion of specific cryptic exons in messenger RNA within nerve cells.
- Changes in cryptic exon inclusion directly correlated with altered abundance of the corresponding proteins.
- Specific binding sites for NOVA proteins were identified near regulated cryptic exons.
Conclusions:
- NOVA proteins play a critical role in fine-tuning protein expression through the regulation of cryptic exon splicing in neurons.
- This mechanism provides a layer of post-transcriptional control crucial for neuronal function.
- Understanding NOVA protein activity is vital for potentially targeting splicing defects in neurological diseases.
Related Concept Videos
02:07Organization of Genes
Overview
02:32Exon Recombination
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Exon shuffling follows “splice frame rules.” Each exon has three reading...
02:28Leaky 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...
02:02Cis-regulatory Sequences
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
02:02Cis-regulatory Sequences
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
02:24Ribosome Profiling
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 helps...
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...