The Human Olfactory Receptor Gene Family

Overview

Journal Proc Natl Acad Sci U S A

Specialty Science

Date 2004 Feb 26

PMID 14983052

Citations 207

Authors

Bettina Malnic

Paul A Godfrey

Linda B Buck

Affiliations

Soon will be listed here.

Abstract

Humans perceive an immense variety of chemicals as having distinct odors. Odor perception initiates in the nose, where odorants are detected by a large family of olfactory receptors (ORs). ORs have diverse protein sequences but can be assigned to subfamilies on the basis of sequence relationships. Members of the same subfamily have related sequences and are likely to recognize structurally related odorants. To gain insight into the mechanisms underlying odor perception, we analyzed the human OR gene family. By searching the human genome database, we identified 339 intact OR genes and 297 OR pseudogenes. Determination of their genomic locations showed that OR genes are unevenly distributed among 51 different loci on 21 human chromosomes. Sequence comparisons showed that the human OR family is composed of 172 subfamilies. Types of odorant structures that may be recognized by some subfamilies were predicted by identifying subfamilies that contain ORs with known odor ligands or human homologs of such ORs. Analysis of the chromosomal locations of members of each OR subfamily revealed that most subfamilies are encoded by a single chromosomal locus. Moreover, many loci encode only one or a few subfamilies, suggesting that different parts of the genome may, to some extent, be involved in the detection of different types of odorant structural motifs.

Citing Articles

Harnessing Odorant Receptor Activation to Suppress Real Malodor.

Kanemaki R, Kishigami K, Saito M, Yohda M, Fukutani Y Int J Mol Sci. 2025; 26(4).

PMID: 40004034 PMC: 11855274. DOI: 10.3390/ijms26041566.

Antagonists Enhance Cell-Surface Expression of Mammalian Odorant Receptors.

Takayama I, Araki N, Tewari J, Yohda M, Matsunami H, Fukutani Y Int J Mol Sci. 2025; 26(4).

PMID: 40003926 PMC: 11855683. DOI: 10.3390/ijms26041458.

Genome-wide pan-GPCR cell libraries accelerate drug discovery.

Yang H, Wang Y, Liu W, He T, Liao J, Qian Z Acta Pharm Sin B. 2024; 14(10):4296-4311.

PMID: 39525595 PMC: 11544303. DOI: 10.1016/j.apsb.2024.06.023.

Olfactory receptors in neural regeneration in the central nervous system.

Franco R, Garrigos C, Capo T, Serrano-Marin J, Rivas-Santisteban R, Lillo J Neural Regen Res. 2024; 20(9):2480-2494.

PMID: 39503417 PMC: 11801295. DOI: 10.4103/NRR.NRR-D-24-00495.

Effect and mechanism of green and aldehyde aroma compounds from sweet orange on sucrose sweetness perception.

Xiao Z, Wang H, Niu Y, Zhu J, Yu Y, She Y Food Chem X. 2024; 24:101853.

PMID: 39498250 PMC: 11533047. DOI: 10.1016/j.fochx.2024.101853.

References

Godfrey P, Malnic B, Buck L . The mouse olfactory receptor gene family. Proc Natl Acad Sci U S A. 2004; 101(7):2156-61. PMC: 357068. DOI: 10.1073/pnas.0308051100. View

Xie S, Feinstein P, Mombaerts P . Characterization of a cluster comprising approximately 100 odorant receptor genes in mouse. Mamm Genome. 2000; 11(12):1070-8. DOI: 10.1007/s003350010217. View

Ngai J, Dowling M, Buck L, Axel R, Chess A . The family of genes encoding odorant receptors in the channel catfish. Cell. 1993; 72(5):657-66. DOI: 10.1016/0092-8674(93)90395-7. View

Sullivan S, ADAMSON M, Ressler K, Kozak C, Buck L . The chromosomal distribution of mouse odorant receptor genes. Proc Natl Acad Sci U S A. 1996; 93(2):884-8. PMC: 40152. DOI: 10.1073/pnas.93.2.884. View

