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

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Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.

Yukiko Kuroda¹, Aiko Iwata-Otsubo¹, Kerith-Rae Dias²

¹Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics

|April 23, 2023

Summary

Genetic variants in CBX1, encoding heterochromatin protein 1β (HP1β), cause a new neurodevelopmental disorder. Mutations disrupt HP1β chromatin binding, impacting neurocognitive development and potentially leading to dominant-negative effects.

Keywords:

Chromatin Developmental disabilities Heterochromatin Histone

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Area of Science:

Genetics
Neuroscience
Molecular Biology

Background:

Heterochromatin protein 1β (HP1β), encoded by CBX1, plays a crucial role in chromatin regulation.
Disruptions in neurodevelopmental pathways can lead to complex syndromic disorders.

Purpose of the Study:

To identify genetic variants in CBX1 associated with a novel syndromic neurodevelopmental disorder.
To investigate the functional impact of these variants on HP1β function and neurodevelopment.

Main Methods:

Patient identification through GeneMatcher and physician referrals.
In vitro cellular assays and neurobehavioral/cytological analyses in Cbx1 mutant mouse models.
Chromatin immunoprecipitation and interactome analysis to assess HP1β binding and interactions.

Main Results:

Heterozygous de novo variants in the CBX1 chromodomain were identified in three unrelated individuals with developmental delay, hypotonia, and autistic features.
Cbx1 mutant mice exhibited synaptic delay or myelination deficits, indicated by increased latency-to-peak response.
Mutant HP1β showed reduced binding to heterochromatin, though most interacting proteins remained unchanged.

Conclusions:

CBX1 variants disrupt HP1β chromatin binding, contributing to developmental disabilities.
Mutant HP1β likely exerts dominant-negative effects by sequestering wild-type HP1β and other HP1 proteins.
This study establishes CBX1 as a significant gene in neurocognitive development.