Home LiteratureArticle Details
PMID: 14507991 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Evolution of olfactory receptor genes in the human genome.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 100 ·No. 21 ·2003-10-14 ·Pages 12235-40

Niimura Y, Nei M

Abstract

Olfactory receptor (OR) genes form the largest known multigene family in the human genome. To obtain some insight into their evolutionary history, we have identified the complete set of OR genes and their chromosomal locations from the latest human genome sequences. We detected 388 potentially functional genes that have intact ORFs and 414 apparent pseudogenes. The number and the fraction (48%) of functional genes are considerably larger than the ones previously reported. The human OR genes can clearly be divided into class I and class II genes, as was previously noted. Our phylogenetic analysis has shown that the class II OR genes can further be classified into 19 phylogenetic clades supported by high bootstrap values. We have also found that there are many tandem arrays of OR genes that are phylogenetically closely related. These genes appear to have been generated by tandem gene duplication. However, the relationships between genomic clusters and phylogenetic clades are very complicated. There are a substantial number of cases in which the genes in the same phylogenetic clade are located on different chromosomal regions. In addition, OR genes belonging to distantly related phylogenetic clades are sometimes located very closely in a chromosomal region and form a tight genomic cluster. These observations can be explained by the assumption that several chromosomal rearrangements have occurred at the regions of OR gene clusters and the OR genes contained in different genomic clusters are shuffled.

MeSH Terms
Biological Evolution Chromosome Mapping Gene Duplication Gene Rearrangement Genome, Human Humans Multigene Family Open Reading Frames Phylogeny Pseudogenes Receptors, Odorant/genetics
Chemicals
Receptors, Odorant
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Niimura Yoshihito
Institute of Molecular Evolutionary Genetics and Department of Biology, Pennsylvania State University, 328 Mueller Laboratory, University Park, PA 16802, USA.
Nei Masatoshi
References (35)
35 references, click to expand
  1. Segmental duplications and the evolution of the primate genome.
    Nat Rev Genet. 2002 Jan;3(1):65-72 PMID: 11823792
  2. Genome architecture, rearrangements and genomic disorders.
    Trends Genet. 2002 Feb;18(2):74-82 PMID: 11818139
  3. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.
    Am J Hum Genet. 2002 Aug;71(2):276-85 PMID: 12058347
  4. MAFFT: a novel method for rapid multiple sequence alignment based on fast Fourier transform.
    Nucleic Acids Res. 2002 Jul 15;30(14):3059-66 PMID: 12136088
  5. Initial sequencing and comparative analysis of the mouse genome.
    Nature. 2002 Dec 5;420(6915):520-62 PMID: 12466850
  6. The UCSC Genome Browser Database.
    Nucleic Acids Res. 2003 Jan 1;31(1):51-4 PMID: 12519945
  7. Human specific loss of olfactory receptor genes.
    Proc Natl Acad Sci U S A. 2003 Mar 18;100(6):3324-7 PMID: 12612342
  8. Identification of a testicular odorant receptor mediating human sperm chemotaxis.
    Science. 2003 Mar 28;299(5615):2054-8 PMID: 12663925
  9. Gene duplication and nucleotide substitution in evolution.
    Nature. 1969 Jan 4;221(5175):40-2 PMID: 5782607
  10. The neighbor-joining method: a new method for reconstructing phylogenetic trees.
    Mol Biol Evol. 1987 Jul;4(4):406-25 PMID: 3447015
  11. A novel multigene family may encode odorant receptors: a molecular basis for odor recognition.
    Cell. 1991 Apr 5;65(1):175-87 PMID: 1840504
  12. Expression of members of the putative olfactory receptor gene family in mammalian germ cells.
    Nature. 1992 Jan 30;355(6359):453-5 PMID: 1370859
  13. The family of genes encoding odorant receptors in the channel catfish.
    Cell. 1993 Mar 12;72(5):657-66 PMID: 7916654
  14. Allelic inactivation regulates olfactory receptor gene expression.
    Cell. 1994 Sep 9;78(5):823-34 PMID: 8087849
  15. Phylogenetic test of the molecular clock and linearized trees.
    Mol Biol Evol. 1995 Sep;12(5):823-33 PMID: 7476128
  16. Evolution by the birth-and-death process in multigene families of the vertebrate immune system.
    Proc Natl Acad Sci U S A. 1997 Jul 22;94(15):7799-806 PMID: 9223266
  17. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs.
    Nucleic Acids Res. 1997 Sep 1;25(17):3389-402 PMID: 9254694
  18. Distribution of olfactory receptor genes in the human genome.
    Nat Genet. 1998 Mar;18(3):243-50 PMID: 9500546
  19. Olfactory receptors in aquatic and terrestrial vertebrates.
    J Comp Physiol A. 1998 Nov;183(5):635-50 PMID: 9839455
  20. Vertebrate pseudogenes.
    FEBS Lett. 2000 Feb 25;468(2-3):109-14 PMID: 10692568
  21. The olfactory receptor gene repertoire in primates and mouse: evidence for reduction of the functional fraction in primates.
    Proc Natl Acad Sci U S A. 2000 Mar 14;97(6):2870-4 PMID: 10706615
  22. The molecular architecture of odor and pheromone sensing in mammals.
    Cell. 2000 Mar 17;100(6):611-8 PMID: 10761927
  23. Mutually exclusive expression of odorant receptor transgenes.
    Nat Neurosci. 2000 Jul;3(7):687-93 PMID: 10862701
  24. Evolution of odorant receptors.
    Bioessays. 2000 Sep;22(9):803-10 PMID: 10944582
  25. The olfactory receptor gene superfamily: data mining, classification, and nomenclature.
    Mamm Genome. 2000 Nov;11(11):1016-23 PMID: 11063259
  26. Initial sequencing and analysis of the human genome.
    Nature. 2001 Feb 15;409(6822):860-921 PMID: 11237011
  27. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
    Am J Hum Genet. 2001 Apr;68(4):874-83 PMID: 11231899
  28. The complete human olfactory subgenome.
    Genome Res. 2001 May;11(5):685-702 PMID: 11337468
  29. The human olfactory receptor repertoire.
    Genome Biol. 2001;2(6):RESEARCH0018 PMID: 11423007
  30. Characteristic features and ligand specificity of the two olfactory receptor classes from Xenopus laevis.
    J Exp Biol. 2001 Sep;204(Pt 17):2987-97 PMID: 11551987
  31. How the olfactory system makes sense of scents.
    Nature. 2001 Sep 13;413(6852):211-8 PMID: 11557990
  32. How smell develops.
    Nat Neurosci. 2001 Nov;4 Suppl:1192-8 PMID: 11687829
  33. Odorant receptor gene regulation: implications from genomic organization.
    Trends Genet. 2002 Jan;18(1):29-34 PMID: 11750698
  34. The olfactory receptor gene superfamily of the mouse.
    Nat Neurosci. 2002 Feb;5(2):124-33 PMID: 11802173
  35. Different evolutionary processes shaped the mouse and human olfactory receptor gene families.
    Hum Mol Genet. 2002 Mar 1;11(5):535-46 PMID: 11875048
Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.1635157100
Published
2003-10-14
Epub
2003-00-24
Pages
12235-40
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC218742
Subset
IM
Grants
NIGMS NIH HHS · R01 GM020293 · United States
NIGMS NIH HHS · GM 20293 · United States
External Links
PubMed source DOI: 10.1073/pnas.1635157100 PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2