Polymorphisms in the human CC chemokine receptor-3 gene

Biochim Biophys Acta. 1998 Nov 8;1442(2-3):170-6. doi: 10.1016/s0167-4781(98)00162-6.

Abstract

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.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Sequence
  • Asthma / genetics
  • Asthma / immunology
  • Base Sequence
  • Black People / genetics
  • Black or African American
  • Child
  • DNA Primers
  • 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*
  • Receptors, Chemokine / genetics*
  • Receptors, HIV / chemistry
  • Receptors, HIV / genetics
  • White People / genetics

Substances

  • CCR3 protein, human
  • DNA Primers
  • Receptors, CCR3
  • Receptors, Chemokine
  • Receptors, HIV