title: Loss of gene function and evolution of human phenotypes.
abstract: Humans have acquired many distinct evolutionary traits after the human-chimpanzee divergence. These phenotypes have resulted from genetic changes that occurred in the human genome and were retained by natural selection. Comparative primate genome analyses reveal that loss-of-function mutations are common in the human genome. Some of these gene inactivation events were revealed to be associated with the emergence of advantageous phenotypes and were therefore positively selected and fixed in modern humans (the "less-ismore" hypothesis). Representative cases of human gene inactivation and their functional implications are presented in this review. Functional studies of additional inactive genes will provide insight into the molecular mechanisms underlying acquisition of various human-specific traits.
authors.affiliation: Department of Life Science, Research Center for Biomolecules and Biosystems, Chung-Ang University, Seoul 156-756, Korea.
authors.forename: Hye Ji
authors.initials: HJ
authors.lastname: Oh
authors.affiliation: Department of Life Science, Research Center for Biomolecules and Biosystems, Chung-Ang University, Seoul 156-756, Korea.
authors.forename: Dongjin
authors.initials: D
authors.lastname: Choi
authors.affiliation: Department of Life Science, Research Center for Biomolecules and Biosystems, Chung-Ang University, Seoul 156-756, Korea.
authors.forename: Chul Jun
authors.initials: CJ
authors.lastname: Goh
authors.affiliation: Department of Life Science, Research Center for Biomolecules and Biosystems, Chung-Ang University, Seoul 156-756, Korea.
authors.forename: Yoonsoo
authors.initials: Y
authors.lastname: Hahn
mesh_terms: D005075:Biological Evolution; D004032:Diet; D005796:Genes; D006801:Humans; D010641:Phenotype; D043562:Receptors, G-Protein-Coupled / Q000235:genetics; D012903:Smell / Q000235:genetics
chemical_list: D043562:Receptors, G-Protein-Coupled