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玉米转座子诱导的体细胞突变的定量和灵敏测序

Quantitative and sensitive sequencing of somatic mutations induced by a maize transposon.

作者信息

Scherer Justin, Hinczewski Michael, Nelms Brad

机构信息

Department of Genetics, University of Georgia, Athens, GA 30602.

The Plant Center, Office of Research, University of Georgia, Athens, GA 30602.

出版信息

Proc Natl Acad Sci U S A. 2025 Aug 12;122(32):e2426650122. doi: 10.1073/pnas.2426650122. Epub 2025 Aug 6.

Abstract

Cells accumulate mutations throughout development, contributing to cancer, aging, and evolution. Quantitative data on the abundance of de novo mutations within plants or animals are limited, as new mutations are often rare within a tissue and fall below the limits of current sequencing depths and error rates. Here, we show that mutations induced by the maize Mutator (Mu) transposon can be reliably quantified down to a detection limit of 1 part in 16,000. We measured the abundance of millions of de novo Mu insertions across four tissue types. Within a tissue, the distribution of de novo Mu allele frequencies was highly reproducible between plants, showing that, despite the stochastic nature of mutation, repeated statistical patterns of mutation abundance emerge. In contrast, there were significant differences in the allele frequency distribution between tissues. At the extremes, root was dominated by a small number of highly abundant de novo insertions, while endosperm was characterized by thousands of insertions at low allele frequencies. Finally, we used the measured pollen allele frequencies to reinterpret a classic genetic experiment, showing that evidence for late Mu activity in pollen is better explained by cell division statistics. These results provide insight into the complexity of mutation accumulation in multicellular organisms and a system to interrogate the factors that shape mutation abundance.

摘要

细胞在整个发育过程中积累突变,这导致了癌症、衰老和进化。关于植物或动物中新发突变丰度的定量数据有限,因为新突变在组织中往往很少见,低于当前测序深度和错误率的检测极限。在这里,我们表明,由玉米Mutator(Mu)转座子诱导的突变可以可靠地定量到1/16000的检测极限。我们测量了四种组织类型中数百万个新发Mu插入的丰度。在一个组织内,植物之间新发Mu等位基因频率的分布具有高度可重复性,这表明,尽管突变具有随机性,但仍会出现重复的突变丰度统计模式。相比之下,不同组织之间的等位基因频率分布存在显著差异。在极端情况下,根中主要是少量高度丰富的新发插入,而胚乳的特征是数千个低等位基因频率的插入。最后,我们使用测量到的花粉等位基因频率重新解释了一个经典的遗传实验,结果表明,花粉中Mu晚期活性的证据可以用细胞分裂统计更好地解释。这些结果为多细胞生物中突变积累的复杂性提供了见解,并提供了一个系统来探究影响突变丰度的因素。

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