The transcriptional legacy of developmental stochasticity

Sara Ballouz, Risa Karakida Kawaguchi, Maria T. Pena, Stephan Fischer, Megan Crow, Leon French, Frank M. Knight, Linda B. Adams and Jesse Gillis ()
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Sara Ballouz: Cold Spring Harbor Laboratory
Risa Karakida Kawaguchi: Cold Spring Harbor Laboratory
Maria T. Pena: National Hansen’s Disease Program
Stephan Fischer: Cold Spring Harbor Laboratory
Megan Crow: Cold Spring Harbor Laboratory
Leon French: University of Toronto
Frank M. Knight: University of the Ozarks
Linda B. Adams: National Hansen’s Disease Program
Jesse Gillis: Cold Spring Harbor Laboratory

Nature Communications, 2023, vol. 14, issue 1, 1-12

Abstract: Abstract 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.

Date: 2023
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DOI: 10.1038/s41467-023-43024-5

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