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The Pathological Consequences and Evolutionary Implications of Recent Human Genomic Duplications

  • Chapter
Comparative Genomics

Part of the book series: Computational Biology ((COBO,volume 1))

Abstract

Sequence duplications are one of the primary forces by which genes and genomes evolve. The evolutionary effects occur through a variety of different avenues. Gene duplications, either tandem or dispersed, create families of related genes. Extra copies of a gene can subtly influence the fitness of an organism, imparting a slight but important selective advantage over those lacking the duplication (Cooke et al., 1997; Shimeld, 1999). Also, a redundant copy exists in a state of relaxed selective constraint. This increases the chance that otherwise deleterious mutations will persist in an evolving genome, potentially acquiring new genic function outside the confines of the original function (Ganfornina and Sanchez, 1999). In this manner, individual family members can gain developmentally, spatially, or temporally modified functions independent of the ancestral copy. The most well-studied example of such an effect is the globin family of proteins (Stamatoyannopoulos and Nienhuis, 1994). Multiple globin isoforms are found in the mammalian genome, but each has a developmentally limited period of expression. In addition to generating genes with new or modified function, duplication events may also be used to increase copy number, thereby increasing the dosage of a particular protein or RNA product. The concerted evolution of rRNA genes clusters has long been thought of in this regard (Ganfornina and Sanchez, 1999). Duplications also increase genomic diversity, affording an organism a greater capacity to interact with its environment. Mutations within duplicate copies may occur which facilitate and fine-tune molecular interaction with a diverse repertoire of xenobiotic molecules. Such interactions may confer clear selective advantages to an organism and increase the number of niches that evolving species may occupy. Within the mammalian genome, olfactory receptor and immunoglobulin gene families are examples of such classes of genes that have evolved to recognize a diverse array of odorant molecules and antigens, respectively (Lancet et al., 1993; Kasahara, 1997; Marchalonis et al., 1998; Litman et al., 1999).

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  1. Department of Genetics, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH, 44106-4955, USA

    Christine O’Keefe & Evan Eichler

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  1. Christine O’Keefe
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  1. Université de Montréal, Canada

    David Sankoff

  2. Case Western Reserve University, USA

    Joseph H. Nadeau

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O’Keefe, C., Eichler, E. (2000). The Pathological Consequences and Evolutionary Implications of Recent Human Genomic Duplications. In: Sankoff, D., Nadeau, J.H. (eds) Comparative Genomics. Computational Biology, vol 1. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-4309-7_5

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