Skip to main content
bioRxiv
  • Home
  • About
  • Submit
  • ALERTS / RSS
Advanced Search
New Results

Genetic variation across the human olfactory receptor repertoire alters odor perception

Casey Trimmer, Andreas Keller, Nicolle R. Murphy, Lindsey L. Snyder, Jason R. Willer, Maira Nagai, View ORCID ProfileNicholas Katsanis, View ORCID ProfileLeslie B. Vosshall, View ORCID ProfileHiroaki Matsunami, View ORCID ProfileJoel D. Mainland
doi: https://doi.org/10.1101/212431
Casey Trimmer
1Monell Chemical Senses Center, Philadelphia, Pennsylvania, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Andreas Keller
2Laboratory of Neurogenetics and Behavior, The Rockefeller University, New York, New York, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Nicolle R. Murphy
1Monell Chemical Senses Center, Philadelphia, Pennsylvania, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Lindsey L. Snyder
1Monell Chemical Senses Center, Philadelphia, Pennsylvania, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Jason R. Willer
3Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Maira Nagai
4Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina, USA
5Department of Biochemistry, University of Sao Paulo, Sao Paulo, Brazil
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Nicholas Katsanis
3Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Nicholas Katsanis
Leslie B. Vosshall
2Laboratory of Neurogenetics and Behavior, The Rockefeller University, New York, New York, USA
6Howard Hughes Medical Institute, New York, New York, USA
7Kavli Neural Systems Institute, New York, New York, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Leslie B. Vosshall
Hiroaki Matsunami
4Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina, USA
8Department of Neurobiology and Duke Institute for Brain Sciences, Duke University Medical Center, Durham, North Carolina, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Hiroaki Matsunami
Joel D. Mainland
1Monell Chemical Senses Center, Philadelphia, Pennsylvania, USA
9Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Joel D. Mainland
  • Abstract
  • Full Text
  • Info/History
  • Metrics
  • Supplementary material
  • Preview PDF
Loading

ABSTRACT

The human olfactory receptor repertoire is characterized by an abundance of genetic variation that affects receptor response, but the perceptual effects of this variation are unclear. To address this issue, we sequenced the OR repertoire in 332 individuals and examined the relationship between genetic variation and 276 olfactory phenotypes, including the perceived intensity and pleasantness of 68 odorants at two concentrations, detection thresholds of three odorants, and general olfactory acuity. Genetic variation in a single OR frequently associated with odorant perception, and we validated 10 cases in which in vitro OR function correlated with in vivo odorant perception using a functional assay. This more than doubles the published examples of this phenomenon. For eight of these 10 cases, reduced receptor function associated with reduced intensity perception. In addition, we used participant genotypes to quantify genetic ancestry and found that, in combination with single OR genotype, age and gender, we can explain between 10 and 20% of the perceptual variation in 15 olfactory phenotypes, highlighting the importance of single OR genotype, ancestry, and demographic factors in variation of olfactory perception.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
Back to top
PreviousNext
Posted November 01, 2017.
Download PDF

Supplementary Material

Email

Thank you for your interest in spreading the word about bioRxiv.

NOTE: Your email address is requested solely to identify you as the sender of this article.

Enter multiple addresses on separate lines or separate them with commas.
Genetic variation across the human olfactory receptor repertoire alters odor perception
(Your Name) has forwarded a page to you from bioRxiv
(Your Name) thought you would like to see this page from the bioRxiv website.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Share
Genetic variation across the human olfactory receptor repertoire alters odor perception
Casey Trimmer, Andreas Keller, Nicolle R. Murphy, Lindsey L. Snyder, Jason R. Willer, Maira Nagai, Nicholas Katsanis, Leslie B. Vosshall, Hiroaki Matsunami, Joel D. Mainland
bioRxiv 212431; doi: https://doi.org/10.1101/212431
Reddit logo Twitter logo Facebook logo LinkedIn logo Mendeley logo
Citation Tools
Genetic variation across the human olfactory receptor repertoire alters odor perception
Casey Trimmer, Andreas Keller, Nicolle R. Murphy, Lindsey L. Snyder, Jason R. Willer, Maira Nagai, Nicholas Katsanis, Leslie B. Vosshall, Hiroaki Matsunami, Joel D. Mainland
bioRxiv 212431; doi: https://doi.org/10.1101/212431

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Subject Area

  • Genetics
Subject Areas
All Articles
  • Animal Behavior and Cognition (4658)
  • Biochemistry (10313)
  • Bioengineering (7636)
  • Bioinformatics (26241)
  • Biophysics (13481)
  • Cancer Biology (10648)
  • Cell Biology (15361)
  • Clinical Trials (138)
  • Developmental Biology (8463)
  • Ecology (12776)
  • Epidemiology (2067)
  • Evolutionary Biology (16794)
  • Genetics (11372)
  • Genomics (15431)
  • Immunology (10580)
  • Microbiology (25087)
  • Molecular Biology (10172)
  • Neuroscience (54233)
  • Paleontology (398)
  • Pathology (1660)
  • Pharmacology and Toxicology (2883)
  • Physiology (4326)
  • Plant Biology (9213)
  • Scientific Communication and Education (1582)
  • Synthetic Biology (2545)
  • Systems Biology (6761)
  • Zoology (1458)