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http://dx.doi.org/10.5483/BMBRep.2015.48.7.073

Loss of gene function and evolution of human phenotypes  

Oh, Hye Ji (Department of Life Science, Research Center for Biomolecules and Biosystems, Chung-Ang University)
Choi, Dongjin (Department of Life Science, Research Center for Biomolecules and Biosystems, Chung-Ang University)
Goh, Chul Jun (Department of Life Science, Research Center for Biomolecules and Biosystems, Chung-Ang University)
Hahn, Yoonsoo (Department of Life Science, Research Center for Biomolecules and Biosystems, Chung-Ang University)
Publication Information
BMB Reports / v.48, no.7, 2015 , pp. 373-379 More about this Journal
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. [BMB Reports 2015; 48(7): 373-379]
Keywords
Human evolution; Gene inactivation; Pseudogene; Lessis-more hypothesis;
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