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Brief Report

Functional Innovation through Gene Duplication Followed by Frameshift Mutation

Key Laboratory of Zoological Systematics and Evolution, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China
University of Chinese Academy of Sciences, Beijing 100049, China
Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming 650223, China
Department of Evolutionary Studies of Biosystems, Graduate University for Advanced Studies, Hayama 240-0193, Kanagawa, Japan
Authors to whom correspondence should be addressed.
Academic Editor: Nico M. Van Straalen
Genes 2022, 13(2), 190;
Received: 11 August 2021 / Revised: 14 January 2022 / Accepted: 18 January 2022 / Published: 21 January 2022
(This article belongs to the Special Issue How Do New Genes Originate and Evolve?)
In his influential book “Evolution by Gene Duplication”, Ohno postulated that frameshift mutation could lead to a new function after duplication, but frameshift mutation is generally thought to be deleterious, and thus drew little attention in functional innovation in duplicate evolution. To this end, we here report an exhaustive survey of the genomes of human, mouse, zebrafish, and fruit fly. We identified 80 duplicate genes that involved frameshift mutations after duplication. The frameshift mutation preferentially located close to the C-terminus in most cases (55/88), which indicated that a frameshift mutation that changed the reading frame in a small part at the end of a duplicate may likely have contributed to adaptive evolution (e.g., human genes NOTCH2NL and ARHGAP11B) otherwise too deleterious to survive. A few cases (11/80) involved multiple frameshift mutations, exhibiting various patterns of modifications of the reading frame. Functionality of duplicate genes involving frameshift mutations was confirmed by sequence characteristics and expression profile, suggesting a potential role of frameshift mutation in creating functional novelty. We thus showed that genomes have non-negligible numbers of genes that have experienced frameshift mutations following gene duplication. Our results demonstrated the potential importance of frameshift mutations in molecular evolution, as Ohno verbally argued 50 years ago. View Full-Text
Keywords: Ohno; gene duplication; frameshift mutation; NOTCH2NL; ARHGAP11B Ohno; gene duplication; frameshift mutation; NOTCH2NL; ARHGAP11B
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MDPI and ACS Style

Guo, B.; Zou, M.; Sakamoto, T.; Innan, H. Functional Innovation through Gene Duplication Followed by Frameshift Mutation. Genes 2022, 13, 190.

AMA Style

Guo B, Zou M, Sakamoto T, Innan H. Functional Innovation through Gene Duplication Followed by Frameshift Mutation. Genes. 2022; 13(2):190.

Chicago/Turabian Style

Guo, Baocheng, Ming Zou, Takahiro Sakamoto, and Hideki Innan. 2022. "Functional Innovation through Gene Duplication Followed by Frameshift Mutation" Genes 13, no. 2: 190.

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