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CNVs and Microsatellite DNA Polymorphism

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Evolution of the Human Genome I

Part of the book series: Evolutionary Studies ((EVOLUS))

Abstract

Microsatellite DNAs are short tandem repeats (often abbreviated as STR) of nucleotides (1–6 bp) and abundant in eukaryotic genomes. Microsatellites are used as genetic markers for population studies and forensics because of the high mutation rate. Recently, copy number variations (CNVs) of DNA segments of a kilobase to a few megabases are found to be prevalent and cover about 10% of the human genome. This chapter describes (1) the mutational pattern of microsatellites and the application for evolutionary studies of populations, (2) the distribution of CNVs in human genome and its relationship with multigene families of chemosensory receptor genes, and (3) the evolutionary pattern of microsatellites and CNVs and their effects on genome size variation in human populations by taking microsatellites as a neutral model of CNV evolution.

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Authors and Affiliations

  1. Life Science Research Center, Kagawa University, Takamatsu, Japan

    Naoko Takezaki

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  1. Naoko Takezaki
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Correspondence to Naoko Takezaki .

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Editors and Affiliations

  1. Division of Population Genetics, National Institute of Genetics, Mishima, Japan

    Naruya Saitou

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Takezaki, N. (2017). CNVs and Microsatellite DNA Polymorphism. In: Saitou, N. (eds) Evolution of the Human Genome I. Evolutionary Studies. Springer, Tokyo. https://doi.org/10.1007/978-4-431-56603-8_7

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