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

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 O...

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Main Authors: Avinash M Veerappa, Sangeetha Vishweswaraiah, Kusuma Lingaiah, Megha Murthy, Dinesh S Manjegowda, Radhika Nayaka, Nallur B Ramachandra
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3700933?pdf=render
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author Avinash M Veerappa
Sangeetha Vishweswaraiah
Kusuma Lingaiah
Megha Murthy
Dinesh S Manjegowda
Radhika Nayaka
Nallur B Ramachandra
author_facet Avinash M Veerappa
Sangeetha Vishweswaraiah
Kusuma Lingaiah
Megha Murthy
Dinesh S Manjegowda
Radhika Nayaka
Nallur B Ramachandra
author_sort Avinash M Veerappa
collection DOAJ
description 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.
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spelling doaj.art-91b178a00b134978b8fe61b344ed9c912022-12-21T18:39:04ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-0187e6684310.1371/journal.pone.0066843Unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays.Avinash M VeerappaSangeetha VishweswaraiahKusuma LingaiahMegha MurthyDinesh S ManjegowdaRadhika NayakaNallur B RamachandraOlfactory 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.http://europepmc.org/articles/PMC3700933?pdf=render
spellingShingle Avinash M Veerappa
Sangeetha Vishweswaraiah
Kusuma Lingaiah
Megha Murthy
Dinesh S Manjegowda
Radhika Nayaka
Nallur B Ramachandra
Unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays.
PLoS ONE
title Unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays.
title_full Unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays.
title_fullStr Unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays.
title_full_unstemmed Unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays.
title_short Unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays.
title_sort unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays
url http://europepmc.org/articles/PMC3700933?pdf=render
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