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Related Experiment Video

Updated: Jun 26, 2026

Functional Analysis of the Larval Feeding Circuit in Drosophila

Functional Analysis of the Larval Feeding Circuit in Drosophila

Published on: November 19, 2013

Functional analysis of human EED variants using Drosophila.

Sharri S Cyrus^1,2, Sònia Medina Giró³, Tianshun Lian³

¹Department of Medical Genetics, University of British Columbia, Life Sciences Institute, The University of British Columbia, 2350 Health Sciences Mall, Vancouver, British Columbia, Canada V6T 1Z3.

|June 20, 2025

Summary

This study developed a functional assay in Drosophila to screen for variants of uncertain significance (VUS) in the EED gene. The assay effectively identified loss-of-function alleles, aiding in the interpretation of genetic variants associated with developmental disorders.

Keywords:

Drosophila melanogaster Cohen–Gibson syndrome EED Polycomb Repressive Complex 2 functional studies variants of unknown significance

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Last Updated: Jun 26, 2026

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Area of Science:

Epigenetics
Developmental Biology
Genetics

Background:

Polycomb Repressive Complex 2 (PRC2) epigenetically regulates gene expression through histone H3K27 methylation.
Germline partial loss-of-function (pLoF) variants in PRC2 core components (EZH2, EED, SUZ12) are linked to overgrowth and intellectual disability syndromes.
A significant portion of the population carries rare variants in these genes, often classified as variants of uncertain significance (VUS).

Purpose of the Study:

To develop and validate a functional assay for screening Embryonic Ectoderm Development (EED) missense variants.
To assess the pathogenicity of VUS in EED by evaluating their impact on gene function.
To establish a scalable method for assisting the clinical interpretation of human EED VUS.

Main Methods:

Utilized Drosophila melanogaster as a model organism to functionally interrogate human EED missense variants.
Mimicked human EED amino acid substitutions in the Drosophila ortholog, esc.
Performed functional assays to assess the impact of these variants on esc gene function.

Main Results:

The Drosophila assay successfully distinguished between known benign and pathogenic EED variants.
Known likely benign variants exhibited wild-type function in the assay.
Known pathogenic variants demonstrated loss-of-function (LoF) phenotypes, validating the assay's predictive capability.

Conclusions:

The developed Drosophila functional assay is a reliable and scalable tool for assessing the pathogenicity of EED variants.
This approach can aid in the clinical interpretation of VUS in EED, potentially identifying individuals with disease-contributing alleles.
The study highlights the utility of cross-species functional genomics in understanding human genetic variation and disease.