ArticleAmerican journal of human genetics2008
Extensive copy-number variation of the human olfactory receptor gene family.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers.
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Who cites it
84 citing papers in PubMed, 153 citations in OpenAlex.
- Distribution of copy number alterations and impact of chromosome arm call thresholds for meningioma.Nature communications · 2025Article
- Diversity in chemosensory receptor genes in dogs and wolves: degeneration of the olfactory receptor gene repertoire in the brachycephalic Pug.Chemical senses · 2025Article
- Using expression data to fine map QTL associated with fertility in dairy cattle.Genetics, selection, evolution : GSE · 2024Article
- Emergence and influence of sequence bias in evolutionarily malleable, mammalian tandem arrays.BMC biology · 2023Article
- Genomic structural variation: A complex but important driver of human evolution.American journal of biological anthropology · 2023Review
- Human subsistence and signatures of selection on chemosensory genes.Communications biology · 2023Article
- A crowdsourcing database for the copy-number variation of the Spanish population.Human genomics · 2023Article
- Article
- Advancements in copy number variation screening in herbivorous livestock genomes and their association with phenotypic traits.Frontiers in veterinary science · 2023Review
- Emergence of synchronized multicellular mechanosensing from spatiotemporal integration of heterogeneous single-cell information transfer.Cell systems · 2022Article
- Copy Number Variation (CNV): A New Genomic Insight in Horses.Animals : an open access journal from MDPI · 2022Article
- DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects.Biomedical journal · 2021Review
- A comprehensive analysis of copy number variation in a Turkish dementia cohort.Human genomics · 2021Article
- A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing.BMC genomics · 2021Article
- Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition.Molecular genetics and metabolism reports · 2020Article
- A genome-wide analysis of copy number variation in Murciano-Granadina goats.Genetics, selection, evolution : GSE · 2020Article
- Identification of Loci and Pathways Associated with Heifer Conception Rate in U.S. Holsteins.Genes · 2020Article
- Genome-Wide Detection of CNVs and Association With Body Weight in Sheep Based on 600K SNP Arrays.Frontiers in genetics · 2020Article
- An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health.Journal of molecular evolution · 2020Review
- CNV analysis of Meishan pig by next-generation sequencing and effects ofJournal of animal science and biotechnology · 2020Article
24 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
As much as a quarter of the human genome has been reported to vary in copy number between individuals, including regions containing about half of the members of the olfactory receptor (OR) gene family. We have undertaken a detailed study of copy-number variation of ORs to elucidate the selective and mechanistic forces acting on this gene family and the true impact of copy-number variation on human OR repertoires. We argue that the properties of copy-number variants (CNVs) and other sets of large genomic regions violate the assumptions of statistical methods that are commonly used in the assessment of gene enrichment. Using more appropriate methods, we provide evidence that OR enrichment in CNVs is not due to positive selection but is because of OR preponderance in segmentally duplicated regions, which are known to be frequently copy-number variable, and because purifying selection against CNVs is lower in OR-containing regions than in regions containing essential genes. We also combine multiplex ligation-dependent probe amplification (MLPA) and PCR to assay the copy numbers of 37 candidate CNV ORs in a panel of approximately 50 human individuals. We confirm copy-number variation of 18 ORs but find no variation in this human-diversity panel for 16 other ORs, highlighting the caveat that reported intervals often overrepresent true CNVs. The copy-number variation we describe is likely to underpin significant variation in olfactory abilities among human individuals. Finally, we show that both homology-based and homology-independent processes have played a recent role in remodeling the OR family.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.