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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Published on: August 20, 2019

Stochastic phenotypes in RAS-dependent developmental diseases.

Robert A Marmion¹, Alison G Simpkins¹, Lena A Barrett²

¹Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544, USA.

Current Biology : CB

|January 27, 2023

Summary

This summary is machine-generated.

Activating RAS pathway mutations cause developmental disorders with varied symptoms. This study in Drosophila reveals that small signaling increases can lead to unpredictable defects due to stochastic variation, explaining phenotypic heterogeneity.

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Area of Science:

Developmental Biology
Genetics
Molecular Biology

Background:

Germline mutations affecting RAS signaling pathways are linked to developmental disorders.
Phenotypic variability, even in genetically identical individuals, is a hallmark of these conditions.

Purpose of the Study:

To investigate the origins of unexplained phenotypic variations in RAS-related developmental disorders.
To dissect the impact of subtle increases in RAS pathway signaling on development.

Main Methods:

Utilized gene-edited Drosophila melanogaster with activating MEK variants (a RAS pathway enzyme).
Quantified signaling output in vivo and assessed cell fate errors in larval trachea.
Employed a stochastic signaling model to interpret results.

Main Results:

Activating MEK variants caused a small but consistent increase in RAS signaling output.
A reduced fraction of mutation carriers reached adulthood, but most survivors displayed normal RAS-dependent structures.
Cell fate errors were observed in a subset of animals, consistent with stochastic variation.

Conclusions:

Subtle increases in RAS signaling can shift phenotypic distributions, leading to variable outcomes due to stochastic effects.
This provides a framework for understanding phenotypic heterogeneity in RAS-related developmental disorders.
The findings offer insights into the impact of other pathogenic alleles and mild mutations.