Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes

Barbara J. Trask, Cynthia Friedman, Antonia Martin-Gallardo, Lee Rowen, Carolyn Akinbami, John Blankenship, Colin Collins, Dominique Giorgi, Shawn Iadonato, Forrester Johnson, Wen Lin Kuo, Hillary Massa, Tammy Morrish, Susan Naylor, Oanh T.H. Nguyen, Sylvie Rouquier, Todd Smith, David J. Wong, Janey Youngblom, Ger Van Den Engh

Research output: Contribution to journalArticlepeer-review

174 Scopus citations

Abstract

We have identified three new members of the olfactory receptor (OR) gene family within a large segment of DNA that is duplicated with high similarity near many human telomeres. This segment is present at 3q, 15q, and 19p in each of 45 unrelated humans sampled from various populations. Additional copies are present polymorphically at 11 other subtelomeric locations. The frequency with which the block is present at some locations varies among populations. While humans carry seven to 11 copies of the OR-containing block, it is located in chimpanzee and gorilla predominantly at a single site, which is not orthologous to any of the locations in the human genome. The observation that sequences flanking the OR-containing segment are duplicated on larger and different sets of chromosomes than the OR block itself demonstrates that the segment is part of a much larger, complex patchwork of subtelomeric duplications. The population analyses and structural results suggest the types of processes that have shaped these regions during evolution. From its sequence, one of the OR genes in this duplicated block appears to be potentially functional. Our findings raise the possibility that functional diversity in the OR family is generated in part through duplications and inter-chromosomal rearrangements of the DNA near human telomeres.

Original languageEnglish (US)
Pages (from-to)13-26
Number of pages14
JournalHuman molecular genetics
Volume7
Issue number1
DOIs
StatePublished - Jan 1998

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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