Glusman G, Clifton S, Roe B, Lancet D . Sequence analysis in the olfactory receptor gene cluster on human chromosome 17: recombinatorial events affecting receptor diversity. Genomics. 1996; 37(2):147-60. DOI: 10.1006/geno.1996.0536. View

Trask B, Friedman C, Rowen L, Akinbami C, Blankenship J, Collins C . Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes. Hum Mol Genet. 1998; 7(1):13-26. DOI: 10.1093/hmg/7.1.13. View

Zhao H, Ivic L, Otaki J, Hashimoto M, Mikoshiba K, Firestein S . Functional expression of a mammalian odorant receptor. Science. 1998; 279(5348):237-42. DOI: 10.1126/science.279.5348.237. View

Rouquier S, Taviaux S, Trask B, Brand-Arpon V, van den Engh G, Demaille J . Distribution of olfactory receptor genes in the human genome. Nat Genet. 1998; 18(3):243-50. DOI: 10.1038/ng0398-243. View

Buettner J, Glusman G, Ben-Arie N, Ramos P, Lancet D, Evans G . Organization and evolution of olfactory receptor genes on human chromosome 11. Genomics. 1998; 53(1):56-68. DOI: 10.1006/geno.1998.5422. View

10.

Trask B, Massa H, Brand-Arpon V, Chan K, Friedman C, Nguyen O . Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome. Hum Mol Genet. 1998; 7(13):2007-20. DOI: 10.1093/hmg/7.13.2007. View

11.

Krautwurst D, Yau K, Reed R . Identification of ligands for olfactory receptors by functional expression of a receptor library. Cell. 1999; 95(7):917-26. DOI: 10.1016/s0092-8674(00)81716-x. View

12.

Brand-Arpon V, Rouquier S, Massa H, de Jong P, Ferraz C, Ioannou P . A genomic region encompassing a cluster of olfactory receptor genes and a myosin light chain kinase (MYLK) gene is duplicated on human chromosome regions 3q13-q21 and 3p13. Genomics. 1999; 56(1):98-110. DOI: 10.1006/geno.1998.5690. View

13.

Lander E, Linton L, Birren B, Nusbaum C, Zody M, Baldwin J . Initial sequencing and analysis of the human genome. Nature. 2001; 409(6822):860-921. DOI: 10.1038/35057062. View

14.

Glusman G, Yanai I, Rubin I, Lancet D . The complete human olfactory subgenome. Genome Res. 2001; 11(5):685-702. DOI: 10.1101/gr.171001. View

15.

Zozulya S, Echeverri F, Nguyen T . The human olfactory receptor repertoire. Genome Biol. 2001; 2(6):RESEARCH0018. PMC: 33394. DOI: 10.1186/gb-2001-2-6-research0018. View

16.

Kajiya K, Inaki K, Tanaka M, Haga T, Kataoka H, Touhara K . Molecular bases of odor discrimination: Reconstitution of olfactory receptors that recognize overlapping sets of odorants. J Neurosci. 2001; 21(16):6018-25. PMC: 6763140. View

17.

Young J, Friedman C, Williams E, Ross J, Tonnes-Priddy L, Trask B . Different evolutionary processes shaped the mouse and human olfactory receptor gene families. Hum Mol Genet. 2002; 11(5):535-46. DOI: 10.1093/hmg/11.5.535. View

18.

Gaillard I, Rouquier S, Pin J, Mollard P, Richard S, Barnabe C . A single olfactory receptor specifically binds a set of odorant molecules. Eur J Neurosci. 2002; 15(3):409-18. DOI: 10.1046/j.0953-816x.2001.01871.x. View

19.

Bozza T, Feinstein P, Zheng C, Mombaerts P . Odorant receptor expression defines functional units in the mouse olfactory system. J Neurosci. 2002; 22(8):3033-43. PMC: 6757547. DOI: 20026321. View

20.

Waterston R, Lindblad-Toh K, Birney E, Rogers J, Abril J, Agarwal P . Initial sequencing and comparative analysis of the mouse genome. Nature. 2002; 420(6915):520-62. DOI: 10.1038/nature01262. View