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

Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

5.6K
Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
5.6K
Pleiotropy01:33

Pleiotropy

43.9K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.9K
X-linked Traits01:19

X-linked Traits

59.3K
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”.
59.3K
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
Sex-linked Disorders01:43

Sex-linked Disorders

110.4K
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.
110.4K
Pedigree Analysis01:35

Pedigree Analysis

90.4K
Overview
90.4K

You might also read

Related Articles

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

Sort by
Same author

Erratum: Centrality-Dependent Modification of Jet-Production Rates in Deuteron-Gold Collisions at sqrt[s_{NN}]=200  GeV [Phys. Rev. Lett. 116, 122301 (2016)].

Physical review letters·2025
Same author

Development of the Dutch translational knowledge agenda for inherited metabolic diseases.

JIMD reports·2024
Same author

Measurement of Direct-Photon Cross Section and Double-Helicity Asymmetry at sqrt[s]=510  GeV in p[over →]+p[over →] Collisions.

Physical review letters·2023
Same author

A Common Genomic Denominator for Neuroblastoma and Differentiated Thyroid Carcinoma? A Case Series in Children.

Clinical oncology (Royal College of Radiologists (Great Britain))·2022
Same author

Translation initiation factor eIF2Bε promotes Wnt-mediated clonogenicity and global translation in intestinal epithelial cells.

Stem cell research·2021
Same author

Erratum: Evolution of π^{0} Suppression in Au+Au Collisions from sqrt[s_{NN}]=39 to 200 GeV [Phys. Rev. Lett. 109, 152301 (2012)].

Physical review letters·2020

Related Experiment Video

Updated: Mar 15, 2026

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

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

C Maxit1, I Denzler2, D Marchione1

  • 1Department of Child Neurology, Hospital Italiano de Buenos Aires (HIBA), Buenos Aires, Argentina.

JIMD Reports
|August 26, 2016
PubMed
Summary

Peroxisome biogenesis disorders (PBDs) can present with varying severity. This study identifies novel PEX3 gene mutations in a patient with a milder PBD phenotype, expanding the known PEX3 defect disease spectrum.

Keywords:
PEX3Peroxisomal disordersZellweger spectrum disorders

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K
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

Related Experiment Videos

Last Updated: Mar 15, 2026

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 Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K
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

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Peroxisome biogenesis disorders (PBDs) are inherited conditions affecting peroxisome formation.
  • PBDs result from mutations in PEX genes, crucial for peroxisome assembly.
  • Clinical presentations of PBDs range from severe, lethal forms to milder, progressive phenotypes.

Purpose of the Study:

  • To report a case of PBDs caused by novel mutations in the PEX3 gene.
  • To investigate the phenotypic spectrum associated with PEX3 gene defects.

Main Methods:

  • Biochemical analysis of peroxisomal parameters.
  • Genetic sequencing of the PEX3 gene.

Main Results:

  • The patient exhibited mild biochemical abnormalities consistent with a Zellweger spectrum disorder.
  • Two novel heterozygous, pathogenic mutations in the PEX3 gene were identified in the patient.
  • The patient presented with a less severe phenotype than typically observed for PEX3 defects.

Conclusions:

  • Mutations in PEX3 are usually associated with severe, early-lethal PBDs.
  • This case demonstrates that PEX3 defects can lead to a broader disease spectrum.
  • The findings suggest PEX3 mutations contribute to a variable clinical presentation similar to other PEX gene defects.