Diseases of the nERVous system: retrotransposon activity in neurodegenerative disease

Tam, O. H., Ostrow, L. W., Hammell, M. G. (July 2019) Diseases of the nERVous system: retrotransposon activity in neurodegenerative disease. Mob DNA, 10. p. 32. ISSN 1759-8753 (Print)

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URL: https://www.ncbi.nlm.nih.gov/pubmed/31372185
DOI: 10.1186/s13100-019-0176-1


Transposable Elements (TEs) are mobile genetic elements whose sequences constitute nearly half of the human genome. Each TE copy can be present in hundreds to thousands of locations within the genome, complicating the genetic and genomic studies of these highly repetitive sequences. The recent development of better tools for evaluating TE derived sequences in genomic studies has enabled an increasing appreciation for the contribution of TEs to human development and disease. While some TEs have contributed novel and beneficial host functions, this review will summarize the evidence for detrimental TE activity in neurodegenerative disorders. Much of the evidence for pathogenicity implicates endogenous retroviruses (ERVs), a subset of TEs that entered the genome by retroviral infections of germline cells in our evolutionary ancestors and have since been passed down as a substantial fraction of the human genome. Human specific ERVs (HERVs) represent some of the youngest ERVs in the genome, and thus are presumed to retain greater function and resultant pathogenic potential.

Item Type: Paper
Subjects: diseases & disorders > mental disorders > delirium dementia cognitive disorders > Alzheimer's disease
organism description > virus > retrovirus
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > DNA expression > transposable elements
CSHL Authors:
Communities: CSHL labs > Hammell M. lab
Depositing User: Matthew Dunn
Date: 26 July 2019
Date Deposited: 12 Aug 2019 16:57
Last Modified: 12 Aug 2019 16:57
PMCID: PMC6659213
Related URLs:
URI: https://repository.cshl.edu/id/eprint/38197

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