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遗传负荷:非模式动物的基因组估计和应用。

Genetic load: genomic estimates and applications in non-model animals.

机构信息

Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.

Wageningen University and Research - Animal Breeding & Genomics, Wageningen, Netherlands.

出版信息

Nat Rev Genet. 2022 Aug;23(8):492-503. doi: 10.1038/s41576-022-00448-x. Epub 2022 Feb 8.

Abstract

Genetic variation, which is generated by mutation, recombination and gene flow, can reduce the mean fitness of a population, both now and in the future. This 'genetic load' has been estimated in a wide range of animal taxa using various approaches. Advances in genome sequencing and computational techniques now enable us to estimate the genetic load in populations and individuals without direct fitness estimates. Here, we review the classic and contemporary literature of genetic load. We describe approaches to quantify the genetic load in whole-genome sequence data based on evolutionary conservation and annotations. We show that splitting the load into its two components - the realized load (or expressed load) and the masked load (or inbreeding load) - can improve our understanding of the population genetics of deleterious mutations.

摘要

遗传变异是由突变、重组和基因流产生的,它会降低种群现在和未来的平均适合度。这种“遗传负荷”已经通过各种方法在广泛的动物分类群中进行了估计。基因组测序和计算技术的进步使我们能够在不进行直接适合度估计的情况下估算种群和个体的遗传负荷。在这里,我们回顾了遗传负荷的经典和当代文献。我们描述了基于进化保守性和注释的全基因组序列数据中量化遗传负荷的方法。我们表明,将负荷分为两个组成部分——实现负荷(或表达负荷)和屏蔽负荷(或近亲繁殖负荷)——可以提高我们对有害突变的种群遗传学的理解。

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