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Related Experiment Video

Updated: Jun 24, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor.

Maria Ban1, An Goris, Aslaug R Lorentzen

  • 1Department of Clinical Neuroscience, Addenbrooke's, Hospital, University of Cambridge, Cambridge, UK. mb531@medschl.cam.ac.uk

European Journal of Human Genetics : EJHG
|March 19, 2009
PubMed
Summary

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S-Cdk Initiates DNA Replication02:38

S-Cdk Initiates DNA Replication

The cell cycle is a series of events leading to DNA duplication followed by the division of cell content to form two daughter cells. The cell cycle progresses in four stages—the cell increases in size (gap 1 or G1-phase), duplicates its DNA (synthesis or S-phase), prepares to divide (gap 2 or G2-phase), and divides (mitosis or M-phase).
Two states at the origin of replication
In eukaryotes, the initiation of replication occurs at many sites on the chromosomes, called the origins of replication.

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This summary is machine-generated.

Researchers identified a key gene variant, rs34536443 in the tyrosine kinase 2 (TYK2) gene, associated with multiple sclerosis (MS) susceptibility. This finding offers new insights into MS pathogenesis and potential therapeutic targets.

Area of Science:

  • Genetics
  • Immunology
  • Neurology

Background:

  • Genome-wide association studies (GWAS) are crucial for identifying genetic factors influencing complex diseases.
  • Previous GWAS identified candidate susceptibility genes for multiple sclerosis (MS).

Purpose of the Study:

  • To perform an extended analysis of 17 candidate MS susceptibility loci identified in a prior GWAS.
  • To validate and strengthen the association signals for these candidate MS genes.

Main Methods:

  • Utilized a large cohort including 4234 MS patients, 2983 controls, and 2053 trio families for extended genetic analysis.
  • Focused on 17 specific genetic loci, including single nucleotide polymorphisms (SNPs).
  • Performed statistical analysis to assess the association between genetic variants and MS risk.

Related Experiment Videos

Last Updated: Jun 24, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Main Results:

  • Significantly increased evidence of association was found for the rs34536443 single nucleotide polymorphism (SNP) in the tyrosine kinase 2 (TYK2) gene (P=2.7 x 10(-6)).
  • The rs34536443 SNP, an amino acid substitution (proline to alanine) in the TYK2 kinase domain, showed an odds ratio of 1.32.
  • This variant is predicted to affect TYK2 protein phosphorylation and activity, suggesting a functional role in MS.

Conclusions:

  • The rs34536443 variant in the TYK2 gene is strongly associated with multiple sclerosis susceptibility.
  • The identified functional variant in TYK2 provides a potential mechanism contributing to MS pathogenesis.
  • This finding highlights TYK2 as a significant genetic factor in MS and a potential therapeutic target.