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

Trihybrid Crosses02:27

Trihybrid Crosses

Trihybrid Crosses
Some of Mendel’s crosses examined three pairs of contrasting characteristics. Such a cross is called a trihybrid cross. A trihybrid cross is a combination of three individual monohybrid crosses. For example, plant height (tall vs. short), seed shape (round vs. wrinkled), and seed color (yellow vs. green).
The F1 generation plants of a trihybrid cross are heterozygous for all three traits and produce eight gametes. Upon self-fertilization, these gametes have an equal chance to...
X-linked Traits01:19

X-linked Traits

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”.
X-linked Traits01:19

X-linked Traits

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”.
Genetic Lingo01:11

Genetic Lingo

Overview
Pleiotropy01:33

Pleiotropy

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,...
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...

You might also read

Related Articles

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

Sort by
Same author

Functional characterization of a biallelic <i>MIPEP</i> variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotonia.

Molecular genetics and metabolism reports·2026
Same author

Allele-specific antisense oligonucleotide treatment rescues <i>atad3-</i>associated phenotype in zebrafish.

bioRxiv : the preprint server for biology·2026
Same author

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Neurology·2026
Same author

Ovarian central nervous system-type tumors: integrated neuropathological and methylation-based classification reveals site-related features.

Acta neuropathologica communications·2026
Same author

Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease.

HGG advances·2026
Same author

Neurological manifestations and genotype-phenotype correlations in <i>NDUFAF6</i>-associated mitochondrial disease.

Brain communications·2026

Related Experiment Video

Updated: May 28, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Toward genotype phenotype correlations in GFM1 mutations.

Louise Galmiche1, Valérie Serre, Marine Beinat

  • 1Department of Genetics, Hôpital Necker-Enfants Malades, Université Paris Descartes and INSERM U781, 149 rue de Sèvres, 75015 Paris, France.

Mitochondrion
|October 12, 2011
PubMed
Summary

Two novel GFM1 mutations were identified in patients with mitochondrial diseases, causing encephalopathy and liver failure. These findings highlight GFM1

More Related Videos

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

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

Related Experiment Videos

Last Updated: May 28, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

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

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Mitochondrial diseases are often caused by respiratory chain deficiencies.
  • Mitochondrial translation is crucial for cellular energy production.

Observation:

  • Two unrelated patients presented with severe clinical symptoms, including encephalopathy and liver failure.
  • Both patients exhibited Complex IV deficiency in muscle tissue.
  • Brain MRI revealed structural abnormalities consistent with mitochondrial translation deficiencies.

Findings:

  • Novel homozygous mutations in the GFM1 gene (R671C and L398P) were identified in the two patients.
  • GFM1 encodes the mitochondrial translation factor EFG1.
  • Structural modeling suggested that the mutations destabilize the EFG1 protein.

Implications:

  • These findings expand the known spectrum of GFM1-related mitochondrial disorders.
  • The location of GFM1 mutations may correlate with specific clinical presentations.
  • This study provides insights into the molecular mechanisms underlying GFM1-associated diseases.