Role of CHAMP1, a neurodevelopmental disorder high risk gene, in human brain development and function

NIH RePORTER · NIH · R01 · $556,895 · view on reporter.nih.gov ↗

Abstract

PROJECT SUMMARY Nonsense or missense mutations of the CHAMP1 gene, which encodes for a zinc-finger protein involved in the maintenance of kinetochore-microtubule attachment during mitosis and regulation of chromosomal segregation, causes a neurodevelopmental syndrome characterized by intellectual disability (ID), ASD-like behaviors, microcephaly, hypotonia, and dysmorphic features. CHAMP1 interacts with POGZ, which encodes for a gene that causes the White-Sutton syndrome, and it is known that the interaction of these two proteins is lost in the presence of mutations. To date, 36 disease rare variants in CHAMP1 have been reported across studies comprising nonsense, missense, and frameshift mutations. Recently, a Champ1+/- mouse model showed relatively mild learning and memory impairment and depression-like behaviors and delayed neuronal differentiation. Despite the mouse data, there is yet no study that focused on the human brain leaving the role of CHAMP1 in human brain development totally unexplored. As such, our central hypothesis is that CHAMP1 loss of function alter neurogenesis and neuronal migration in human brain resulting in dysfunction of cortical local circuits. We propose a series of complementary approaches, including high-resolution imaging, single-cell multiomics, and electrophysiology tools to explore CHAMP1 loss of function in the following specific aims: Specific Aim 1. Determine the influence of CHAMP1 loss of function in the development of forebrain cortical organoids. Specific Aim 2. Profile single cell level transcriptomic and epigenomic landscapes of CHAMP1 loss of function organoids at different developmental stages. Specific Aim 3. Determine the effect of CHAMP1 loss of function in neuronal activity and local network.

Key facts

NIH application ID
10936363
Project number
1R01HD113594-01A1
Recipient
MEDICAL UNIVERSITY OF SOUTH CAROLINA
Principal Investigator
Stefano Berto
Activity code
R01
Funding institute
NIH
Fiscal year
2024
Award amount
$556,895
Award type
1
Project period
2024-09-19 → 2029-06-30