title: Identification of six new polymorphisms in the human coronavirus 229E receptor gene (aminopeptidase N/CD13).
abstract: OBJECTIVE
  Human aminopeptidase N (APN/CD13/ANPEP) has been identified as the receptor for human coronavirus (HCoV) 229E. In this study, we analyzed the region of the APN gene that encodes a stretch of amino acid residues, essential for its HCoV-229E receptor function (amino acids 260-353).
  
  
  METHODS
  Full-length APN exon 3, intron 3 and exon 4, was PCR-amplified and sequenced in DNA samples from 100 unrelated Caucasian Belgian healthy volunteers.
  
  
  RESULTS
  We identified seven polymorphisms, including four intron 3 and three exon 4 variations. Apart from the already known C956T exon 4 mutation, the six other polymorphisms have not yet been described. The most prevalent APN variations in this population (C956T leading to an alanine to valine substitution, G978T, G987A and intron3-C389T) always occurred together at an allele frequency of 8.5%. Haploid DNA sequencing demonstrated the presence of these four variations on the same allele. Three polymorphisms in intron 3, intron3-G395C, intron3-C86T, and intron3-C429T, were identified with an allele frequency of 3.5%, 1% and 0.5% respectively. Five haplotypes were identified in the population of 100 individuals.
  
  
  CONCLUSIONS
  These results demonstrate that there is a relatively broad spectrum of variations in the APN domain critical for coronavirus binding.
authors.affiliation: Laboratory of Clinical and Epidemiological Virology, Department of Microbiology and Immunology, Rega Institute for Medical Research, University of Leuven, Minderbroedersstraat 10, BE-3000, Belgium.
authors.forename: Leen
authors.initials: L
authors.lastname: Vijgen
authors.forename: Els
authors.initials: E
authors.lastname: Keyaerts
authors.forename: Kalina
authors.initials: K
authors.lastname: Zlateva
authors.forename: Marc
authors.initials: M
authors.lastname: Van Ranst
mesh_terms: D001483:Base Sequence; D018826:CD13 Antigens / Q000235:genetics* / Q000378:metabolism; D028941:Coronavirus 229E, Human / Q000378:metabolism*; D018352:Coronavirus Infections / Q000201:enzymology* / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D006239:Haplotypes / Q000235:genetics / Q000276:immunology; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA; D018826:CD13 Antigens