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The olfactory receptor (OR) gene family contains approximately 1000 genes for olfaction, and humans have experienced varying lineage-specific alterations in these genes. Of the ~1000 genes within the family, over 60% are pseudogenized in humans, a percentage twice as high as other non-human primates, and many OR genes have undergone lineage-specific conversion events affecting odorant binding sites. Additionally, humans have accumulated mutations four times faster in these genes than other primates. One example of this phenomenon is the OR gene 912-93, which in humans has experienced a nonsense mutation rendering it nonfunctional. In contrast to this general pattern of loss/pseudogenization, a DNA segment containing multiple OR genes has expanded from 1-2 copies in chimpanzee and gorilla to 7-11 copies in humans.
Human specific loss of olfactory receptor genes., , Proc Natl Acad Sci U S A, 2003 Mar 18, Volume 100, Issue 6, p.3324-7, (2003)
The complex structure and dynamic evolution of human subtelomeres., , Nat Rev Genet, 2002 Feb, Volume 3, Issue 2, p.91-102, (2002)
Primate evolution of an olfactory receptor cluster: diversification by gene conversion and recent emergence of pseudogenes., , Genomics, 10/1999, Volume 61, Issue 1, p.24-36, (1999)
A gene recently inactivated in human defines a new olfactory receptor family in mammals., , Hum Mol Genet, 09/1998, Volume 7, Issue 9, p.1337-45, (1998)
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, 01/1998, Volume 7, Issue 1, p.13-26, (1998)