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

Exon Recombination02:32

Exon Recombination

4.3K
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...
4.3K
Ribosome Profiling02:24

Ribosome Profiling

4.3K
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...
4.3K
Proteomics01:33

Proteomics

10.2K
A proteome is the entire set of proteins that a cell type produces. We can study proteomes using the knowledge of genomes because genes code for mRNAs, and the mRNAs encode proteins. Although mRNA analysis is a step in the right direction, not all mRNAs are translated into proteins.
Proteomics is the study of proteomes' function. It involves the large-scale systematic study of the proteome to denote the protein complement expressed by a genome. Scientist Mark Wilkins coined the term...
10.2K

You might also read

Related Articles

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

Sort by
Same author

The growth and pathogenesis of <i>Citrobacter rodentium</i> are compromised when multiple mucin sugar utilization pathways are disrupted, leading to accumulation of N-acetylglucosamine 6-phosphate.

Infection and immunity·2026
Same author

Feasibility Trial of Prolonged versus Single-Dose Challenge in Penicillin Allergy.

NEJM evidence·2026
Same author

FoodCHOMP (Food Challenge-at HOme or in Medical Practice): a pilot multicentre randomised controlled trial evaluating home versus clinic-based food allergy challenges in low-risk adults-study protocol.

BMJ open·2026
Same author

Biopsy-derived colonoid air-liquid interface monolayers reveal persistent mucosal defects in ulcerative colitis patients.

Inflammatory bowel diseases·2026
Same author

Cancer cell therapies: global clinical trial trends and emerging directions.

Nature reviews. Drug discovery·2025
Same author

International Network of Antibiotic Allergy Nations (iNAAN): Protocol for a type 2 hybrid effectiveness-implementation multicentre prospective cohort and target trial emulation study evaluating penicillin allergy delabeling via direct oral challenge.

PloS one·2025

Related Experiment Video

Updated: Apr 12, 2026

Genome-wide Analysis using ChIP to Identify Isoform-specific Gene Targets
11:19

Genome-wide Analysis using ChIP to Identify Isoform-specific Gene Targets

Published on: July 7, 2010

15.1K

Proteogenomic Analysis Identifies a Novel Human SHANK3 Isoform.

Fahad Benthani1,2, Phuong N Tran3, Nicola Currey4

  • 1The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia. f.benthani@garvan.org.au.

International Journal of Molecular Sciences
|May 22, 2015
PubMed
Summary

Researchers discovered a new, long SHANK3 protein isoform in humans, not previously predicted by the genome. This finding, along with a novel interaction with the Mutated in colorectal cancer (MCC) protein, offers insights into autism spectrum disorder and neuronal function.

Keywords:
MCCSHANK3proteogenomic

More Related Videos

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

6.6K
Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts
11:19

Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts

Published on: October 9, 2016

15.7K

Related Experiment Videos

Last Updated: Apr 12, 2026

Genome-wide Analysis using ChIP to Identify Isoform-specific Gene Targets
11:19

Genome-wide Analysis using ChIP to Identify Isoform-specific Gene Targets

Published on: July 7, 2010

15.1K
Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

6.6K
Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts
11:19

Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts

Published on: October 9, 2016

15.7K

Area of Science:

  • Neuroscience
  • Genomics
  • Proteomics

Background:

  • SHANK3 gene mutations are linked to autism spectrum disorder (ASD).
  • Transcriptional diversity of SHANK3 contributes to varied cognitive impairments in individuals with ASD.
  • The human reference genome may not fully capture all protein isoforms.

Purpose of the Study:

  • To identify novel protein interactions involving SHANK3.
  • To discover new SHANK3 protein isoforms.
  • To explore the role of the Mutated in colorectal cancer (MCC) protein in neuronal contexts.

Main Methods:

  • Proteogenomic analysis of human colon cancer cells and mouse brain tissue.
  • Identification and characterization of novel protein isoforms.
  • Investigation of protein-protein interactions.

Main Results:

  • A novel, long isoform of the SHANK3 protein was identified, not present in the human reference genome.
  • A new interaction between the Mutated in colorectal cancer (MCC) protein and this SHANK3 isoform was discovered.
  • Proteomic data proved valuable for re-annotating GC-rich genomic regions.

Conclusions:

  • A new human SHANK3 long isoform has been identified.
  • A potential new role for MCC protein in neurons is suggested.
  • Proteogenomic approaches are effective for genomic re-annotation, especially in complex regions.