Microcephaly-associated genes asp and Sas4 influence chromatin organization and nuclear lamina structure in Drosophila melanogaster

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Authors: Degisew Yinur Mengistu, Marta Marzullo, Claudia Pellacani, Marcella Marchetti, Marta Terribili, Emma Montivero Morales, Maria Patrizia Somma, Laura Ciapponi
Cited by: 1
References: 95

Abstract

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by reduced brain size and intellectual disability. Mutations in over 30 genes, nearly half linked to centrosome biogenesis or microtubule (MT) dynamics, highlight spindle defects in disease aetiology, yet these alone do not fully explain MCPH. Here, we show that the Drosophila orthologs of ASPM/MCPH5 (asp) and CENPJ/MCPH6 (Sas4) contribute to safeguard nuclear architecture and chromatin organization during brain development. Loss of either gene perturbs MT organization and centromere clustering, leading to reduced Lamin and HP1α levels, and to deformed nuclear lamina. Mutants also display a global reduction in heterochromatin-associated histone marks, H3K9me2/3 and H3K27me3, along with an increase in the euchromatin-associated mark H3K4me3 and elevated DNA damage with delayed repair. Notably, inhibiting demethylases with methylstat restores H3K9me3 and nuclear morphology. These findings suggest a previously unreported role for centrosome proteins in regulating chromatin organization, providing new insights into the mechanisms underlying MCPH pathogenesis.

Fields of Study & Subjects

Microtubule and mitosis dynamics Nuclear Structure and Function Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Development
Publisher
The Company of Biologists
Volume
153
Issue
10
Publication date
1 May 2026
Language
EN