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

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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...
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,...
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.

You might also read

Related Articles

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

Sort by
Same author

Quantitative Relationship Between White Matter Hyperintensity Volume and Fazekas Score on Brain MRI.

Stroke·2026
Same author

Global Socioeconomic Context and Brain Ageing in Epilepsy: an ENIGMA-Epilepsy study.

medRxiv : the preprint server for health sciences·2026
Same author

Incidental DWI-Positive Lesions in 2 Cohorts of CAA and CADASIL: Prevalence, Distribution, and Associations With Clinical Variables.

Neurology·2026
Same author

Biomarkers for advancing diagnosis and prognosis in stroke.

The Lancet. Neurology·2026
Same author

Protocol of the randomized double blind sham controlled AddVNS study of transcutaneous vagus nerve stimulation mechanisms in depression.

Scientific reports·2026
Same author

Understanding pre-training data effects in retinal foundation models using two large fundus cohorts.

Nature communications·2026

Related Experiment Video

Updated: May 9, 2026

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

Functional coding variants in SLC6A15, a possible risk gene for major depression.

Carina Quast1, Serena Cuboni, Daniel Bader

  • 1Max Planck Institute of Psychiatry, Munich, Germany. quast@mpipsykl.mpg.de

Plos One
|July 23, 2013
PubMed
Summary

Genetic variants in SLC6A15 may alter amino acid transporter function, potentially influencing neuronal activity and the risk for major depressive disorder. Functional studies revealed two rare variants impacting transporter uptake.

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

Related Experiment Videos

Last Updated: May 9, 2026

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

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

Area of Science:

  • Neuroscience
  • Genetics
  • Psychiatry

Background:

  • SLC6A15 encodes a neuron-specific neutral amino acid transporter.
  • The solute carrier 6 gene family is crucial for neurotransmitter re-uptake.
  • Evidence suggests SLC6A15 involvement in major depressive disorder (MDD).

Purpose of the Study:

  • Investigate functional genetic variants in SLC6A15.
  • Assess the impact of variants on amino acid transporter activity.
  • Explore the link between SLC6A15 variants and stress-related psychiatric disorders.

Main Methods:

  • Screened DNA from 400 depressed patients and 400 controls for variants using pooled targeted re-sequencing.
  • Verified results via individual re-genotyping and tested validated non-synonymous variants in an independent sample (N=1934).
  • Assessed functional effects of nine coding variants using a cellular uptake assay measuring SLC6A15 transporter activity.

Main Results:

  • Identified 405 genetic variants, including twelve non-synonymous variants.
  • No significant case-control association found for non-synonymous coding variants.
  • Two rare non-synonymous variants significantly increased maximal [3H]proline uptake compared to wildtype.

Conclusions:

  • Genetic variants in SLC6A15 can alter amino acid transporter activity.
  • Altered transporter function may impact neuronal function and MDD risk.
  • Functional exploration is vital for identifying disease-relevant rare variants.