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 Experiment Videos

Searching for polymorphisms that affect gene expression and mRNA processing: example ABCB1 (MDR1).

Danxin Wang1, Wolfgang Sadée

  • 1Department of Pharmacology, Program in Pharmacogenetics, College of Medicine and Public Health, The Ohio State University, 333 West 10th Ave, Graves Hall 5168, Columbus, OH 43210, USA. wang.808@osu.edu

The AAPS Journal
|October 10, 2006
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Pulmonary Rehabilitation with Airway Clearance Techniques Improves Mucus Hypersecretion and Clinical Outcomes in COPD: A Retrospective Study.

International journal of chronic obstructive pulmonary disease·2026
Same author

Knockdown of RNA editing proteins reshapes the HepaRG transcriptome and pharmacogene expression.

Scientific reports·2026
Same author

Separation-delayed skin flap for diabetic foot repair: a case report and review of the literature.

Journal of medical case reports·2026
Same author

Atorvastatin Protects Against Deleterious Carfilzomib-Induced Transcriptional Changes in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

International journal of molecular sciences·2026
Same author

Integrative Epigenomic and Targeted Protein Analysis in MRONJ: Correlating DNA Methylation with Bone Biomarkers.

International journal of molecular sciences·2025
Same author

Association Between UGT1A1 mRNA Expression and Cis-Acting Genetic Variants and Trans-Acting Transcriptional Regulators in Human Liver Samples.

Genes·2025
Same journal

Updated Recommendations for the Bioanalysis of Antibody-Drug Conjugates (ADC) from the ADC working group of the AAPS Bioanalytical Community.

The AAPS journal·2026
Same journal

In vivo Predictive Dissolution Test Using Biorelevant Bicarbonate Buffer for High-dose Free Acid Drug.

The AAPS journal·2026
Same journal

Whole-Body Pharmacokinetics of Ionizable Lipid, mRNA, and the Expressed Antibody following Intravenous Administration of mRNA-Loaded Lipid Nanoparticles.

The AAPS journal·2026
Same journal

Simple Hydrodynamic Molecular Weight Model for Rapid Assessment of Therapeutic Protein Oligomerization States in Formulation.

The AAPS journal·2026
Same journal

Guiding the Molnupiravir Tablet Formulation Using Physiologically Based Biopharmaceutics Modeling and Successfully Establishing Dissolution Safe Space.

The AAPS journal·2026
Same journal

Correction: Nanotechnology-enhanced Natural Products for Cancer Chemoprevention: Molecular Mechanisms and Clinical Translation.

The AAPS journal·2026
See all related articles

Allelic expression imbalance (AEI) reveals functional cis-acting polymorphisms impacting gene expression. This method identified the ABCB1 C3435T polymorphism, which affects mRNA levels through increased turnover.

Area of Science:

  • Genetics and Genomics
  • Molecular Biology
  • Pharmacogenomics

Background:

  • Cis-acting genetic variations influence mRNA and protein levels and structure.
  • Polymorphisms in transcription and mRNA processing are key contributors to human phenotypic variability.
  • Many functional cis-acting polymorphisms remain undiscovered.

Purpose of the Study:

  • To utilize allelic expression imbalance (AEI) as a quantitative phenotype to identify functional cis-acting polymorphisms.
  • To investigate the functional role and molecular mechanism of the ABCB1 C3435T polymorphism.

Main Methods:

  • Analysis of allele-specific expression (ASE) in liver autopsy samples.
  • In vitro expression experiments.
  • mRNA folding structure prediction using the Mfold program.

Related Experiment Videos

Main Results:

  • AEI analysis identified the ABCB1 C3435T polymorphism as a major functional variant.
  • The C3435T polymorphism accounts for 1.5- to 2-fold changes in ABCB1 mRNA levels.
  • The mechanism involves increased mRNA turnover, potentially due to altered mRNA folding structures.

Conclusions:

  • AEI is a powerful approach for discovering cis-acting polymorphisms that affect gene expression and mRNA processing.
  • The ABCB1 C3435T polymorphism functionally impacts gene expression via altered mRNA turnover.
  • AEI analysis successfully identified functional polymorphisms in other genes like 5-HTT and OPRM1.