Human Molecular Genetics, 2001, Vol. 10, No. 21 2373-2383
© 2001 Oxford University Press
Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location
1Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA, 2Department of Bioengineering, 3Department of Genetics, 4Department of Molecular Biotechnology, University of Washington, Seattle, WA 98195, USA, 5Institute for Systems Biology, Seattle, WA 98105, USA and 6Department of Otolaryngology, University of Washington, Seattle, WA 98195, USA
We report here on the transcriptional activity of multiple copies of a subtelomerically located olfactory receptor (OR) gene, OR-A. Due to recent duplication events, both the copy number and chromosomal location of OR-A vary among humans. Sequence analyses of 180 copies of this gene, derived from 12 chromosome ends in 22 individuals, show that the main coding exon of all but one copy is an intact open reading frame with 0–5 predicted amino acid differences. We detected transcription of OR-A in both olfactory epithelium and testis tissue using RT–PCR amplification with primers designed on the basis of a computationally predicted gene structure. Two alternatively spliced forms of transcripts, one encoding an isoform with an extended N-terminus, were found in both tissues. A third transcript, derived from a second promoter, was also observed in testes. The start methionine is predicted in all transcripts to lie in an upstream exon rather than the main coding exon, as is typical for most other OR genes. By examining sequence variants among transcripts, we show that transcription of this gene occurs at multiple chromosomal locations. Our results lend credence to the idea that OR diversity could be generated in rearrangement-prone subtelomeric regions and show that polymorphism in subtelomeric regions could lead to individual-to-individual variation in the expressed repertoire of OR genes.
+ To whom correspondence should be addressed at: 1100 Fairview Avenue N, Mailstop C3-168, P.O. Box 19024, Seattle, WA 98109, USA. Tel: +1 206 667 1470; Fax: +1 206 667 4023; Email: btrask@fhcrc.orgPresent address:Oanh Nguyen, Pacific Horizon Ventures, 1001 Fourth Avenue Plaza, Suite 4105, Seattle, WA 98154, USAThe authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  M. K. Rudd, R. M. Endicott, C. Friedman, M. Walker, J. M. Young, K. Osoegawa, NISC Comparative Sequencing Program, P. J. de Jong, E. D. Green, and B. J. Trask Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event Genome Res., January 1, 2009; 19(1): 33 - 41. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. H. De Maeyer, J. Aerssens, P. Verhasselt, and R. A. Lefebvre Alternative splicing and exon duplication generates 10 unique porcine 5-HT4 receptor splice variants including a functional homofusion variant Physiol Genomics, June 1, 2008; 34(1): 22 - 33. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Gilad, O. Man, and G. Glusman A comparison of the human and chimpanzee olfactory receptor gene repertoires Genome Res., February 1, 2005; 15(2): 224 - 230. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. M. Young, M. Kambere, B. J. Trask, and R. P. Lane Divergent V1R repertoires in five species: Amplification in rodents, decimation in primates, and a surprisingly small repertoire in dogs Genome Res., February 1, 2005; 15(2): 231 - 240. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Amadou, R. M. Younger, S. Sims, L. H. Matthews, J. Rogers, A. Kumanovics, A. Ziegler, S. Beck, and K. Fischer Lindahl Co-duplication of olfactory receptor and MHC class I genes in the mouse major histocompatibility complex Hum. Mol. Genet., November 15, 2003; 12(22): 3025 - 3040. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Newman and B. J. Trask Complex Evolution of 7E Olfactory Receptor Genes in Segmental Duplications Genome Res., May 1, 2003; 13(5): 781 - 793. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Courseaux, F. Richard, J. Grosgeorge, C. Ortola, A. Viale, C. Turc-Carel, B. Dutrillaux, P. Gaudray, and J.-L. Nahon Segmental Duplications in Euchromatic Regions of Human Chromosome 5: A Source of Evolutionary Instability and Transcriptional Innovation Genome Res., March 1, 2003; 13(3): 369 - 381. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Fan, T. Newman, E. Linardopoulou, and B. J. Trask Gene Content and Function of the Ancestral Chromosome Fusion Site in Human Chromosome 2q13-2q14.1 and Paralogous Regions Genome Res., November 1, 2002; 12(11): 1663 - 1672. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. M. Young and B. J. Trask The sense of smell: genomics of vertebrate odorant receptors Hum. Mol. Genet., May 15, 2002; 11(10): 1153 - 1160. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. M. Young, C. Friedman, E. M. Williams, J. A. Ross, L. Tonnes-Priddy, and B. J. Trask Different evolutionary processes shaped the mouse and human olfactory receptor gene families Hum. Mol. Genet., March 1, 2002; 11(5): 535 - 546. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. C. Mefford, E. Linardopoulou, D. Coil, G. van den Engh, and B. J. Trask Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes Hum. Mol. Genet., October 1, 2001; 10(21): 2363 - 2372. [Abstract] [Full Text] [PDF]
|
|