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Related Concept Videos

RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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...
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...

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Related Experiment Video

Updated: Jun 23, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Complement receptor 2 polymorphisms associated with systemic lupus erythematosus modulate alternative splicing.

K B Douglas1, D C Windels, J Zhao

  • 1University of Colorado Denver School of Medicine, Aurora, CO 80045, USA.

Genes and Immunity
|April 24, 2009
PubMed
Summary
This summary is machine-generated.

Genetic variants in the complement receptor 2 (CR2) gene are linked to reduced systemic lupus erythematosus (SLE) risk. These CR2 SNPs affect gene splicing, influencing immune responses in SLE pathogenesis.

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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
11:48

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

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Last Updated: Jun 23, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
11:48

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

Area of Science:

  • Immunogenetics
  • Molecular genetics
  • Rheumatology

Background:

  • Genetic factors significantly contribute to systemic lupus erythematosus (SLE) susceptibility.
  • Previous studies suggested a link between single-nucleotide polymorphisms (SNPs) in the complement receptor 2 (CR2/CD21) gene and SLE risk.

Purpose of the Study:

  • To confirm the association between CR2 gene SNPs and SLE in a European-derived population.
  • To investigate the functional impact of identified CR2 SNPs on gene splicing and their role in SLE pathogenesis.

Main Methods:

  • Case-control study involving 2084 SLE patients and 2853 healthy controls.
  • Haplotype analysis of CR2 SNPs.
  • In vitro and ex vivo evaluation of SNP effects on alternative splicing.

Main Results:

  • A specific CR2 haplotype (rs1048971, rs17615, rs4308977 minor alleles) was significantly associated with decreased SLE risk (P=0.016, OR=0.90).
  • SNPs located in or near alternatively spliced exon 10 and in exon 11 demonstrated reduced splicing efficiency of exon 11.
  • These effects were observed both in vitro and ex vivo.

Conclusions:

  • The study reinforces the role of CR2 in SLE pathogenesis.
  • CR2 genetic variants may influence the maintenance of immune tolerance and autoantibody production by affecting B cell and follicular dendritic cell interactions.