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

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

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

81
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...
81
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

14.4K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
14.4K
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

157
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...
157
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

11.5K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
11.5K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

137
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
137
Replication in Eukaryotes01:29

Replication in Eukaryotes

15.2K
In eukaryotic cells, DNA replication is highly conserved and tightly regulated. Multiple linear chromosomes must be duplicated with high fidelity before cell division, so there are many proteins that fulfill specialized roles in the replication process. Replication occurs in three phases: initiation, elongation, and termination, and ends with two complete sets of chromosomes in the nucleus.
Many Proteins Orchestrate Replication at the Origin
Eukaryotic replication follows many of the same...
15.2K

You might also read

Related Articles

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

Sort by
Same author

Acute Aerobic Exercise Induces Short-Term Reductions in Ambulatory Blood Pressure in Patients With Hypertension: A Systematic Review and Meta-Analysis.

Hypertension (Dallas, Tex. : 1979)·2021
Same author

The Second Wind in McArdle Patients: Fitness Matters.

Frontiers in physiology·2021
Same author

Mortality Risk from Neurodegenerative Disease in Sports Associated with Repetitive Head Impacts: Preliminary Findings from a Systematic Review and Meta-Analysis.

Sports medicine (Auckland, N.Z.)·2021
Same author

Exercise interventions in Alzheimer's disease: A systematic review and meta-analysis of randomized controlled trials.

Ageing research reviews·2021
Same author

Durability and repeatability of professional cyclists during a Grand Tour.

European journal of sport science·2021
Same author

Effects of Combining a Ketogenic Diet with Resistance Training on Body Composition, Strength, and Mechanical Power in Trained Individuals: A Narrative Review.

Nutrients·2021

Related Experiment Video

Updated: Apr 28, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

11.7K

PTK2 rs7460 and rs7843014 polymorphisms and exceptional longevity: a functional replication study.

Nuria Garatachea1, Noriyuki Fuku, Zi-Hong He

  • 11 Faculty of Health and Sport Science, University of Zaragoza , Huesca, Spain .

Rejuvenation Research
|June 17, 2014
PubMed
Summary

Investigating the focal adhesion kinase (FAK) gene, this study found specific genotypes (rs7460 TT and rs7843014 CC) associated with exceptional longevity in the Spanish population. These genotypes may indicate lower FAK gene expression, potentially influencing aging rates.

More Related Videos

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

9.2K
A Suppressor Screen for the Characterization of Genetic Links Regulating Chronological Lifespan in Saccharomyces cerevisiae
10:39

A Suppressor Screen for the Characterization of Genetic Links Regulating Chronological Lifespan in Saccharomyces cerevisiae

Published on: September 17, 2020

6.1K

Related Experiment Videos

Last Updated: Apr 28, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

11.7K
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

9.2K
A Suppressor Screen for the Characterization of Genetic Links Regulating Chronological Lifespan in Saccharomyces cerevisiae
10:39

A Suppressor Screen for the Characterization of Genetic Links Regulating Chronological Lifespan in Saccharomyces cerevisiae

Published on: September 17, 2020

6.1K

Area of Science:

  • Genetics
  • Gerontology
  • Molecular Biology

Background:

  • Focal adhesion kinase (FAK, PTK2) is crucial for cell survival and a potential longevity-related protein.
  • Single-nucleotide polymorphisms (SNPs) in longevity-related genes are investigated for their association with exceptional longevity (EL).

Purpose of the Study:

  • To examine the association between two PTK2 gene SNPs (rs7843014, rs7460) and exceptional longevity in Spanish, Italian, and Japanese populations.
  • To understand the functional significance of these SNPs on FAK gene expression.

Main Methods:

  • Genotyping of PTK2 SNPs rs7843014 and rs7460 in Spanish, Italian, and Japanese centenarian cohorts and their respective controls.
  • Luciferase gene reporter assays to assess the functional impact of SNP alleles on gene expression.

Main Results:

  • The A allele of both SNPs demonstrated higher luciferase activity, suggesting increased gene expression.
  • In the Spanish cohort, the A allele was negatively associated with EL, while the TT genotype (rs7460) and CC genotype (rs7843014) were positively associated with EL.
  • No significant associations were found in the Italian or Japanese cohorts.

Conclusions:

  • Specific FAK gene genotypes (rs7460 TT and rs7843014 CC) may be associated with lower gene expression and increased likelihood of exceptional longevity in the Spanish population.
  • Further research is warranted to elucidate the precise mechanisms linking FAK expression to aging processes.