Sjödin Per, Jakobsson Mattias
Department of Evolutionary Biology, EBC, Uppsala University, Uppsala, Sweden.
Methods Mol Biol. 2012;838:209-23. doi: 10.1007/978-1-61779-507-7_10.
Copy number variation has recently received considerable attention, and copy number variants (CNVs) have been shown to be both common in mammalian genomes and important for understanding genetic and phenotypic variation. As empirical knowledge and detection methods are quickly advancing, evolutionary theories about CNVs are rapidly updated and often revised. Here, we review recent progress on understanding CNVs, and we discuss some key issues for future research. In essence, we discuss four major forces in population genetics, recombination, mutation, selection, and demography, in relation to CNVs.
拷贝数变异最近受到了广泛关注，并且已表明拷贝数变异（CNV）在哺乳动物基因组中普遍存在，对于理解遗传和表型变异很重要。随着经验知识和检测方法的迅速发展，关于CNV的进化理论也在迅速更新且经常被修订。在这里，我们回顾了在理解CNV方面的最新进展，并讨论了未来研究的一些关键问题。实质上，我们讨论了群体遗传学中的四种主要力量，即重组、突变、选择和种群统计学，与CNV的关系。
