title: Unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays.
abstract: Olfactory receptors (OR), responsible for detection of odor molecules, belong to the largest family of genes and are highly polymorphic in nature having distinct polymorphisms associated with specific regions around the globe. Since there are no reports on the presence of copy number variations in OR repertoire of Indian population, the present investigation in 43 Indians along with 270 HapMap and 31 Tibetan samples was undertaken to study genome variability and evolution. Analysis was performed using Affymetrix Genome-Wide Human SNP Array 6.0 chip, Affymterix CytoScan(®) High-Density array, HD-CNV, and MAFFT program. We observed a total of 1527 OR genes in 503 CNV events from 81.3% of the study group, which includes 67.6% duplications and 32.4% deletions encompassing more of genes than pseudogenes. We report human genotypic variation in functional OR repertoire size across populations and it was found that the combinatorial effect of both "orthologous obtained from closely related species" and "paralogous derived sequences" provide the complexity to the continuously occurring OR CNVs.
authors.affiliation: Genomics Lab, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, India.
authors.forename: Avinash M
authors.initials: AM
authors.lastname: Veerappa
authors.forename: Sangeetha
authors.initials: S
authors.lastname: Vishweswaraiah
authors.forename: Kusuma
authors.initials: K
authors.lastname: Lingaiah
authors.forename: Megha
authors.initials: M
authors.lastname: Murthy
authors.forename: Dinesh S
authors.initials: DS
authors.lastname: Manjegowda
authors.forename: Radhika
authors.initials: R
authors.lastname: Nayaka
authors.forename: Nallur B
authors.initials: NB
authors.lastname: Ramachandra
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002874:Chromosome Mapping; D016000:Cluster Analysis; D019295:Computational Biology / Q000379:methods; D056915:DNA Copy Number Variations; D018628:Gene Dosage; D053263:Gene Regulatory Networks; D055106:Genome-Wide Association Study; D006801:Humans; D008875:Middle Aged; D018034:Olfactory Receptor Neurons / Q000378:metabolism*; D020411:Oligonucleotide Array Sequence Analysis; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D060066:Protein Interaction Maps; D018035:Receptors, Odorant / Q000235:genetics* / Q000378:metabolism*; D011995:Recombination, Genetic; D055815:Young Adult
chemical_list: D018035:Receptors, Odorant