Sequence analysis in the olfactory receptor gene cluster on human chromosome 17: recombinatorial events affecting receptor diversity

Genomics. 1996 Oct 15;37(2):147-60. doi: 10.1006/geno.1996.0536.


A cosmid clone covering a region of high olfactory receptor (OR) gene density inside the OR gene cluster on human chromosome 17 (17p13.3) was subjected to shotgun automated DNA sequencing. The resulting 40-kb sequence revealed three known OR coding regions, as well as a new OR pseudogene (OR17-25), fused to one of the previously identified OR genes (OR17-24). The suggested mechanism for the generation of this doublet structure involves an initial duplication mediated by flanking repeats and a subsequent deletion via nonhomologous recombination. Sequence analysis further suggests that the two other OR genes present in the cosmid (OR17-40 and OR17-228) may have evolved by ancient tandem duplication of an 11-kb fragment, mediated by recombination between mammalian-wide interspersed repeats. The duplicated genes appear to be complete and potentially functional. Their conserved structure reveals a long upstream intron and a previously uncharacterized 5' noncoding exon. No additional genes could be discerned in the cosmid, suggesting that the cluster may be part of a dedicated OR subgenome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Cell Line
  • Chromosomes, Human, Pair 17*
  • Cosmids
  • DNA
  • Genetic Variation
  • Humans
  • Molecular Sequence Data
  • Multigene Family*
  • RNA Splicing
  • Receptors, Odorant / genetics*
  • Recombination, Genetic*
  • Repetitive Sequences, Nucleic Acid
  • Transcription, Genetic


  • Receptors, Odorant
  • DNA

Associated data

  • GENBANK/U58675
  • GENBANK/X80391