Universität zu Köln

Unni, Prasida, Friend, Jack ORCID: 0000-0001-9480-9334, Weinberg, Janice, Okur, Volkan ORCID: 0000-0001-6461-0957, Hochscherf, Jennifer ORCID: 0000-0002-4412-7391 and Dominguez, Isabel (2022). Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases. Front. Mol. Biosci., 9. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-889X

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Abstract

Okur-Chung Neurodevelopmental Syndrome (OCNDS) and Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) were recently identified as rare neurodevelopmental disorders. OCNDS and POBINDS are associated with heterozygous mutations in the CSNK2A1 and CSNK2B genes which encode CK2 alpha, a serine/threonine protein kinase, and CK2 beta, a regulatory protein, respectively, which together can form a tetrameric enzyme called protein kinase CK2. A challenge in OCNDS and POBINDS is to understand the genetic basis of these diseases and the effect of the various CK2? and CK2 beta mutations. In this study we have collected all variants available to date in CSNK2A1 and CSNK2B, and identified hotspots. We have investigated CK2? and CK2 beta missense mutations through prediction programs which consider the evolutionary conservation, functionality and structure or these two proteins, compared these results with published experimental data on CK2 alpha and CK2 beta mutants, and suggested prediction programs that could help predict changes in functionality of CK2 alpha mutants. We also investigated the potential effect of CK2 alpha and CK2 beta mutations on the 3D structure of the proteins and in their binding to each other. These results indicate that there are functional and structural consequences of mutation of CK2 alpha and CK2 beta, and provide a rationale for further study of OCNDS and POBINDS-associated mutations. These data contribute to understanding the genetic and functional basis of these diseases, which is needed to identify their underlying mechanisms.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Unni, Prasida UNSPECIFIED UNSPECIFIED UNSPECIFIED Friend, Jack UNSPECIFIED orcid.org/0000-0001-9480-9334 UNSPECIFIED Weinberg, Janice UNSPECIFIED UNSPECIFIED UNSPECIFIED Okur, Volkan UNSPECIFIED orcid.org/0000-0001-6461-0957 UNSPECIFIED Hochscherf, Jennifer UNSPECIFIED orcid.org/0000-0002-4412-7391 UNSPECIFIED Dominguez, Isabel UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-671840
DOI:	10.3389/fmolb.2022.851547
Journal or Publication Title:	Front. Mol. Biosci.
Volume:	9
Date:	2022
Publisher:	FRONTIERS MEDIA SA
Place of Publication:	LAUSANNE
ISSN:	2296-889X
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PROTEIN-KINASE CK2; MULTIPLE SEQUENCE ALIGNMENT; CATALYTIC-SUBUNIT; CASEIN KINASE-2; CRYSTAL-STRUCTURE; EVOLUTIONARY CONSERVATION; SUBSTRATE RECOGNITION; BETA-SUBUNIT; CONFORMATIONAL PLASTICITY; MUTATIONS Multiple languages Biochemistry & Molecular Biology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/67184