Origins and Impacts of Primate Segmental Duplications
نویسندگان
چکیده
Duplicated sequences are substrates for the emergence of new genes and are an important source of genetic instability associated with rare and common disease. Analyses of primate genomes have shown an increase in the proportion of interspersed segmental duplications within the genomes of humans and great apes. This is in contrast to other mammalian genomes that appear to have their recently duplicated sequences organized in a tandem configuration. We discuss the mechanistic origin and the impact of this difference with respect to the evolution, genetic diversity and primate phenotype. While many genomes will be sequenced in the future, resolution of this aspect of genomic architecture still requires high quality sequence and detailed analyses.
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