Unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays

Veerappa, A. M. and Vishweswaraiah, S. and Lingaiah, K. and Murthy, M. and Manjegowda, D. S. and Nayaka, R. and Ramachandra, N. B. (2013) Unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays. PLoS ONE, 8 (7).

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Official URL: http://doi.org/10.1371/journal.pone.0066843

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.

Item Type: Article
Uncontrolled Keywords: adolescent, Adolescent, adult, Adult, aged, Aged, article, China, Chromosome Mapping, Cluster Analysis, Computational Biology, copy number variation, DNA Copy Number Variations, ethnic group, evolution, gene deletion, Gene Dosage, gene duplication, Gene Regulatory Networks, Genetic, genetic procedures, genetic variability, Genome-Wide Association Study, genotype, haplotype map, human, human genome, Humans, India, Indian, Middle Aged, Odorant, olfactory receptor, Olfactory Receptor Neurons, Oligonucleotide Array Sequence Analysis, phylogeny, Phylogeny, Polymorphism, Protein Interaction Maps, pseudogene, Receptors, Recombination, Single Nucleotide, single nucleotide polymorphism, Tibetan, Young Adult
Subjects: B Life Science > Zoology
Divisions: Department of > Zoology
Depositing User: Arshiya Kousar
Date Deposited: 16 Nov 2019 06:16
Last Modified: 16 Nov 2019 06:16
URI: http://eprints.uni-mysore.ac.in/id/eprint/9587

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