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Functional analysis of CASK transcript variants expressed in human brain.

Debora Tibbe¹, Yingzhou Edward Pan¹, Carsten Reißner²

¹Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

|June 16, 2021

Summary

Alternative splicing of calcium-/calmodulin dependent serine protein kinase (CASK) generates distinct variants. These CASK isoforms exhibit altered binding affinities to interaction partners, impacting cellular functions.

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Area of Science:

Neuroscience
Molecular Biology
Genetics

Background:

Calcium-/calmodulin dependent serine protein kinase (CASK) is a member of the MAGUK protein family.
CASK plays diverse roles including scaffolding, transcription control, and receptor sorting.
CASK interactions with partners like neurexin and SAP97 are crucial but poorly understood.

Purpose of the Study:

To investigate how alternative splicing regulates CASK interactions.
To identify novel CASK variants in the human fetal brain.
To determine the functional impact of alternative splicing on CASK binding affinities.

Main Methods:

Analysis of CASK variants in fetal human brain tissue.
Identification of novel splice variants using bioinformatics.
Functional assays to measure protein-protein interactions.
Molecular modeling to support binding observations.

Main Results:

Seven distinct CASK variants were identified in the fetal human brain.
Four of these variants are novel and not previously reported in GenBank.
Alternative splicing significantly altered the binding affinities of CASK variants to interaction partners.
A specific splice insert was correlated with reduced binding to SAP97.

Conclusions:

Alternative splicing is a key mechanism regulating CASK interactions.
Distinct CASK variants possess unique protein-protein interaction profiles.
These findings necessitate consideration of CASK splicing in future research.