Retrotransposons in the development and progression of amyotrophic lateral sclerosis



Savage, AL ORCID: 0000-0002-2231-9800, Schumann, Gerald, Breen, Gerome, Bubb, Vivien ORCID: 0000-0003-2763-7004, Al-Chalabi, Ammar and Quinn, John ORCID: 0000-0003-3551-7803
(2019) Retrotransposons in the development and progression of amyotrophic lateral sclerosis. Journal of Neurology Neurosurgery and Psychiatry, 90 (3). pp. 284-293.

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Abstract

Endogenous retrotransposon sequences constitute approximately 42% of the human genome, and mobilisation of retrotransposons has resulted in rearrangements, duplications, deletions, novel transcripts and the introduction of new regulatory domains throughout the human genome. Both germline and somatic de novo retrotransposition events have been involved in a range of human diseases, and there is emerging evidence for the modulation of retrotransposon activity during the development of specific diseases. Particularly, there is unequivocal consensus that endogenous retrotransposition can occur in neuronal lineages. This review addresses our current knowledge of the different mechanisms through which retrotransposons might influence the development of and predisposition to amyotrophic lateral sclerosis.

Item Type: Article
Uncontrolled Keywords: Humans, Amyotrophic Lateral Sclerosis, Retroelements
Depositing User: Symplectic Admin
Date Deposited: 11 Sep 2018 10:09
Last Modified: 19 Jan 2023 01:18
DOI: 10.1136/jnnp-2018-319210
Open Access URL: http://dx.doi.org/10.1136/jnnp-2018-319210
Related URLs:
URI: https://livrepository.liverpool.ac.uk/id/eprint/3026099