title: Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes.
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.
authors.affiliation: Department of Molecular Biotechnology, Box 357730, University of Washington, Seattle, WA 98195, USA. trask@biotech.washington.edu
authors.forename: B J
authors.initials: BJ
authors.lastname: Trask
authors.forename: C
authors.initials: C
authors.lastname: Friedman
authors.forename: A
authors.initials: A
authors.lastname: Martin-Gallardo
authors.forename: L
authors.initials: L
authors.lastname: Rowen
authors.forename: C
authors.initials: C
authors.lastname: Akinbami
authors.forename: J
authors.initials: J
authors.lastname: Blankenship
authors.forename: C
authors.initials: C
authors.lastname: Collins
authors.forename: D
authors.initials: D
authors.lastname: Giorgi
authors.forename: S
authors.initials: S
authors.lastname: Iadonato
authors.forename: F
authors.initials: F
authors.lastname: Johnson
authors.forename: W L
authors.initials: WL
authors.lastname: Kuo
authors.forename: H
authors.initials: H
authors.lastname: Massa
authors.forename: T
authors.initials: T
authors.lastname: Morrish
authors.forename: S
authors.initials: S
authors.lastname: Naylor
authors.forename: O T
authors.initials: OT
authors.lastname: Nguyen
authors.forename: S
authors.initials: S
authors.lastname: Rouquier
authors.forename: T
authors.initials: T
authors.lastname: Smith
authors.forename: D J
authors.initials: DJ
authors.lastname: Wong
authors.forename: J
authors.initials: J
authors.lastname: Youngblom
authors.forename: G
authors.initials: G
authors.lastname: van den Engh
mesh_terms: D000595:Amino Acid Sequence; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D004247:DNA / Q000032:analysis; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D018035:Receptors, Odorant / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D016415:Sequence Alignment; D016615:Telomere / Q000235:genetics*
chemical_list: D018035:Receptors, Odorant; D004247:DNA