Document Detail


Polymorphisms in the human CC chemokine receptor-3 gene.
MedLine Citation:
PMID:  9804946     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CC chemokine receptor (CCR)-3 is a seven-transmembrane-spanning G-protein-coupled receptor (GPCR) that is involved in the recruitment of inflammatory cells in allergic responses and acts as a co-receptor for entry of HIV into cells. Selected polymorphisms in GPCRs have been shown to have dramatic effects on the manifestation and/or susceptibility to a variety of diseases. In this report, we tested whether the human CCR-3 gene locus is genetically polymorphic. Using single-stranded conformational polymorphism analysis of genomic DNA, the CCR-3 gene is shown to contain four nucleotide polymorphisms with allele frequencies ranging from 0.005 to 0.13. Two polymorphisms encode for an amino acid change. One of these polymorphisms encodes for a non-conservative change of arginine to glutamine at position 275 of the third extracellular loop. Stratification of the DNA samples into a population with asthma suggested no change in this allele's frequency. Another polymorphism encodes for a leucine to proline substitution in the intracellular cytoplasmic tail of CCR-3. The most frequent polymorphism, T51C, occurs in 26% of individuals and encodes for a silent substitution. Thus, CCR-3 contains several genetic variations which may have consequences in disease processes that involve this receptor.
Authors:
N Zimmermann; J A Bernstein; M E Rothenberg
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Biochimica et biophysica acta     Volume:  1442     ISSN:  0006-3002     ISO Abbreviation:  Biochim. Biophys. Acta     Publication Date:  1998 Nov 
Date Detail:
Created Date:  1998-12-17     Completed Date:  1998-12-17     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  0217513     Medline TA:  Biochim Biophys Acta     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  170-6     Citation Subset:  IM; X    
Affiliation:
Division of Pulmonary Medicine, Allergy and Clinical Immunology, Department of Pediatrics, Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
African Continental Ancestry Group / genetics
Aged
Aged, 80 and over
Amino Acid Sequence
Asthma / genetics,  immunology
Base Sequence
Child
DNA Primers
European Continental Ancestry Group / genetics
HIV / physiology
Humans
Infant, Newborn
Models, Molecular
Molecular Sequence Data
Ohio
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Polymorphism, Single-Stranded Conformational*
Protein Structure, Secondary
Receptors, CCR3
Receptors, Chemokine / chemistry*,  genetics*
Receptors, HIV / chemistry,  genetics
Chemical
Reg. No./Substance:
0/CCR3 protein, human; 0/DNA Primers; 0/Receptors, CCR3; 0/Receptors, Chemokine; 0/Receptors, HIV

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