Human Molecular Genetics, Vol 7, 1337-1345, Copyright © 1998 by Oxford University Press
S Rouquier, C Friedman, C Delettre, G van den Engh, A Blancher, B Crouau-Roy, BJ Trask and D Giorgi
The olfactory receptor (OR) gene family constitutes one of the largest
multigene families and is distributed among many chromosomal sites in the
human genome. Four OR families have been defined in mammals. We previously
demonstrated that a high fraction of human OR sequences have incurred
deleterious mutations, thus reducing the repertoire of functional OR genes.
In this study, we have characterized a new OR gene, 912-93, in primates.
This gene is unique and it defines a new OR family. It localizes to human
chromosome 11q11-12 and at syntenical sites in other hominoids. The
sequence marks a previously unrecognized rearrangement of pericentromeric
material from chromosome 11 to the centromeric region of gibbon chromosome
5. The human gene contains a nonsense point mutation in the region
corresponding to the extracellular N-terminus of the receptor. This
mutation is present in humans of various ethnic groups, but is absent in
apes, suggesting that it probably appeared during the divergence of humans
from other apes, <4 000 000-5 000 000 years ago. A second mutation, a
frameshift at a different location, has occurred in the gorilla copy of
this gene. These observations suggest that OR 912-93 has been recently
silenced in human and gorilla, adding to a pool of OR pseudogenes whose
growth may parallel a reduction in the sense of smell in primates.
ARTICLES
A gene recently inactivated in human defines a new olfactory receptor family in mammals
IGH, CNRS UPR 1142, 141 rue de la Cardonille, 34396 Montpellier Cedex 5, France.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  F. Casals, A. Ferrer-Admetlla, M. Sikora, A. Ramirez-Soriano, T. Marques-Bonet, S. Despiau, F. Roubinet, F. Calafell, J. Bertranpetit, and A. Blancher Human pseudogenes of the ABO family show a complex evolutionary dynamics and loss of function Glycobiology, June 1, 2009; 19(6): 583 - 591. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Hanada, C. Zou, M. D. Lehti-Shiu, K. Shinozaki, and S.-H. Shiu Importance of Lineage-Specific Expansion of Plant Tandem Duplicates in the Adaptive Response to Environmental Stimuli Plant Physiology, October 1, 2008; 148(2): 993 - 1003. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I. Gaillard, S. Rouquier, A. Chavanieu, P. Mollard, and D. Giorgi Amino-acid changes acquired during evolution by olfactory receptor 912-93 modify the specificity of odorant recognition Hum. Mol. Genet., April 1, 2004; 13(7): 771 - 780. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Volz, A. Ehlers, R. Younger, S. Forbes, J. Trowsdale, D. Schnorr, S. Beck, and A. Ziegler Complex Transcription and Splicing of Odorant Receptor Genes J. Biol. Chem., May 23, 2003; 278(22): 19691 - 19701. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Gilad, O. Man, S. Paabo, and D. Lancet Human specific loss of olfactory receptor genes PNAS, March 18, 2003; 100(6): 3324 - 3327. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Giorgi and S. Rouquier Identification of V1R-like Putative Pheromone Receptor Sequences in Non-human Primates. Characterization of V1R Pseudogenes in Marmoset, a Primate Species that Possesses an Intact Vomeronasal Organ Chem Senses, July 1, 2002; 27(6): 529 - 537. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. M. Young and B. J. Trask The sense of smell: genomics of vertebrate odorant receptors Hum. Mol. Genet., May 15, 2002; 11(10): 1153 - 1160. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Ehlers, S. Beck, S. A. Forbes, J. Trowsdale, A. Volz, R. Younger, and A. Ziegler MHC-Linked Olfactory Receptor Loci Exhibit Polymorphism and Contribute to Extended HLA/OR-Haplotypes Genome Res., December 1, 2000; 10(12): 1968 - 1978. [Abstract] [Full Text]
|
|
|
|
|
|
D. Giorgi and S. Rouquier LETTER TO THE EDITORS Chem Senses, October 1, 2000; 25(5): 591 - 592. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Rouquier, A. Blancher, and D. Giorgi The olfactory receptor gene repertoire in primates and mouse: Evidence for reduction of the functional fraction in primates PNAS, March 14, 2000; 97(6): 2870 - 2874. [Abstract] [Full Text] [PDF]
|
|