Evolution of Duplications Within Mammalian Genomes

• Main Author: Carson, Andrew R. F.
• Other Authors: Scherer, Stephen W.
• Language: en_ca
• Published: 2010
• Subjects: Genetics; Evolution; 0369
• Online Access: http://hdl.handle.net/1807/24699

Genomic evolution is a continuous process that involves the accumulation of neutral and adaptive variation within DNA sequences. Duplication, a mechanism that introduces new genetic material into a genome, is thought to be the primary source of new genes that have arisen during vertebrate evolution. This hypothesis, popularized by Susumu Ohno in 1970, has transformed the field of evolutionary biology. Consequently, many evolutionary studies have concentrated on identifying examples of gene duplication and assessing their impact on the evolution of genomes. This thesis presents the identification and analysis of three examples of gene duplication involved in shaping mammalian genomes. Through these analyses, I investigate the fate of duplicated genes and discuss the potential impact of duplication on genomic evolution. The fates depicted within these studies range from the pseudogenization of recent gene duplications to the preservation of ancient duplications for over 100 million years in multiple mammalian genomes. The consequences of these fates include neofunctionalization, subfunctionalization, and gene relocation. In additional, the analyses in this thesis demonstrate different rates and directions of evolution following gene duplication. Some duplicated genes are shown to diverge gradually over time throughout mammalian evolution, while others exhibit an accelerated evolutionary rate within a specific lineage. In other rare cases, divergence is impeded such that duplicated genes evolve in synchronization, under a process known as concerted evolution. This can lead to examples showing mosaic evolution, where both divergent and concerted evolutionary signatures are observed within a single duplicated gene. Through the analyses presented in this thesis, I illustrate some of the different evolutionary histories that result from gene duplication and examine the variety of forces that influence the evolution of duplicated genes. These studies examine the role of duplication in mammalian evolution and represent a significant contribution to the growing body of knowledge in the field of evolutionary biology.