A gene recently inactivated in human defines a new olfactory receptor family in mammals.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Rouquier, S; Friedman, C; Delettre, C; van den Engh, G; Blancher, A; Crouau-Roy, B; Trask, B J; Giorgi, D
Year of Publication: 1998
Journal: Hum Mol Genet
Volume: 7
Issue: 9
Pagination: 1337-45
Date Published: 09/1998
Publication Language: eng
ISSN: 0964-6906
Keywords: Amino Acid Sequence, Animals, Base Sequence, Chromosomes, Human, Pair 11, Cloning, Molecular, DNA, DNA Primers, Evolution, Molecular, Humans, In Situ Hybridization, Fluorescence, Mammals, Molecular Sequence Data, Multigene Family, Mutation, Phylogeny, Primates, Pseudogenes, Receptors, Odorant, Sequence Homology, Amino Acid, Smell

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.

Alternate Journal: Hum. Mol. Genet.
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