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Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.

Fang Liu^1,2, Chen Liang^1,2, Zhengchang Li¹

¹Department of Medical Genetics, Capital Institute of Pediatrics, Beijing 100020, China.

Brain : a Journal of Neurology

|March 4, 2023

Summary

This summary is machine-generated.

The 16p11.2 deletion impacts neurodevelopment, with MAPK3 gene expression influenced by specific genetic variations. This finding helps explain variable neurodevelopmental disorder risks in affected individuals.

Keywords:

16p11.2 deletion (16p11.2del)haplotype-specific expression of MAPK3 human iPSC neuronal cells

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Published on: November 3, 2010

Area of Science:

Genetics
Neuroscience
Developmental Biology

Background:

Recurrent proximal 16p11.2 deletion (16p11.2del) is linked to neurodevelopmental disorders but shows incomplete penetrance and variable expressivity.
Previous studies using human induced pluripotent stem cells confirmed neuronal development disruption in 16p11.2del cells, yet responsible genes and penetrance determinants remained unknown.

Purpose of the Study:

To identify genes contributing to abnormal cellular phenotypes in 16p11.2del and understand factors influencing neurodevelopmental disorder penetrance.
To investigate the role of residual haplotypes in MAPK3 expression and its association with neurodevelopmental phenotypes.

Main Methods:

Haplotype phasing of the 16p11.2 region in a neurodevelopmental disorders cohort.
Generation of human induced pluripotent stem cells from 16p11.2del families with distinct residual haplotypes.
Transcriptomic profiling and cellular phenotyping of differentiated neuronal cells, including luciferase assays for SNP validation.

Main Results:

MAPK3 was identified as a contributor to neuronal development dysfunction, affecting soma and electrophysiological properties.
MAPK3 expression varied based on a 132 kb 58 single nucleotide polymorphism (SNP) residual haplotype, with a minor allele haplotype linked to reduced expression.
Ten SNPs on the residual haplotype were mapped to MAPK3 enhancers, with six validated to influence MAPK3 expression via cis-regulation.

Conclusions:

MAPK3 dysfunction, modulated by specific residual haplotypes, contributes to neurodevelopmental abnormalities in 16p11.2del carriers.
The identified minor residual haplotype is associated with increased risk and severity of neurodevelopmental disorder phenotypes in 16p11.2del subjects.