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

Sex-linked Disorders01:43

Sex-linked Disorders

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.
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”.
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Exon Recombination02:32

Exon Recombination

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 has three reading...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...

You might also read

Related Articles

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

Sort by
Same author

Photochemistry of CryB from Rhodobacter sphaeroides.

Photochemistry and photobiology·2026
Same author

Optically detected and radio wave-controlled spin chemistry in flavoproteins.

Nature biotechnology·2026
Same author

High frequency of the HLA-G*01:05N null allele in Beninese populations and its potential impact on reduced soluble HLA-G expression.

Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases·2026
Same author

Pretreatment blood NfL indicates response to cellular therapies in cerebral adrenoleukodystrophy.

Communications medicine·2026
Same author

Simultaneous Study of Circular RNAs and Messenger RNAs in Colorectal Cancer: The Unbalanced Fate of a Couple?

Cancers·2026
Same author

A fast GC-MS/MS method for the simultaneous measurement of key metabolites of peroxisomal beta-oxidation and ether lipid biosynthesis in human fibroblasts.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences·2025

Related Experiment Video

Updated: May 25, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy.

Mathieu Barbier1, Audrey Sabbagh, Edwige Kasper

  • 1UMR 745, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris Descartes, Sorbonne Paris Cité, Paris, France. mathieu.barbier@inserm.fr

Plos One
|January 19, 2012
PubMed
Summary

Genetic variants in CD1 genes do not significantly explain the varied symptoms of X-linked adrenoleukodystrophy (X-ALD). While one SNP showed a preliminary link, further research is needed, suggesting other factors influence X-ALD phenotypes.

More Related Videos

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

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Related Experiment Videos

Last Updated: May 25, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

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

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Area of Science:

  • Genetics
  • Immunology
  • Neuroscience

Background:

  • X-linked adrenoleukodystrophy (X-ALD) presents diverse phenotypes, from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD).
  • ABCD1 gene mutations cause X-ALD, but genotype-phenotype correlations are unclear, with suspected involvement of modifier genes.
  • Accumulation of very long-chain fatty acids in X-ALD patients is linked to neuroinflammation, particularly in CCALD.

Purpose of the Study:

  • To investigate the potential role of CD1 gene variants in modulating X-ALD phenotypes.
  • To determine if genetic variations within the CD1 locus contribute to the phenotypic variability observed in X-ALD patients.

Main Methods:

  • Association study analyzing 23 tag SNPs across the CD1 locus.
  • Genotyping performed on DNA from 52 AMN patients and 87 CCALD patients.
  • Statistical analysis, including chi-squared tests and Bonferroni correction, to assess SNP associations with X-ALD phenotypes.

Main Results:

  • A significant association was found between the minor allele of rs973742 (near CD1D) and AMN patients (P=0.006).
  • This association lost statistical significance after Bonferroni correction for multiple testing.
  • No other significant associations were identified between CD1 locus polymorphisms and X-ALD phenotypes, including further CD1D analysis.

Conclusions:

  • Genetic variants within the CD1 gene locus do not appear to be major contributors to the phenotypic variance in X-ALD.
  • The preliminary association of rs973742 warrants further investigation but does not currently establish a strong link.
  • The study suggests that other genetic or environmental factors likely play a more significant role in determining X-ALD phenotypes.