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二次范式描述了表型严重程度与变异之间的关系。

A quadratic paradigm describes the relationship between phenotype severity and variation.

作者信息

Mumme-Monheit Abigail, Gustafson Grace E, Hopkins Colette A, Bailon-Zambrano Raisa, Sucharov Juliana, Lippincott Michael J, Way Gregory P, Colborn Kathryn L, Nichols James T

机构信息

Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

出版信息

Nat Commun. 2025 Sep 1;16(1):8154. doi: 10.1038/s41467-025-63316-2.

Abstract

In 1942 Waddington observed that phenotype variation among mutant animals is greater than in wild types. Here we update this observation to depict unexpected relationships between phenotype severity and variation. Using a zebrafish mef2ca allelic series representing a range in craniofacial phenotype severity, we tested the straightforward hypothesis that as phenotype severity increases, variation increases. We found that severity and variation were positively correlated, but only to a point. Variation collapsed in the most severe conditions. Mathematically, we found that the best fit for the relationship between severity and variation is a quadratic function. Across both zebrafish craniofacial phenotypes and human genetic disease, wild-type conditions produced low variation, moderate severity was associated with high variation, and conditions of extreme severity resulted in low variation. We propose that the quadratic relationship between severity and variation is a universal principle of biology that until now has not been formally tested.

摘要

1942年,沃丁顿观察到突变动物之间的表型变异大于野生型动物。在此,我们更新这一观察结果,以描述表型严重程度与变异之间出人意料的关系。利用代表颅面表型严重程度范围的斑马鱼mef2ca等位基因系列,我们检验了一个简单的假设,即随着表型严重程度的增加,变异也会增加。我们发现严重程度和变异呈正相关,但仅在一定程度上如此。在最严重的情况下,变异消失了。从数学角度来看,我们发现严重程度与变异之间的最佳拟合关系是一个二次函数。在斑马鱼颅面表型和人类遗传疾病中,野生型情况产生的变异较低,中等严重程度与高变异相关,而极端严重程度的情况则导致变异较低。我们提出,严重程度与变异之间的二次关系是生物学的一个普遍原则,迄今为止尚未得到正式验证。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa1/12402270/e48d62ffbd55/41467_2025_63316_Fig1_HTML.jpg

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