Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location

Elena Linardopoulou, Heather C. Mefford, Oanh Nguyen, Cynthia Friedman, Ger Van Den Engh, D Gregory Farwell, Marc Coltrera, Barbara J. Trask

Research output: Contribution to journalArticle

44 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2373-2383
Number of pages11
JournalHuman Molecular Genetics
Volume10
Issue number21
StatePublished - Nov 1 2001
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Linardopoulou, E., Mefford, H. C., Nguyen, O., Friedman, C., Van Den Engh, G., Farwell, D. G., Coltrera, M., & Trask, B. J. (2001). Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location. Human Molecular Genetics, 10(21), 2373-2383.