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

22.6K
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...
22.6K
Translation01:31

Translation

161.5K
Lesson: 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...
161.5K
X-linked Traits01:19

X-linked Traits

59.7K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
59.7K
X-linked Traits01:19

X-linked Traits

7.9K
7.9K
Sex-linked Disorders01:43

Sex-linked Disorders

111.6K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
111.6K
Cotranslational Protein Translocation01:20

Cotranslational Protein Translocation

11.0K
Translocation of proteins across membranes is an ancient process that occurs even in bacteria and archaebacteria. In fact, the components of the translocation machinery are still conserved between prokaryotes and eukaryotes.
Sec61 channel partners for cotranslational translocation
During cotranslational translocation, the Sec61 channel partners with the signal recognition particle (SRP), the signal recognition particle receptor (SR), and the ribosomes to transport the nascent polypeptide chain...
11.0K

You might also read

Related Articles

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

Sort by
Same author

Codesigned toolkit for multidisciplinary clinicians caring for children with severe neurological impairment.

Developmental medicine and child neurology·2026
Same author

Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics·2026
Same author

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

American journal of human genetics·2026
Same author

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Nature genetics·2026
Same author

PAARH suppresses Kupffer cell phagocytosis to promote tumor liver metastasis by upregulating CD47.

Cancer cell international·2026
Same journal

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

American journal of human genetics·2026
Same journal

Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

American journal of human genetics·2026
Same journal

Integrative analysis of gastric tissue transcriptomes and gastric cancer GWAS implicates candidate susceptibility genes.

American journal of human genetics·2026
Same journal

A transparent and generalizable deep-learning framework for genomic ancestry prediction.

American journal of human genetics·2026
Same journal

Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome.

American journal of human genetics·2026
Same journal

Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans.

American journal of human genetics·2026
See all related articles

Related Experiment Video

Updated: Apr 7, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Raman Kumar1, Mark A Corbett1, Bregje W M van Bon2

  • 1School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.

American Journal of Human Genetics
|July 14, 2015
PubMed
Summary
This summary is machine-generated.

Mutations in the THOC2 gene disrupt essential mRNA export, causing syndromic intellectual disability (ID) with varied neurological and physical symptoms in affected individuals.

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K
A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
08:27

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome

Published on: May 22, 2019

6.9K

Related Experiment Videos

Last Updated: Apr 7, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K
A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
08:27

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome

Published on: May 22, 2019

6.9K

Area of Science:

  • Molecular Biology
  • Genetics
  • Neuroscience

Background:

  • Messenger RNA (mRNA) export from the nucleus to the cytoplasm is crucial for protein synthesis in eukaryotic cells.
  • This process is highly conserved, and disruptions can lead to genetic disorders due to nuclear mRNA retention.

Observation:

  • Variants in the THOC2 gene, a component of the TREX mRNA-export complex, were identified in individuals with syndromic intellectual disability (ID).
  • Affected individuals exhibited diverse ID, speech delay, obesity, short stature, seizures, and motor impairments.

Findings:

  • Four missense variants in THOC2 were found in four families through X chromosome exome sequencing.
  • Two variants reduced the stability of THOC2 and its TREX complex partners in patient-derived cells.
  • Structural modeling indicated variants affect RNA-binding domains of THOC2, potentially disrupting RNA transport.

Implications:

  • This study links defects in the canonical mRNA export pathway to altered neuronal development and associated comorbidities.
  • Understanding THOC2's role in mRNA export provides insights into the molecular basis of certain genetic intellectual disabilities.