title: Human specific loss of olfactory receptor genes.
abstract: Olfactory receptor (OR) genes constitute the basis for the sense of smell and are encoded by the largest mammalian gene superfamily of >1,000 genes. In humans, >60% of these are pseudogenes. In contrast, the mouse OR repertoire, although of roughly equal size, contains only approximately 20% pseudogenes. We asked whether the high fraction of nonfunctional OR genes is specific to humans or is a common feature of all primates. To this end, we have compared the sequences of 50 human OR coding regions, regardless of their functional annotations, to those of their putative orthologs in chimpanzees, gorillas, orangutans, and rhesus macaques. We found that humans have accumulated mutations that disrupt OR coding regions roughly 4-fold faster than any other species sampled. As a consequence, the fraction of OR pseudogenes in humans is almost twice as high as in the non-human primates, suggesting a human-specific process of OR gene disruption, likely due to a reduced chemosensory dependence relative to apes.
authors.affiliation: Max Planck Institute for Evolutionary Anthropology, Inselstrasse 22, Leipzig D-04103, Germany. gilad@eva.mpg.de
authors.forename: Yoav
authors.initials: Y
authors.lastname: Gilad
authors.forename: Orna
authors.initials: O
authors.lastname: Man
authors.forename: Svante
authors.initials: S
authors.lastname: Pääbo
authors.forename: Doron
authors.initials: D
authors.lastname: Lancet
mesh_terms: D000818:Animals; D004247:DNA / Q000235:genetics; D019143:Evolution, Molecular; D020868:Gene Silencing; D006071:Gorilla gorilla / Q000235:genetics; D006801:Humans; D008253:Macaca mulatta / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family; D002679:Pan troglodytes / Q000235:genetics; D011148:Pongo pygmaeus / Q000235:genetics; D011323:Primates / Q000235:genetics; D011544:Pseudogenes; D018035:Receptors, Odorant / Q000235:genetics*; D013045:Species Specificity
chemical_list: D018035:Receptors, Odorant; D004247:DNA