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

Pleiotropy01:33

Pleiotropy

42.0K
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,...
42.0K
Epistasis Analysis01:09

Epistasis Analysis

5.4K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.4K
Epistasis01:39

Epistasis

48.5K
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
48.5K
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

7.0K
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...
7.0K
Elastin is Responsible for Tissue Elasticity01:12

Elastin is Responsible for Tissue Elasticity

2.7K
Elastic fiber contains the protein elastin along with lesser amounts of other proteins and glycoproteins. The main property of elastin is that it will return to its original shape after being stretched or compressed. Elastic fibers are prominent in elastic tissues found in skin and the elastic ligaments of the vertebral column.
Ligaments and tendons are made of dense regular connective tissue, but in ligaments not all fibers are parallel. Dense regular elastic tissue contains elastin fibers and...
2.7K
Genetic Lingo01:11

Genetic Lingo

109.3K
Overview
109.3K

You might also read

Related Articles

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

Sort by
Same author

Reply to "Clinical Value of Aneurysm Wall Enhancement in Unruptured Intracranial Aneurysm".

Annals of neurology·2026
Same author

Usefulness of PPi levels to interpret variants of unknown significance and incomplete penetrant alleles in the ABCC6 gene.

Clinica chimica acta; international journal of clinical chemistry·2026
Same author

Association of glomerular hyperfiltration with mortality in stroke: an analysis using pooled individual patient data.

European stroke journal·2026
Same author

MYH11 variants in thoracic aortic aneurysm pathophysiology: From bench to bedside.

European journal of clinical investigation·2026
Same author

Imaging Modalities to Visualize Deep Cerebral Perforating Arteries: A Systematic Review and Meta-analysis.

AJNR. American journal of neuroradiology·2026
Same author

Prediction and risk evaluation of delirium after surgery in older patients: development and internal validation of an algorithm from the prospective BioCog cohort study.

British journal of anaesthesia·2026
Same journal

Optimized flow cytometry assay for functional characterization of variants of uncertain significance in familial hypercholesterolemia.

Atherosclerosis·2026
Same journal

Causal insights of modifiable cardiovascular risk factors for dementia risk - potential for efficient prevention and improved brain health.

Atherosclerosis·2026
Same journal

Serial OCT-based coronary physiology and plaque composition in vessels with nonobstructive coronary lesions following intensive lipid-lowering therapy: YELLOW III sub-study.

Atherosclerosis·2026
Same journal

Earliest age to detect lifetime cardiometabolic health stratification in children.

Atherosclerosis·2026
Same journal

Sympathetic neurons exacerbate atherosclerosis by modulating macrophage function via the NPY/Y1R axis.

Atherosclerosis·2026
Same journal

Optimizing lipoprotein(a) testing for immediate clinical impact in primary prevention.

Atherosclerosis·2026
See all related articles

Related Experiment Video

Updated: Nov 10, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.4K

Genotype-phenotype correlation in pseudoxanthoma elasticum.

Jonas W Bartstra1, Sara Risseeuw2, Pim A de Jong1

  • 1Department of Radiology, University Medical Center Utrecht, Utrecht University, the Netherlands.

Atherosclerosis
|April 3, 2021
PubMed
Summary
This summary is machine-generated.

Pseudoxanthoma elasticum (PXE) patients with a mixed ABCC6 genotype show reduced arterial calcification and fewer eye complications compared to those with two truncating variants. This suggests genotype influences PXE severity.

Keywords:
ABCC6Arterial calcificationChoroidal neovascularizationGenotype-phenotypePeripheral arterial diseasePseudoxanthoma elasticum

More Related Videos

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering
09:43

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering

Published on: November 22, 2019

6.5K
Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

10.7K

Related Experiment Videos

Last Updated: Nov 10, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.4K
Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering
09:43

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering

Published on: November 22, 2019

6.5K
Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

10.7K

Area of Science:

  • Genetics and Molecular Biology
  • Medical Research
  • Ophthalmology

Background:

  • Pseudoxanthoma elasticum (PXE) is a genetic disorder caused by variants in the ABCC6 gene.
  • PXE leads to calcification in skin, arteries, and eyes, exhibiting significant variability in clinical presentation.
  • The relationship between specific ABCC6 genotypes and the manifestation of PXE phenotypes remains incompletely understood.

Purpose of the Study:

  • To investigate the association between ABCC6 gene variants and the severity of calcification and clinical phenotypes in PXE patients.
  • To analyze genotype-phenotype correlations across different organs affected by PXE, including skin, arteries, and eyes.

Main Methods:

  • ABCC6 gene sequencing was conducted on 289 PXE patients, categorizing genotypes into two truncating, mixed, or two non-truncating variants.
  • Arterial calcification was quantified using low-dose CT scans, and peripheral arterial disease was assessed via ankle-brachial index.
  • Ophthalmological assessments included angioid streak length, choroidal neovascularization presence, macular atrophy, and visual acuity.

Main Results:

  • Patients with a mixed genotype (n=96) exhibited significantly lower peripheral and total arterial calcification mass scores compared to those with two truncating variants (n=158).
  • The mixed genotype was associated with a reduced prevalence of choroidal neovascularizations (OR: 0.41) compared to the two truncating variant group.
  • No significant association was found between ABCC6 genotype and the presence of pseudoxanthomas in the skin.

Conclusions:

  • PXE patients with a mixed ABCC6 genotype demonstrate less severe arterial and ophthalmological phenotypes than those with two truncating variants.
  • These findings highlight the influence of specific ABCC6 genotypes on PXE disease manifestation.
  • Further research into genetic and environmental modifiers is warranted to explain the observed phenotypic variability in PXE.