BMB Rep. 2015; 48(7): 373-379  
Loss of gene function and evolution of human phenotypes
Hye Ji Oh, Dongjin Choi, Chul Jun Goh & Yoonsoo Hahn*
Department of Life Science, Research Center for Biomolecules and Biosystems, Chung-Ang University, Seoul 156-756, Korea
Correspondence to: Tel: +82-2-820-5812; Fax: +82-2-825-5206; E-mail:
Received: April 11, 2015; Published online: July 31, 2015.
© Korean Society for Biochemistry and Molecular Biology. All rights reserved.

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.
Keywords: Human evolution, Gene inactivation, Pseudogene, Lessis- more hypothesis

This Article