Unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 23843967.
- Also identified by DOI 10.1371/journal.pone.0066843 and PMC identifier 3700933.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Gene Dosage
- Olfactory Receptor Neurons
- Oligonucleotide Array Sequence Analysis
- Polymorphism, Single Nucleotide
- Receptors, Odorant