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Related Concept Videos

Epistasis01:39

Epistasis

50.9K
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...
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Pleiotropy01:33

Pleiotropy

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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,...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

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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...
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Pedigree Analysis01:35

Pedigree Analysis

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Overview
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Epistasis Analysis01:09

Epistasis Analysis

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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...
6.1K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

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

61
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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qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes
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Resolving TYK2 locus genotype-to-phenotype differences in autoimmunity.

Calliope A Dendrou1, Adrian Cortes1,2, Lydia Shipman1

  • 1Oxford Centre for Neuroinflammation, Nuffield Department of Clinical Neurosciences, Division of Clinical Neurology, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.

Science Translational Medicine
|November 4, 2016
PubMed
Summary
This summary is machine-generated.

Genetic variants in tyrosine kinase 2 (TYK2) impact autoimmune diseases. Research identified a protective effect, positioning TYK2 as a potential therapeutic target for autoimmune disorders.

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Area of Science:

  • Genetics
  • Immunology
  • Pharmacology

Background:

  • Thousands of genetic variants are linked to complex diseases, but their biological consequences and clinical applications remain challenging to determine.
  • Conflicting evidence exists regarding the functional impact of genetic variants in the tyrosine kinase 2 (TYK2) gene, hindering its potential as a therapeutic target for autoimmune diseases.

Purpose of the Study:

  • To resolve conflicting evidence on the functional impact of TYK2 gene variants.
  • To evaluate the potential of TYK2 as a therapeutic target for common autoimmune disorders.

Main Methods:

  • Performed genetic meta-analysis across multiple autoimmune disorders.
  • Conducted molecular, cellular, in vivo, and structural functional follow-up studies.
  • Carried out epidemiological studies to assess the impact of TYK2 variants.

Main Results:

  • Identified a protective homozygous effect associated with TYK2 variants.
  • Defined a signaling optimum between autoimmunity and immunodeficiency.
  • Confirmed the association of TYK2 with common autoimmune diseases.

Conclusions:

  • The study resolves conflicting data regarding TYK2 gene variants' functional impact.
  • TYK2 is identified as a potential drug target for specific common autoimmune disorders.
  • A balance in TYK2 signaling is crucial for preventing autoimmunity and immunodeficiency.