Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA.
School of Computer Science and Engineering, Faculty of Engineering, University of New South Wales Sydney, Sydney, NSW, Australia.
Nat Commun. 2023 Nov 9;14(1):7226. doi: 10.1038/s41467-023-43024-5.
Genetic and environmental variation are key contributors during organism development, but the influence of minor perturbations or noise is difficult to assess. This study focuses on the stochastic variation in allele-specific expression that persists through cell divisions in the nine-banded armadillo (Dasypus novemcinctus). We investigated the blood transcriptome of five wild monozygotic quadruplets over time to explore the influence of developmental stochasticity on gene expression. We identify an enduring signal of autosomal allelic variability that distinguishes individuals within a quadruplet despite their genetic similarity. This stochastic allelic variation, akin to X-inactivation but broader, provides insight into non-genetic influences on phenotype. The presence of stochastically canalized allelic signatures represents a novel axis for characterizing organismal variability, complementing traditional approaches based on genetic and environmental factors. We also developed a model to explain the inconsistent penetrance associated with these stochastically canalized allelic expressions. By elucidating mechanisms underlying the persistence of allele-specific expression, we enhance understanding of development's role in shaping organismal diversity.
遗传和环境变异是生物发育过程中的关键因素，但对于微小干扰或噪声的影响，评估起来颇具难度。本研究聚焦于九带犰狳（Dasypus novemcinctus）细胞分裂过程中持续存在的等位基因特异性表达的随机变异。我们通过对五只野生同卵四胞胎的血液转录组进行随时间的分析，旨在探索发育随机性对基因表达的影响。我们鉴定出一种持久的常染色体等位基因变异性信号，尽管四胞胎在遗传上相似，但这种信号可以区分个体。这种类似于 X 染色体失活但更广泛的随机等位基因变异为表型的非遗传影响提供了新的见解。随机 canalized 等位基因特征的存在代表了一种用于描述生物体变异性的新方法，补充了基于遗传和环境因素的传统方法。我们还开发了一个模型来解释这些随机 canalized 等位基因表达的不一致外显率。通过阐明维持等位基因特异性表达的机制，我们增进了对发育在塑造生物体多样性中的作用的理解。
