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Polymorphisms in the human CC chemokine receptor-3 gene
N Zimmermann1, J A Bernstein, M E Rothenberg
1Division of Pulmonary Medicine, Allergy and Clinical Immunology, Department of Pediatrics, Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Biochimica Et Biophysica Acta
|November 7, 1998
Summary
The human CC chemokine receptor (CCR)-3 gene has several genetic variations, including nucleotide polymorphisms that alter amino acids. These CCR-3 gene variations may influence diseases involving this important receptor.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- CC chemokine receptor (CCR)-3 is a G-protein-coupled receptor (GPCR) crucial for inflammatory cell recruitment in allergies and HIV entry.
- Genetic variations in GPCRs can significantly impact disease susceptibility and manifestation.
Purpose of the Study:
- To investigate the genetic polymorphism of the human CCR-3 gene locus.
- To identify and characterize nucleotide variations within the CCR-3 gene.
Main Methods:
- Single-stranded conformational polymorphism (SSCP) analysis of genomic DNA.
- Sequencing and allele frequency determination of identified polymorphisms.
Main Results:
- Four nucleotide polymorphisms were identified in the CCR-3 gene, with allele frequencies between 0.005 and 0.13.
- Two polymorphisms result in amino acid substitutions, including a non-conservative change at position 275 (arginine to glutamine).
- One polymorphism causes a leucine to proline substitution in the intracellular tail; the most frequent (T51C) is a silent substitution.
Conclusions:
- The human CCR-3 gene harbors multiple genetic variations.
- These CCR-3 polymorphisms may play a role in disease processes mediated by this receptor.