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有害基因组突变的速率和每代效应的上限。

Upper limit of the rate and per generation effects of deleterious genomic mutations.

作者信息

Deng Hong-Wen, Li Jian, Pfrender Michael E, Li Jin-Long, Deng Hongyi

机构信息

Departments of Orthopedic Surgery and Basic Medical Sciences, University of Missouri - Kansas City, Kansas City, MO 64108-2792, USA.

出版信息

Genet Res. 2006 Aug;88(1):57-65. doi: 10.1017/S0016672306008329.

Abstract

Unbiased or upper limit estimates of the rate (U) of genomic mutations to mildly deleterious alleles are crucial in genetic and conservation studies and in human health care. However, only a few estimates of the lower bounds of U are available. We present a fairly robust estimation that yields an upper limit of U and a nearly unbiased estimate of the per generation fitness decline due to new deleterious mutations. We applied the approach to three species of the freshwater microcrustacean Daphnia and revealed that the upper limit of U for egg survivorship is 0.73 (SD = 0.30) in 14 D. pulicaria populations. For the first four clutches, per generation decline in fecundity due to deleterious mutations ranged from 2.2% to 7.8% in 20 D. pulex populations and from 1.1% to 5.1% in 8 D. obtusa populations. These results indicate the mutation pressure is high in natural Daphnia populations. The approach investigated here provides a potential way to quickly and conveniently characterize U and per generation effects of deleterious genomic mutations on fitness or its important components such as fecundity.

摘要

对基因组突变产生轻度有害等位基因的速率(U)进行无偏估计或上限估计,在遗传学和保护研究以及人类医疗保健中至关重要。然而,目前仅有少数关于U下限的估计值。我们提出了一种相当稳健的估计方法,该方法得出了U的上限以及由于新的有害突变导致的每代适合度下降的近乎无偏估计。我们将该方法应用于淡水微型甲壳动物水蚤的三个物种,结果表明,在14个蚤状溞种群中,卵存活率的U上限为0.73(标准差=0.30)。在前四个卵块中,在20个蚤状溞种群中,由于有害突变导致的每代繁殖力下降范围为2.2%至7.8%,在8个钝额溞种群中为1.1%至5.1%。这些结果表明,在自然水蚤种群中突变压力很高。这里研究的方法提供了一种潜在途径,可快速方便地描述U以及有害基因组突变对适合度或其重要组成部分(如繁殖力)的每代影响。

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