Stochastic gene expression and environmental stressors trigger variable somite segmentation phenotypes.
Stochastic gene expression and environmental stressors trigger variable somite segmentation phenotypes.
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DOI：
10.1038/s41467-023-42220-7
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发表时间：
2023-10-14
影响因子：
16.6
通讯作者：
Ozbudak, Ertugrul M.
中科院分区：
文献类型：
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作者：
Keseroglu, Kemal;Zinani, Oriana Q. H.;Keskin, Sevdenur;Seawall, Hannah;Alpay, Eslim E.;Ozbudak, Ertugrul M.
多个基因的突变导致表型的不完全表达和可变表达，这通常归因于修饰基因或基因-环境相互作用。在这里，我们发现随机基因表达的基础上的体节分割缺陷的胚胎突变体的分割时钟基因her 1或her 7的变异。低温和缺氧进一步增强了表型强度。通过对分段时钟报告者进行实时成像，我们进一步表明，具有较高振荡幅度的细胞组成功地形成体节，而具有较低幅度的细胞组则未能形成体节。在不利的环境中，具有高振幅振荡的周期数和成功分割的数量成比例地减少。这些结果表明，个别振荡周期随机未能通过阈值振幅，导致突变体的分割缺陷。我们的定量方法适用于研究不同组织中突变基因的可变表型。几个基因的突变导致可变的表型。在这里，作者表明随机her 1和her 7基因表达，这是受环境条件的影响，体节分割缺陷的变异性的基础。
Mutations of several genes cause incomplete penetrance and variable expressivity of phenotypes, which are usually attributed to modifier genes or gene-environment interactions. Here, we show stochastic gene expression underlies the variability of somite segmentation defects in embryos mutant for segmentation clock genes her1 or her7. Phenotypic strength is further augmented by low temperature and hypoxia. By performing live imaging of the segmentation clock reporters, we further show that groups of cells with higher oscillation amplitudes successfully form somites while those with lower amplitudes fail to do so. In unfavorable environments, the number of cycles with high amplitude oscillations and the number of successful segmentations proportionally decrease. These results suggest that individual oscillation cycles stochastically fail to pass a threshold amplitude, resulting in segmentation defects in mutants. Our quantitative methodology is adaptable to investigate variable phenotypes of mutant genes in different tissues. Mutations of several genes cause variable phenotypes. Here, the authors show stochastic her1 and her7 gene expression, which is affected by environmental conditions, underlies variability of somite segmentation defects.
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影响因子：
4.6
作者：
Ay, Ahmet;Knierer, Stephan;Oezbudak, Ertugrul M.
通讯作者：
Oezbudak, Ertugrul M.
影响因子：
5.3
作者：
Kajimura, S;Aida, K;Duan, CM
通讯作者：
Duan, CM
影响因子：
56.9
作者：
Riedel-Kruse, Ingmar H.;Mueller, Claudia;Oates, Andrew C.
通讯作者：
Oates, Andrew C.
影响因子：
9.8
作者：
Schröter C;Ares S;Morelli LG;Isakova A;Hens K;Soroldoni D;Gajewski M;Jülicher F;Maerkl SJ;Deplancke B;Oates AC
通讯作者：
Oates AC
影响因子：
64.8
作者：
通讯作者：
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