Characterisation of Cdkl5 transcript isoforms in rat

Hector, R. D. , Dando, O., Ritakari, T. E., Kind, P. C., Bailey, M. E.S. and Cobb, S. R. (2017) Characterisation of Cdkl5 transcript isoforms in rat. Gene, 603, pp. 21-26. (doi:10.1016/j.gene.2016.12.001) (PMID:27940108)

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CDKL5 deficiency is a severe neurological disorder caused by mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5). The predominant human CDKL5 brain isoform is a 9.7 kb transcript comprised of 18 exons with a large 6.6 kb 3′-untranslated region (UTR). Mammalian models of CDKL5 disorder are currently limited to mouse, and little is known about Cdkl5 in other organisms used to model neurodevelopmental disorders, such as rat. In this study we characterise, both bioinformatically and experimentally, the rat Cdkl5 gene structure and its associated transcript isoforms. New exonic regions, splice sites and UTRs are described, confirming the presence of four distinct transcript isoforms. The predominant isoform in the brain, which we name rCdkl5_1, is orthologous to the human hCDKL5_1 and mouse mCdkl5_1 isoforms and is the most highly expressed isoform across all brain regions tested. This updated gene model of Cdkl5 in rat provides a framework for studies into its protein products and provides a reference for the development of molecular therapies for testing in rat models of CDKL5 disorder.

Item Type:Articles
Glasgow Author(s) Enlighten ID:Cobb, Dr Stuart and Hector, Dr Ralph and Bailey, Dr Mark
Authors: Hector, R. D., Dando, O., Ritakari, T. E., Kind, P. C., Bailey, M. E.S., and Cobb, S. R.
College/School:College of Medical Veterinary and Life Sciences > Institute of Neuroscience and Psychology
College of Medical Veterinary and Life Sciences > School of Life Sciences
Journal Name:Gene
ISSN (Online):1879-0038
Published Online:07 December 2016
Copyright Holders:Copyright © 2016 Elsevier B.V.
First Published:First published in Gene 603:21-26
Publisher Policy:Reproduced in accordance with the copyright policy of the publisher

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Project CodeAward NoProject NamePrincipal InvestigatorFunder's NameFunder RefLead Dept
644651Developing and evaluating novel gene therapy approaches in Rett syndromeStuart CobbScottish Executive Health Department (SEHHD-CSO)ETM/334INP - CENTRE FOR NEUROSCIENCE