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Epistasis01:39

Epistasis

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...
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

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...
Dosage Compensation02:50

Dosage Compensation

In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with  distinct numbers of X chromosomes will have...
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...
Transducer Mechanism: Nuclear Receptors01:31

Transducer Mechanism: Nuclear Receptors

Nuclear receptors, or NRs, are unique transcription factors that regulate gene transcription and affect the cellular pathways involved in reproduction, development, or metabolism. Their ability to be stimulated by small lipophilic ligands and control vital cellular processes makes them ideal drug targets. Nearly 10-15% of currently prescribed drugs target these receptors.
About 48 different soluble family members of nuclear receptors are identified that can be divided into two main classes:
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...

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Related Experiment Video

Updated: Jul 15, 2026

Detection of Signaling Effector-Complexes Downstream of BMP4 Using in situ PLA, a Proximity Ligation Assay
12:52

Detection of Signaling Effector-Complexes Downstream of BMP4 Using in situ PLA, a Proximity Ligation Assay

Published on: March 4, 2011

A third genetic locus affecting the Ah (dioxin) receptor.

S O Karenlampi1, C Legraverend, J M Gudas

  • 1Laboratory of Biomedical and Environmental Sciences, School of Public Health, University of California, Los Angeles 90024.

The Journal of Biological Chemistry
|July 25, 1988
PubMed
Summary

A new mouse cell clone, c35, resistant to benzo(a)pyrene, shows no induction of cytochrome P1-450 mRNA or aryl hydrocarbon hydroxylase (AHH) activity. This resistance is linked to defects in the dioxin (Ah) receptor pathway.

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DNA-affinity-purified Chip (DAP-chip) Method to Determine Gene Targets for Bacterial Two component Regulatory Systems
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DNA-affinity-purified Chip (DAP-chip) Method to Determine Gene Targets for Bacterial Two component Regulatory Systems

Published on: July 21, 2014

The Lambda Select cII Mutation Detection System
07:08

The Lambda Select cII Mutation Detection System

Published on: April 26, 2018

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Last Updated: Jul 15, 2026

Detection of Signaling Effector-Complexes Downstream of BMP4 Using in situ PLA, a Proximity Ligation Assay
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Detection of Signaling Effector-Complexes Downstream of BMP4 Using in situ PLA, a Proximity Ligation Assay

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DNA-affinity-purified Chip (DAP-chip) Method to Determine Gene Targets for Bacterial Two component Regulatory Systems
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DNA-affinity-purified Chip (DAP-chip) Method to Determine Gene Targets for Bacterial Two component Regulatory Systems

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The Lambda Select cII Mutation Detection System
07:08

The Lambda Select cII Mutation Detection System

Published on: April 26, 2018

Area of Science:

  • Biochemistry
  • Molecular Biology
  • Toxicology

Background:

  • The aryl hydrocarbon receptor (AhR) pathway mediates the toxic effects of environmental pollutants like dioxin.
  • Understanding mutations in this pathway is crucial for assessing toxicological risks and developing countermeasures.

Purpose of the Study:

  • To characterize a newly isolated benzo(a)pyrene-resistant mouse hepatoma cell line (c35).
  • To investigate the molecular basis of resistance to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) in the c35 clone and its subclone c35-1.

Main Methods:

  • Isolation and characterization of benzo(a)pyrene-resistant cell lines.
  • Measurement of cytochrome P1-450 mRNA levels and aryl hydrocarbon hydroxylase (AHH) activity.
  • Scatchard analysis to assess dioxin (Ah) receptor levels and affinity.
  • In vivo assays for receptor function.
  • Somatic cell hybridization to determine complementation groups.

Main Results:

  • The c35 clone lacks inducible P1-450 mRNA and AHH activity in response to TCDD.
  • Subclone c35-1 exhibits partially restored AHH inducibility but requires 16-fold higher dioxin concentrations.
  • c35-1 has reduced levels of the Ah receptor, with unaltered affinity but impaired nuclear translocation.
  • Somatic cell hybridization indicates c35 is a recessive mutant in a new complementation group.

Conclusions:

  • The c35 mutation affects the dioxin (Ah) receptor pathway, likely impacting receptor function, nuclear translocation, or DNA binding.
  • Partial reversion in c35-1 suggests a defect in a polypeptide crucial for receptor-mediated gene induction.
  • These findings provide insights into the molecular mechanisms of Ah receptor regulation and dioxin toxicity.