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

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

3.7K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
3.7K
Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

8.5K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
8.5K
Translation01:31

Translation

16.8K
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...
16.8K
Anatomy of the Eyeball01:20

Anatomy of the Eyeball

8.6K
The eye is a spherical, hollow structure composed of three tissue layers. The outer layer — the fibrous tunic, comprises the sclera — a white structure — and the cornea, which is transparent. The sclera encompasses some of the ocular surface, most of which is not visible. However, the 'white of the eye' is distinctively visible in humans compared to other species. The cornea, a clear covering at the front of the eye, enables light penetration. The eye's middle...
8.6K
Alternative RNA Splicing02:18

Alternative RNA Splicing

20.5K
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...
20.5K

You might also read

Related Articles

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

Sort by
Same author

Adapting developmental science for a world of diverse families.

The Behavioral and brain sciences·2026
Same author

De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.

Genome medicine·2026
Same author

Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesis.

HGG advances·2026
Same author

Challenges and recommendations in establishing national human diversity genomic projects.

Nature methods·2026
Same author

Interdisciplinary vascular genetics evaluations in routine clinical care: insights from a five-year single-center experience.

Langenbeck's archives of surgery·2026
Same author

Magel2 deficiency promotes cardiac remodeling and increases arrhythmogenic susceptibility in a mouse model relevant to Prader-Willi and Schaaf-Yang syndromes.

Clinical science (London, England : 1979)·2026

Related Experiment Video

Updated: May 3, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
08:17

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

19.0K

NR2F1 mutations cause optic atrophy with intellectual disability.

Daniëlle G M Bosch1, F Nienke Boonstra2, Claudia Gonzaga-Jauregui3

  • 1Department of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Bartiméus, Institute for the Visually Impaired, 3700 BA Zeist, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.

American Journal of Human Genetics
|January 28, 2014
PubMed
Summary

Mutations in the NR2F1 gene disrupt the visual system

More Related Videos

The Rodent Model of Nonarteritic Anterior Ischemic Optic Neuropathy rNAION
06:49

The Rodent Model of Nonarteritic Anterior Ischemic Optic Neuropathy rNAION

Published on: November 20, 2016

8.3K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

36.1K

Related Experiment Videos

Last Updated: May 3, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
08:17

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

19.0K
The Rodent Model of Nonarteritic Anterior Ischemic Optic Neuropathy rNAION
06:49

The Rodent Model of Nonarteritic Anterior Ischemic Optic Neuropathy rNAION

Published on: November 20, 2016

8.3K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

36.1K

Area of Science:

  • Neuroscience
  • Genetics
  • Ophthalmology

Background:

  • Optic nerve atrophy and hypoplasia can stem from primary conditions or secondary trans-synaptic degeneration.
  • Cerebral visual impairment (CVI) is a significant cause of visual dysfunction.

Purpose of the Study:

  • To investigate the genetic basis of optic nerve abnormalities and CVI.
  • To identify the role of NR2F1 (COUP-TFI) in visual system neurodevelopment.

Main Methods:

  • Genetic analysis of six individuals with CVI and/or optic nerve abnormalities.
  • Reporter assays to assess the functional impact of NR2F1 mutations on transcriptional activity.

Main Results:

  • Identified de novo heterozygous missense mutations or deletions in NR2F1 in all affected individuals.
  • Missense mutations in key domains of NR2F1 reduced its transcriptional activity.
  • Affected individuals exhibited mild to moderate intellectual impairment.

Conclusions:

  • NR2F1 mutations are implicated in the development of optic atrophy and CVI.
  • NR2F1 plays a critical role in the neurodevelopment of the human visual system.
  • Disruption of NR2F1 leads to optic nerve abnormalities and intellectual disability.